Myelodysplastic syndrome: An inability to appropriately respond to damaged DNA?
Open accessAbstract
Myelodysplastic syndrome (MDS) is considered a hematopoietic stem cell disease that is characterized by abnormal hematopoietic differentiation and a high propensity to develop acute myeloid leukemia. It is mostly associated with advanced age, but also with prior cancer therapy and inherited syndromes related to abnormalities in DNA repair. Recent technologic advances have led to the identification of a myriad of frequently occurring genomic perturbations associated with MDS. These observations suggest that MDS and its progression to acute myeloid leukemia is a genomic instability disorder, resulting from a stepwise accumulation of genetic abnormalities. The notion is now emerging that the underlying mechanism of this disease could be a defect in one or more pathways that are involved in responding to or repairing damaged DNA. In this review, we discuss these pathways in relationship to a large number of studies performed with MDS patient samples and MDS mouse models. Moreover, in view of our current understanding of how DNA damage response and repair pathways are affected by age in hematopoietic stem cells, we also explore how this might relate to MDS development.
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MDS is a heterogeneous group of clonal haematopoietic disorders characterized by ineffective haematopoiesis and DNA damage accumulation in haematopoietic stem and progenitor cells.
“MDS is a heterogeneous group of clonal haematopoietic disorders characterized by ineffective haematopoiesis and DNA damage accumulation in haematopoietic stem and progenitor cells87.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [87]
The Introduction describes MDS as a group of HSC-based disorders characterized by ineffective differentiation, and the genomic-instability section discusses accumulating genetic alterations. But the paper does not establish DNA damage accumulation in MDS haematopoietic stem and progenitor cells as a defining characteristic; its direct evidence of increased DNA damage concerns bone marrow cells in MDS mouse models (DNA repair > Double strand break repair; page unavailable). (LLM, conf=0.84)
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Vardiman, J., Thiele, J., Arber, D., Brunning, R., Borowitz, M., Porwit, A., Harris, N., Beau, M. L. L., Hellström-Lindberg, E., Tefferi, A., et al. (2009) · Blood · doi:10.1182/blood-2009-03-209262 · Cited by 4,837 · cited 1× · see citing works
“Depending on the particular subtype [4], the median survival of MDS patients ranges from ~0.”
BackgroundFoxOs Are Critical Mediators of Hematopoietic Stem Cell Resistance to Physiologic Oxidative Stress
Tothova, Z., Kollipara, R., Huntly, B. J., Lee, B. H., Castrillon, D. H., Cullen, D. E., McDowell, E. P., Lazo-Kallanian, S., Williams, I. R., Sears, C., et al. (2007) · Cell · doi:10.1016/j.cell.2007.01.003 · Cited by 1,562 · cited 1× · see citing works
“It is hard to imagine, however, that BER, which is essential to repair ROS-induced single nucleotide aberrations and thought to repair 104 to 106 nucleotides per cell per day [93], does not play an important role in maintaining the HSC pool, especially since the connection between increased ROS and abnormal HSC functi…”
BackgroundReactive oxygen species act through p38 MAPK to limit the lifespan of hematopoietic stem cells
Ito, K., Hirao, A., Arai, F., Takubo, K., Matsuoka, S., Miyamoto, K., Ohmura, M., Naka, K., Hosokawa, K., Ikeda, Y., et al. (2006) · Nature Medicine · doi:10.1038/nm1388 · Cited by 1,362 · cited 1× · see citing works
“It is hard to imagine, however, that BER, which is essential to repair ROS-induced single nucleotide aberrations and thought to repair 104 to 106 nucleotides per cell per day [93], does not play an important role in maintaining the HSC pool, especially since the connection between increased ROS and abnormal HSC functi…”
BackgroundRegulation of oxidative stress by ATM is required for self-renewal of haematopoietic stem cells
Ito, K., Hirao, A., Arai, F., Matsuoka, S., Takubo, K., Hamaguchi, I., Nomiyama, K., Hosokawa, K., Sakurada, K., Nakagata, N., et al. (2004) · Nature · doi:10.1038/nature02989 · Cited by 1,175 · cited 2× · see citing works
“ATM is especially important for controlling ROS-related DNA damage in HSCs [78], an activity mediated through phosphorylation of the pro-apoptotic protein BID [81].”
BackgroundCell intrinsic alterations underlie hematopoietic stem cell aging
Rossi, D. J., Bryder, D., Zahn, J. M., Ahlenius, H., Sonu, R., Wagers, A. J., & Weissman, I. L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503280102 · Cited by 1,152 · see citing works
Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age
Rossi, D. J., Bryder, D., Seita, J., Nussenzweig, A., Hoeijmakers, J., & Weissman, I. L. (2007) · Nature · doi:10.1038/nature05862 · Cited by 1,115 · cited 1× · see citing works
“Compared to the young, both mouse [90] and human blood cells [106] of aged individuals show significantly increased numbers of γH2AX foci, which are a (indirect) measure of DNA damage (Figure 2).”
BackgroundMMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings
McVey, M., & Lee, S. E. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.08.007 · Cited by 974 · cited 1× · see citing works
“Depending on whether the single-strand overhangs on the DSB ends are compatible, minimal to extensive processing of the damaged ends is performed prior to ligation, determining the accuracy of the repair [48, 49].”
BackgroundCyclin‐dependent protein kinases: Key regulators of the eukaryotic cell cycle
Nigg, E. A. (1995) · BioEssays · doi:10.1002/bies.950170603 · Cited by 934 · cited 1× · see citing works
“Under normal conditions, the transition between stages of the cell cycle is controlled by periodic activation and deactivation of complexes consisting of cyclins and cyclindependent kinases (CDKs) [35].”
BackgroundThe aging of hematopoietic stem cells
Morrison, S. J., Wandycz, A. M., Akashi, K., Globerson, A., & Weissman, I. L. (1996) · Nature Medicine · doi:10.1038/nm0996-1011 · Cited by 853 · see citing works
Haase, D. T., Germing, U., Schanz, J., Pfeilstöcker, M., Nösslinger, T., Hildebrandt, B., Kündgen, A., Lübbert, M., Kunzmann, R., Giagounidis, A. A. N., et al. (2007) · Blood · doi:10.1182/blood-2007-03-082404 · Cited by 792 · cited 2× · see citing works
“Although this model has not been demonstrated in humans, it fits with the fact that MDS is an age-related disease and the observation that within the same patient, the number of abnormalities often increases as the disease progresses [20].”
BackgroundResultAge-Associated Characteristics of Murine Hematopoietic Stem Cells
Sudo, K., Ema, H., Morita, Y., & Nakauchi, H. (2000) · The Journal of Experimental Medicine · doi:10.1084/jem.192.9.1273 · Cited by 722 · see citing works
The effects of deregulated DNA damage signalling on cancer chemotherapy response and resistance
Bouwman, P., & Jonkers, J. (2012) · Nature Reviews Cancer · doi:10.1038/nrc3342 · Cited by 615 · see citing works
Hematopoietic Stem Cell Quiescence Promotes Error-Prone DNA Repair and Mutagenesis
Mohrin, M., Bourke, E., Alexander, D., Warr, M. R., Barry-Holson, K., Le Beau, M. M., Morrison, C. G., & Passegué, E. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.06.014 · Cited by 599 · cited 3× · see citing works
“[72] compared the response of Lin−c-Kit+Sca-1+Flk-2− HSCs and early myeloid progenitor cells to low dose γ-radiation (2Gy); HSCs tended to repair damaged DNA, whereas progenitors were more likely to undergo apoptosis.”
BackgroundResultDNA repair is limiting for haematopoietic stem cells during ageing
Nijnik, A., Woodbine, L., Marchetti, C., Dawson, S., Lambe, T., Liu, C., Rodrigues, N. P., Crockford, T. L., Cabuy, E., Vindigni, A., et al. (2007) · Nature · doi:10.1038/nature05875 · Cited by 518 · see citing works
Buermeyer, A. B., Deschênes, S. M., Baker, S. M., & Liskay, R. M. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.533 · Cited by 447 · cited 1× · see citing works
“Mismatch repair (MMR) helps to maintain genomic integrity mainly by recognizing and correcting errors that occur during DNA replication or recombination, including base-base mismatches and insertion/deletion loops [54].”
BackgroundAlmeida, K. H., & Sobol, R. W. (2007) · DNA Repair · doi:10.1016/j.dnarep.2007.01.009 · Cited by 437 · see citing works
Excess of rare cancers in Werner syndrome (adult progeria).
Goto, M., Miller, R. W., Ishikawa, Y., & Sugano, H. (1996) · PubMed · Cited by 434 · see citing works
Role of non-homologous end joining (NHEJ) in maintaining genomic integrity
Burma, S., Chen, B. P. C., & Chen, D. J. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.05.026 · Cited by 423 · cited 1× · see citing works
“Depending on whether the single-strand overhangs on the DSB ends are compatible, minimal to extensive processing of the damaged ends is performed prior to ligation, determining the accuracy of the repair [48, 49].”
BackgroundSanz, G. F., Sanz, M. Á., Vallespı́, T., Cañizo, M., Torrabadella, M., Garcia, S., Irriguible, D., & Miguel, J. F. S. (1989) · Blood · doi:10.1182/blood.v74.1.395.395 · Cited by 407 · see citing works
Parker, J. E., Mufti, G. J., Rasool, F., Mijović, A., Devereux, S., & Pagliuca, A. (2000) · Blood · doi:10.1182/blood.v96.12.3932 · Cited by 361 · see citing works
A Differentiation Checkpoint Limits Hematopoietic Stem Cell Self-Renewal in Response to DNA Damage
Wang, J., Sun, Q., Morita, Y., Jiang, H., Groß, A., Lechel, A., Hildner, K., Guachalla, L. M., Gompf, A., Hartmann, D., et al. (2012) · Cell · doi:10.1016/j.cell.2012.01.040 · Cited by 343 · see citing works
Quesnel, B., Guillerm, G., Vereecque, R., Wattel, E., Preudhomme, C., Bauters, F., Vanrumbeke, M., & Fenaux, P. (1998) · Blood · doi:10.1182/blood.v91.8.2985.2985_2985_2990 · Cited by 341 · cited 1× · see citing works
“Hypermethylation of the CDKN2B gene promoter is particularly common, and associated with advanced stages of MDS [38, 39].”
BackgroundCeccaldi, R., Parmar, K., Mouly, E., Delord, M., Kim, J. M., Regairaz, M., Pla, M., Vasquez, N., Zhang, Q., Pondarré, C., et al. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.05.013 · Cited by 340 · cited 1× · see citing works
“A recent publication by Ceccaldi et al [75] showed that over-expression of TP53 also resulted in a reduced HSC pool; by initiating a CDKN1A (p21)-dependent permanent cell cycle arrest.”
BackgroundHematopoietic Fingerprints: An Expression Database of Stem Cells and Their Progeny
Chambers, S. M., Boles, N. C., Lin, K. K., Tierney, M., Bowman, T. V., Bradfute, S. B., Chen, A. J., Merchant, A. A., Sirin, O., Weksberg, D. C., et al. (2007) · Cell stem cell · doi:10.1016/j.stem.2007.10.003 · Cited by 318 · cited 1× · see citing works
“Third, a comparative microarray study of old versus young murine HSCs [107] shows (mostly) down-regulated expression of key components of the DNA repair machinery in aged HSCs.”
BackgroundAccumulation of DNA damage in hematopoietic stem and progenitor cells during human aging
Rübe, C. E., Fricke, A., Widmann, T. A., Fürst, T., Madry, H., Pfreundschuh, M., & Rübe, C. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017487 · Cited by 307 · cited 1× · see citing works
“Compared to the young, both mouse [90] and human blood cells [106] of aged individuals show significantly increased numbers of γH2AX foci, which are a (indirect) measure of DNA damage (Figure 2).”
BackgroundUnraveling the Molecular Pathophysiology of Myelodysplastic Syndromes
Bejar, R. L., Levine, R. L., & Ebert, B. L. (2011) · Journal of Clinical Oncology · doi:10.1200/jco.2010.31.1175 · Cited by 303 · see citing works
de Haan, G., NIJHOF, W., & Zant, G. E. V. (1997) · Blood · doi:10.1182/blood.v89.5.1543 · Cited by 300 · see citing works
Kurimasa, A., Kumano, S., Boubnov, N. V., Story, M. D., Tung, C., Peterson, S., & Chen, D. J. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.5.3877 · Cited by 298 · cited 10× · see citing works
“Indeed, it was also found that HR genes are significantly overexpressed in cycling HSCs relative to quiescent HSCs, while NHEJ genes and activity are down-regulated [72, 73].”
BackgroundInfluentialMilyavsky, M., Gan, O. I., Trottier, M., Komosa, M., Tabach, O., Notta, F., Lechman, E. R., Hermans, K. G., Eppert, K., Konovalova, Z., et al. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.05.016 · Cited by 280 · cited 1× · see citing works
“In human HSCs however, this picture is not as clear: it was found that Lin− CD34+CD38−CD90+CD45RA− HSCs were more sensitive to radiation than their committed myeloid progeny, and that they resorted to apoptosis rather than repair in response [74].”
BackgroundChen, M., Tomkins, D., Auerbach, W., McKerlie, C., Youssoufian, H., Liu, L., Gan, O., Carreau, M., Auerbach, A., Groves, T., et al. (1996) · Nature Genetics · doi:10.1038/ng0496-448 · Cited by 274 · see citing works
Hypermethylation of the p15INK4B Gene in Myelodysplastic Syndromes
Uchida, T., Kinoshita, T., Nagai, H., Nakahara, Y., Saito, H., Hotta, T., & Murate, T. (1997) · Blood · doi:10.1182/blood.v90.4.1403 · Cited by 265 · see citing works
Whitney, M., Royle, G., Low, M. J., Kelly, M., Axthelm, M., Reifsteck, C. A., Olson, S. D., Braun, R. E., Heinrich, M. C., Rathbun, R. K., et al. (1996) · Blood · doi:10.1182/blood.v88.1.49.bloodjournal88149 · Cited by 253 · see citing works
The impact of altered p53 dosage on hematopoietic stem cell dynamics during aging
Dumble, M. L., Moore, L. M., Chambers, S. M., Geiger, H., Zant, G. E. V., Goodell, M. A., & Donehower, L. A. (2006) · Blood · doi:10.1182/blood-2006-03-010413 · Cited by 241 · cited 1× · see citing works
“, differentiating and reconstituting ability) [77, 80], the presence of one hypermorphic Trp53 allele (Trp53+/m mice) progressively reduced the number and functionality of HSCs as animals aged [77].”
BackgroundEpidemiology of Myelodysplastic Syndromes
Ma, X. (2012) · The American Journal of Medicine · doi:10.1016/j.amjmed.2012.04.014 · Cited by 237 · see citing works
Whitney, M., Royle, G., Low, M. J., Kelly, M., Axthelm, M., Reifsteck, C. A., Olson, S., Braun, R. E., Heinrich, M. C., Rathbun, R. K., et al. (1996) · Blood · doi:10.1182/blood.v88.1.49.49 · Cited by 234 · see citing works
Lin, Y., Slape, C. I., Zhang, Z., & Aplan, P. D. (2005) · Blood · doi:10.1182/blood-2004-12-4794 · Cited by 231 · cited 1× · see citing works
“For example, NUP98/HOXD13 transgenic mice [28] show all the essential characteristics of human MDS, with 50% of mice spontaneously developing acute leukemia 4–14 months Zhou et al.”
BackgroundHitomi, K., Iwai, S., & Tainer, J. A. (2007) · DNA Repair · doi:10.1016/j.dnarep.2006.10.004 · Cited by 220 · see citing works
Ma, Y., Cui, W., Yang, J., Qu, J., Di, C., Amin, H. M., Lai, R., Ritz, J., Krause, D. S., & Chai, L. (2006) · Blood · doi:10.1182/blood-2006-02-001594 · Cited by 215 · see citing works
Cancer predisposition and hematopoietic failure in <i> Rad50 <sup>S/S</sup> </i> mice
Bender, C. F., Sikes, M. L., Sullivan, R., Huye, L. E., Le Beau, M. M., Roth, D. B., Mirzoeva, O. K., Oltz, E. M., & Petrini, J. H. J. (2002) · Genes & Development · doi:10.1101/gad.1007902 · Cited by 213 · cited 1× · see citing works
“Progressive bone marrow failure syndromes were also observed in mice lacking Atm [78] and in mice homozygous for a hypomorphic allele of Rad50 (Rad50s) [76, 79].”
BackgroundLoss of FancC Function Results in Decreased Hematopoietic Stem Cell Repopulating Ability
Haneline, L. S., Gobbett, T. A., Ramani, R., Carreau, M., Buchwald, M., Yöder, M. C., & Clapp, D. W. (1999) · Blood · doi:10.1182/blood.v94.1.1.413k03_1_8 · Cited by 192 · see citing works
Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype
Ben‐Yehuda, D., Krichevsky, S., Caspi, O., Rund, D. G., Polliack, A., Abeliovich, D., Zelig, O., Bogomolski-Yahalom, V., Paltiel, O., Or, R., et al. (1996) · Blood · doi:10.1182/blood.v88.11.4296.bloodjournal88114296 · Cited by 192 · see citing works
Proapoptotic BID is required for myeloid homeostasis and tumor suppression.Preprint
Zinkel, S. S., Ong, C., Ferguson, D., Iwasaki, H., Akashi, K., Bronson, R., Kutok, J., Alt, F., & Korsmeyer, S. (2003) · Genes & Development · doi:10.1101/gad.1045603 · Cited by 183 · cited 4× · see citing works
“In a later study, the same group also found increased levels of mRNA encoding cytochrome-C, as well as the pro-apoptotic proteins BID and BAX [66].”
BackgroundInfluentialRegulation of endonuclease activity in human nucleotide excision repair
Fagbemi, A. F., Orelli, B., & Schärer, O. D. (2011) · DNA repair · doi:10.1016/j.dnarep.2011.04.022 · Cited by 173 · cited 7× · see citing works
“In mammalian cells, there are two major NER subtypes: global genomic repair and transcription-coupled repair.”
BackgroundInfluentialRassool, F. V., Gaymes, T. J., Omidvar, N., Brady, N., Beurlet, S., Pla, M., Reboul, M., Lea, N. C., Chomienne, C., Thomas, N. S. B., et al. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-4807 · Cited by 171 · cited 1× · see citing works
“Interestingly, compound NRAS+BCL2 transgenic mice, which develop leukemia in early adulthood, showed an even higher proportion of cells with DNA damage (62%), suggesting that with increasing severity of disease state (from wild-type, via an MDS-like disease, to overt leukemia) the percentage of cells carrying DSBs dra…”
BackgroundGilliland, D. G. (2001) · Current Opinion in Hematology · doi:10.1097/00062752-200107000-00001 · Cited by 162 · see citing works
AML1 mutations induced MDS and MDS/AML in a mouse BMT model
Watanabe‐Okochi, N., Kitaura, J., Ono, R., Harada, H., Harada, Y., Komeno, Y., Nakajima, H., Nosaka, T., Inaba, T., & Kitamura, T. (2008) · Blood · doi:10.1182/blood-2007-01-068346 · Cited by 151 · see citing works
Numbers and functions of transplantable primitive immunohematopoietic stem cells. Effects of age.
Harrison, D. E., Astle, C. M., & Stone, M. (1989) · The Journal of Immunology · doi:10.4049/jimmunol.142.11.3833 · Cited by 148 · see citing works
Claessens, Y.-É., Bouscary, D., Dupont, J., Picard, F., Melle, J., Gisselbrecht, S., Lacombe, C., Dreyfus, F., Mayeux, P., & Fontenay, M. (2002) · Blood · doi:10.1182/blood.v99.5.1594 · Cited by 147 · cited 1× · see citing works
“Independently, another study showed that levels of Fas and FasL are both overexpressed at the surface of such cells [67].”
BackgroundNucleotide excision repair: new tricks with old bricks
Kamileri, I., Karakasilioti, I., & Garinis, G. A. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.06.004 · Cited by 146 · cited 2× · see citing works
“The former repairs DNA lesions that are identified at random by whole genome scanning, whereas the latter removes lesions that block the progression of RNA polymerase II in the transcriptional template of actively expressed genes [60].”
BackgroundThe genetic basis of phenotypic heterogeneity in myelodysplastic syndromes
Raza, A., & Galili, N. (2012) · Nature reviews. Cancer · doi:10.1038/nrc3321 · Cited by 140 · see citing works
Reduced hematopoietic reserves in DNA interstrand crosslink repair‐deficient Ercc1−/− mice
Prasher, J. M., Lalai, A. S., Heijmans‐Antonissen, C., Ploemacher, R., Hoeijmakers, J. H. J., Touw, I. P., & Niedernhofer, L. J. (2005) · The EMBO Journal · doi:10.1038/sj.emboj.7600542 · Cited by 135 · cited 3× · see citing works
“This is perhaps best illustrated by the DNAPKcs3A/3A and Ercc1−/− mice [89, 92].”
BackgroundTehranchi, R., Fadeel, B., Forsblom, A., Christensson, B., Samuelsson, J., Zhivotovsky, B., & Hellström‐Lindberg, E. (2003) · Blood · doi:10.1182/blood-2002-06-1774 · Cited by 130 · cited 1× · see citing works
“patients exhibited constitutive mitochondrial release of cytochrome-C with subsequent activation of caspase-9 [65].”
BackgroundImpaired hematopoietic stem cell functioning after serial transplantation and during normal aging
Kamminga, L. M., van Os, R., Ausema, A., Noach, E. J. K., Weersing, E., Dontje, B., Vellenga, E., & de Haan, G. (2005) · STEM CELLS · doi:10.1634/stemcells.2004-0066 · Cited by 128 · see citing works
Anemia in the Elderly: How Should We Define It, When Does It Matter, and What Can Be Done?
Steensma, D. P., & Tefferi, A. (2007) · Mayo Clinic Proceedings · doi:10.4065/82.8.958 · Cited by 128 · cited 1× · see citing works
“Investigating the hematopoietic system of healthy individuals (more than 65 years old) revealed that >10% show signs of anemia and modest leukopenia, a frequency which increases with age [98].”
Expansion of hematopoietic stem cell phenotype and activity in Trp53-null mice
TeKippe, M., Harrison, D. E., & Chen, J. (2003) · Experimental Hematology · doi:10.1016/s0301-472x(03)00072-9 · Cited by 126 · cited 1× · see citing works
“, differentiating and reconstituting ability) [77, 80], the presence of one hypermorphic Trp53 allele (Trp53+/m mice) progressively reduced the number and functionality of HSCs as animals aged [77].”
BackgroundCongenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair
Zhang, S., Yajima, H., Huynh, H., Zheng, J., Callén, E., Chen, H. T., Wong, N., Bunting, S. F., Lin, Y., Li, M., et al. (2011) · The Journal of Cell Biology · doi:10.1083/jcb.201009074 · Cited by 125 · cited 2× · see citing works
“This is perhaps best illustrated by the DNAPKcs3A/3A and Ercc1−/− mice [89, 92].”
BackgroundDNA double-strand break repair pathways, chromosomal rearrangements and cancer
Kasparek, T., & Humphrey, T. C. (2011) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2011.10.007 · Cited by 122 · cited 10× · see citing works
“Indeed, it was also found that HR genes are significantly overexpressed in cycling HSCs relative to quiescent HSCs, while NHEJ genes and activity are down-regulated [72, 73].”
BackgroundInfluentialDiagnosis of Myelodysplastic Syndrome Among a Cohort of 119 Patients With Fanconi Anemia
Cioc, A. M., Wagner, J. E., MacMillan, M. L., DeFor, T. E., & Hirsch, B. A. (2009) · American Journal of Clinical Pathology · doi:10.1309/ajcp7w9vmjenzovg · Cited by 115 · see citing works
Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1
Parmar, K., Kim, J., Sykes, S. M., Shimamura, A., Stuckert, P., Zhu, K., Hamilton, A., Deloach, M. K., Kutok, J. L., Akashi, K., et al. (2010) · Stem Cells · doi:10.1002/stem.437 · Cited by 113 · see citing works
Nilsson, L., Edén, P., Olsson, E., Månsson, R., Åstrand‐Grundström, I., Strömbeck, B., Theilgaard‐Mönch, K., Anderson, K., Hast, R., Hellström‐Lindberg, E., et al. (2007) · Blood · doi:10.1182/blood-2007-03-079368 · Cited by 112 · cited 1× · see citing works
“Myelodysplastic syndrome (MDS) represents a group of hematopoietic stem cell (HSC)based disorders [1, 2] that are characterized by ineffective differentiation, resulting in peripheral blood cytopenias of one or more myeloid lineages, bone marrow hypercellularity, myelodysplasia, and a high propensity to develop acute…”
BackgroundCarney, D. A., Westerman, D., Tam, C. S. L., Milner, A., Prince, H. M., Kenealy, M. K., Wolf, M., Januszewicz, E. H., Ritchie, D., Came, N. A., et al. (2010) · Leukemia · doi:10.1038/leu.2010.218 · Cited by 107 · cited 1× · see citing works
“Moreover, treatment with fludarabine, a chemotherapeutic drug that inhibits NER activity, is associated with an increased occurrence of t-MDS [62, 63].”
BackgroundPeddie, C. M., Wolf, C. R., McLellan, L. I., Collins, A. R., & Bowen, D. (1997) · British Journal of Haematology · doi:10.1046/j.1365-2141.1997.4373247.x · Cited by 106 · see citing works
Incidence and susceptibility to therapy-related myeloid neoplasms
Leone, G. G. M., Fianchi, L., Pagano, L., & Voso, M. T. (2009) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2009.12.013 · Cited by 104 · see citing works
Tehranchi, R. (2005) · Blood · doi:10.1182/blood-2004-12-4649 · Cited by 104 · cited 1× · see citing works
“In a later study, the same group also found increased levels of mRNA encoding cytochrome-C, as well as the pro-apoptotic proteins BID and BAX [66].”
BackgroundHematopoietic Dysfunction in a Mouse Model for Fanconi Anemia Group D1
Navarro, S., Meza, N. W., Bustamante, O. Q., Casado, J. A., Jacome, A., McAllister, K. A., Puerto, S., Surrallés, J., Segovia, J. C., & Bueren, J. A. (2006) · Molecular Therapy · doi:10.1016/j.ymthe.2006.05.018 · Cited by 102 · see citing works
Repopulating defect of mismatch repair–deficient hematopoietic stem cells
Reese, J., Liu, L., & Gerson, S. L. (2003) · Blood · doi:10.1182/blood-2002-10-3035 · Cited by 89 · cited 1× · see citing works
“The latter was elegantly demonstrated in a comparative study with temozolomide-treated wild-type and MSH2−/− mice [59].”
ResultIdentification of Chromatin Remodeling Genes Arid4a and Arid4b as Leukemia Suppressor Genes
Wu, M., Eldin, K. W., & Beaudet, A. L. (2008) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djn253 · Cited by 87 · see citing works
Replicative Senescence, Aging and Growth-Regulatory Transcription Factors
Dimri, G. P., Testori, A., Acosta, M., & Campisi, J. (1996) · Neurosignals · doi:10.1159/000109185 · Cited by 83 · see citing works
Myelodysplastic syndromes: 2012 update on diagnosis, risk‐stratification, and management
Garcia‐Manero, G. (2012) · American Journal of Hematology · doi:10.1002/ajh.23264 · Cited by 82 · cited 14× · see citing works
“Keywords myelodysplastic syndromes; DNA damage response; hematopoietic stem cell Introduction Myelodysplastic syndrome (MDS) represents a group of hematopoietic stem cell (HSC)based disorders [1, 2] that are characterized by ineffective differentiation, resulting in peripheral blood cytopenias of one or more myeloid l…”
InfluentialMyelodysplastic syndromes: molecular pathogenesis and genomic changes
Nolte, F., & Hofmann, W.-K. (2008) · Annals of Hematology · doi:10.1007/s00277-008-0502-z · Cited by 78 · cited 3× · see citing works
“The model depicted in Figure 1 proposes that at least two types of genetic mutations are required for both the initiation of MDS and its leukemic transformation [25, 26].”
BackgroundMethodSlape, C. I., Hartung, H. D., Lin, Y., Bies, J., Wolff, L., & Aplan, P. D. (2007) · Cancer Research · doi:10.1158/0008-5472.can-07-0075 · Cited by 70 · cited 1× · see citing works
“More direct evidence in support of the model outlined in Figure 1 has been provided by a retroviral insertion mutagenesis screen that identified a set of genes that, when mutated, synergize with NUP98/HOXD13 to significantly shorten the time between MDS and leukemia development.[33] Progression from MDS to AML in naiv…”
BackgroundTreatment-related myelodysplasia following fludarabine combination chemotherapy.
Tam, C. S. L., Seymour, J. F., Prince, H. M., Kenealy, M. K., Wolf, M., Januszewicz, E. H., & Westerman, D. (2006) · PubMed · Cited by 70 · see citing works
Bcl-2 expression by myeloid precursors in myelodysplastic syndromes: relation to disease progression
Davis, R. E., & Greenberg, P. L. (1998) · Leukemia Research · doi:10.1016/s0145-2126(98)00051-4 · Cited by 69 · cited 1× · see citing works
“In addition, deregulated expression of IER3 and BCL-2, two anti-apoptotic genes, has been associated with MDS progression [64, 68, 69].”
BackgroundExperience in Pediatric Myelodysplastic Syndromes
Gadner, H., & Haas, O. A. (1992) · Hematology/Oncology Clinics of North America · doi:10.1016/s0889-8588(18)30334-4 · Cited by 67 · see citing works
Holmquist, G. P. (1998) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(98)00051-7 · Cited by 64 · cited 1× · see citing works
“It is hard to imagine, however, that BER, which is essential to repair ROS-induced single nucleotide aberrations and thought to repair 104 to 106 nucleotides per cell per day [93], does not play an important role in maintaining the HSC pool, especially since the connection between increased ROS and abnormal HSC functi…”
BackgroundCarreau, M., Gan, O. I., Liu, L., Doedens, M., Dick, J. E., & Buchwald, M. (1999) · Experimental Hematology · doi:10.1016/s0301-472x(99)00102-2 · Cited by 62 · see citing works
Slape, C. I., Liu, L. Y., Beachy, S. H., & Aplan, P. D. (2008) · Blood · doi:10.1182/blood-2008-01-135186 · Cited by 61 · cited 1× · see citing works
“[33] Progression from MDS to AML in naive NUP98/HOXD13 mice can also be accompanied by spontaneously occurring Nras, Kras or Cbl mutations [34].”
BackgroundOmidvar, N., Kogan, S. C., Beurlet, S., Pogam, C. L., Janin, A., West, R., Noguera, M., Reboul, M., Soulié, A., Lebœuf, C., et al. (2007) · Cancer Research · doi:10.1158/0008-5472.can-07-0196 · Cited by 61 · see citing works
Myelodysplastic Syndromes Arising in Patients With Germline TP53 Mutation and Li-Fraumeni Syndrome
Talwalkar, S. S., Yin, C. C., Naeem, R. C., Hicks, J. M., Strong, L. C., & Abruzzo, L. V. (2010) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2009-0015-oa.1 · Cited by 60 · see citing works
A Report of Two Cases of Werner's Syndrome and Review of the Literature
Yamamoto, K., Imakiire, A., Miyagawa, N., & Kasahara, T. (2003) · Journal of orthopaedic surgery · doi:10.1177/230949900301100222 · Cited by 56 · see citing works
Genetics of Myelodysplastic Syndromes: New Insights
Graubert, T. A., & Walter, M. J. (2011) · Hematology · doi:10.1182/asheducation-2011.1.543 · Cited by 55 · see citing works
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies
Poppe, B. G., Limbergen, H. V., Roy, N. V., Vandecruys, E., Paepe, A. D., Benoît, Y., & Speleman, F. (2001) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(01)00392-2 · Cited by 55 · see citing works
Casorelli, I. (2003) · DNA repair · doi:10.1016/s1568-7864(03)00020-x · Cited by 52 · see citing works
Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia
Pianigiani, E., Aloe, G. D., Andreassi, A., Rubegni, P., & Fimiani, M. (2001) · Pediatric Dermatology · doi:10.1046/j.1525-1470.2001.01971.x · Cited by 51 · see citing works
UV irradiation induces a postreplication DNA damage checkpoint
Callegari, A. J., & Kelly, T. J. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0607343103 · Cited by 51 · cited 1× · see citing works
“DNA damage, replication and spindle checkpoints [36, 37] operate to ensure that each stage of the cell cycle has been completed faithfully before proceeding to the next.”
BackgroundTransplantation of a myelodysplastic syndrome by a long-term repopulating hematopoietic cell
Chung, Y. J., Choi, C. W., Slape, C. I., Fry, T. J., & Aplan, P. D. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804507105 · Cited by 45 · cited 1× · see citing works
“Myelodysplastic syndrome (MDS) represents a group of hematopoietic stem cell (HSC)based disorders [1, 2] that are characterized by ineffective differentiation, resulting in peripheral blood cytopenias of one or more myeloid lineages, bone marrow hypercellularity, myelodysplasia, and a high propensity to develop acute…”
BackgroundOxidative DNA damage in bone marrow cells of patients with low-risk myelodysplastic syndrome
Novotná, B., Bagryantseva, Y., Šišková, M., & Neuwirtová, R. (2008) · Leukemia Research · doi:10.1016/j.leukres.2008.07.005 · Cited by 45 · see citing works
The molecular pathogenesis of myelodysplastic syndromes
Davids, M. S., & Steensma, D. P. (2010) · Cancer Biology & Therapy · doi:10.4161/cbt.10.4.12612 · Cited by 40 · see citing works
Base excision repair dysfunction in a subgroup of patients with myelodysplastic syndrome
Jankowska, A. M., Gondek, L. P., Szpurka, H., Nearman, Z. P., Tiu, R. V., & Maciejewski, J. (2007) · Leukemia · doi:10.1038/sj.leu.2405055 · Cited by 39 · see citing works
Steensma, D. P., Neiger, J. D., Porcher, J. C., Keats, J. J., Bergsagel, P. L., Dennis, T. R., Knudson, R. A., Jenkins, R. B., Santana-Dávila, R., Kumar, R., et al. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-1428 · Cited by 38 · cited 1× · see citing works
“In addition, deregulated expression of IER3 and BCL-2, two anti-apoptotic genes, has been associated with MDS progression [64, 68, 69].”
BackgroundLucas, D., Escudero, B., Ligos, J. M., Segovia, J. C., Estrada, J. C., Terrados, G., Blanco, L., Samper, E., & Bernad, A. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000389 · Cited by 36 · see citing works
Rothmund–Thomson Syndrome with Myelodysplasia
Narayan, S., Fleming, C., Trainer, A. H., & Craig, J. A. (2001) · Pediatric Dermatology · doi:10.1046/j.1525-1470.2001.018003210.x · Cited by 35 · see citing works
Olipitz, W., Hopfinger, G., Aguiar, R. C. T., Gunsilius, E., Girschikofsky, M., Bodner, C., Hiden, K., Linkesch, W., Höefler, G., & Sill, H. (2002) · Genes Chromosomes and Cancer · doi:10.1002/gcc.10059 · Cited by 33 · see citing works
Myelodysplastic Syndrome in a Child With Rothmund-Thomson Syndrome
&NA; (1996) · Journal of Pediatric Hematology/Oncology · doi:10.1097/00043426-199602000-00020 · Cited by 30 · see citing works
Barnard, D., & Woods, W. (2005) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428190500051042 · Cited by 29 · see citing works
Elghetany, M. T. (2007) · PubMed · doi:10.5858/2007-131-1110-msicac · Cited by 28 · see citing works
Zimmer, S. N., Lemieux, M. E., Karia, B., Day, C., Zhou, T., Zhou, Q., Kung, A. L., Suresh, U., Chen, Y., Kinney, M. C., et al. (2011) · Experimental Hematology · doi:10.1016/j.exphem.2011.12.004 · Cited by 27 · cited 1× · see citing works
“A potential deficit in BER has also recently been reported in the Crebbp+/− mouse model of MDS [32].”
BackgroundSelf-citationChromosomal instability and radiosensitivity in myelodysplastic syndrome cells
Kuramoto, K., Ban, S., Oda, K., Tanaka, H., Kimura, A., & Suzuki, G. (2002) · Leukemia · doi:10.1038/sj.leu.2402703 · Cited by 24 · cited 1× · see citing works
“Expression levels of ERCC3, ERCC5 and XPC, three essential genes of the NER pathway, were decreased in 10% of patients at a low risk for leukemic transformation, and in 40% of patients at a high risk for leukemic transformation [61].”
BackgroundShao, L., Feng, W., Lee, K. J., Chen, B. P. C., & Zhou, D. (2012) · PLoS ONE · doi:10.1371/journal.pone.0033499 · Cited by 23 · cited 1× · see citing works
“Indeed, it was also found that HR genes are significantly overexpressed in cycling HSCs relative to quiescent HSCs, while NHEJ genes and activity are down-regulated [72, 73].”
BackgroundAccelerated cellular senescence in myelodysplastic syndrome
Wang, Y.-Y., Cen, J., He, J., Shen, H.-J., Liu, D., Li, Y., Qi, X., & Chen, Z. (2009) · Experimental Hematology · doi:10.1016/j.exphem.2009.09.002 · Cited by 20 · cited 12× · see citing works
“Keywords myelodysplastic syndromes; DNA damage response; hematopoietic stem cell Introduction Myelodysplastic syndrome (MDS) represents a group of hematopoietic stem cell (HSC)based disorders [1, 2] that are characterized by ineffective differentiation, resulting in peripheral blood cytopenias of one or more myeloid l…”
BackgroundInfluentialTreatment-related myelodysplastic syndrome: molecular characteristics and therapy
Bhatia, R., & Deeg, H. J. (2011) · Current Opinion in Hematology · doi:10.1097/moh.0b013e328343997a · Cited by 18 · see citing works
Morales, M., Liu, Y., Laiakis, E. C., Morgan, W. F., Nimer, S. D., & Petrini, J. H. J. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-2355 · Cited by 17 · cited 1× · see citing works
“Progressive bone marrow failure syndromes were also observed in mice lacking Atm [78] and in mice homozygous for a hypomorphic allele of Rad50 (Rad50s) [76, 79].”
BackgroundATM polymorphism is associated with low risk myelodysplastic syndrome
Ribeiro, H. L., de Oliveira, R. T. G., Maia, A. R. S., de Sousa, J. C., Heredia, F. F., Magalhães, S. M. M., & Pinheiro, R. F. (2012) · DNA repair · doi:10.1016/j.dnarep.2012.10.010 · Cited by 15 · cited 1× · see citing works
“Interestingly, a particular polymorphism of the ATM gene was found to be associated with MDS [40], however, this polymorphism has not been linked yet to an aberrant function of ATM.”
BackgroundPuthiyaveetil, A. G., Reilly, C. M., Pardee, T. S., & Caudell, D. L. (2012) · Leukemia Research · doi:10.1016/j.leukres.2012.10.012 · Cited by 14 · cited 1× · see citing works
“Aberrant NHEJ may also be a contributing factor to MDS development in NUP98/ HOXD13 transgenic mice; expression levels of important NHEJ genes (including DNAPKcs, Lig4 and Xrcc4) were reduced in B cells of these mice [52] and this was accompanied by impaired class switch recombination [53], a process that depends on p…”
BackgroundThe MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients
Alemayehu, A., & Fridrichová, I. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201858 · Cited by 14 · cited 1× · see citing works
“In protein-coding regions, defective MMR accounts for frameshifts and/or premature stop codons often leading to truncated, inactive proteins [55].”
BackgroundA role of the mitotic spindle checkpoint in the cellular response to DNA replication stress
Duensing, A. U., Teng, X., Liu, Y., Tseng, M., Spardy, N. A., & Duensing, S. M. (2006) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20962 · Cited by 12 · cited 1× · see citing works
“DNA damage, replication and spindle checkpoints [36, 37] operate to ensure that each stage of the cell cycle has been completed faithfully before proceeding to the next.”
BackgroundMyelodysplastic Syndromes and Rts
İnci, İ., Arıkan, Ü., & Büyükpamukçu, M. (1996) · Pediatric Hematology and Oncology · doi:10.3109/08880019609030815 · Cited by 8 · see citing works
Puthiyaveetil, A. G., Heid, B., Reilly, C. M., HogenEsch, H., & Caudell, D. L. (2012) · Experimental Hematology · doi:10.1016/j.exphem.2012.05.002 · Cited by 5 · cited 1× · see citing works
“Aberrant NHEJ may also be a contributing factor to MDS development in NUP98/ HOXD13 transgenic mice; expression levels of important NHEJ genes (including DNAPKcs, Lig4 and Xrcc4) were reduced in B cells of these mice [52] and this was accompanied by impaired class switch recombination [53], a process that depends on p…”
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Telomere dysfunction in ageing and age-related diseases
Rossiello, F., Jurk, D., Passos, J. F., & d’Adda di Fagagna, F. (2022) · Nature Cell Biology · doi:10.1038/s41556-022-00842-x · Cited by 754 · see citing works
Chen, L., Chen, J., Huang, Y.-J., Gu, Y., Qiu, J., Qian, H., Shao, C., Zhang, X., Hu, J., Li, H., et al. (2018) · Molecular Cell · doi:10.1016/j.molcel.2017.12.029 · Cited by 295 · see citing works
“…various observations have pointed to the association of genome instability with MDS (Colla et al., 2015; Makishima et al., 2017; Nguyen et al., 2017; Zhou et al., 2013), our data unveil a potential mechanism for increased but limited genome instability because of augmented R-loop formation.”
InfluentialDefective control of pre–messenger RNA splicing in human disease
Chabot, B., & Shkreta, L. (2016) · The Journal of Cell Biology · doi:10.1083/jcb.201510032 · Cited by 209 · see citing works
Adult Stem Cells and Diseases of Aging
Boyette, L., & Tuan, R. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3010088 · Cited by 108 · see citing works
“The hypothesis is now being investigated that this is caused by agerelated genomic instability, causing a defective DNA damage response that results in abnormal differentiation of HSCs (reviewed in [26]).”
BackgroundTelomere Dysfunction Drives Aberrant Hematopoietic Differentiation and Myelodysplastic Syndrome
Colla, S., Ong, D. S. T., Ogoti, Y., Marchesini, M., Mistry, N. A., Clise-Dwyer, K., Ang, S. A., Storti, P., Viale, A., Giuliani, N., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.04.007 · Cited by 105 · see citing works
“MDS incidence has risen dramatically in recent years (Rollison et al., 2008) and is associated with advanced age, shorter telomeres, cancer chemotherapy with alkylating agents, radiation, and inherited syndromes related to abnormalities in DNA repair (Zhou et al., 2013).”
BackgroundKomeno, Y., Huang, Y.-J., Qiu, J., Lin, L., Xu, Y., Zhou, Y., Chen, L., Monterroza, D. D., Li, H., DeKelver, R. C., et al. (2015) · Molecular and Cellular Biology · doi:10.1128/mcb.00202-15 · Cited by 100 · see citing works
“MDS cells were noted to be highly apoptotic at early stages, likely reflecting a key mechanism to eliminate cells, and eventually become malignant (1, 2, 46).”
BackgroundStoddart, A., Fernald, A. A., Wang, J., Davis, E. M., Karrison, T. G., Anastasi, J., & Beau, M. M. L. (2014) · Blood · doi:10.1182/blood-2013-07-517953 · Cited by 88 · see citing works
“In contrast, the acquisition of inactivating mutations of TP53 appears to play a role in progression of the disease to AML.(37,38) The hypothesis that multiple genes on 5q cooperate with TP53 mutations in the pathogenesis of MDS and AML arising from MDS is supported by several recent reports of candidate gene analysis…”
ResultInfluentialEsposito, M., & So, C. (2014) · Chromosoma · doi:10.1007/s00412-014-0482-9 · Cited by 85 · see citing works
de Laval, B., Pawlikowska, P., Barbieri, D., Besnard‐Guérin, C., Cico, A., Kumar, R., Gaudry, M., Baud, V., & Porteu, F. (2013) · Blood · doi:10.1182/blood-2013-07-515874 · Cited by 77 · see citing works
Denoyer, D., Lobachevsky, P. N., Jackson, P. A., Thompson, M., Martin, O. A., & Hicks, R. J. (2015) · Journal of Nuclear Medicine · doi:10.2967/jnumed.114.145581 · Cited by 62 · see citing works
“The absorbed doses to these organs and induction of DNA damage may be of concern given that MDS has been associated with prior anticancer therapy and abnormal DNA repair (30).”
BackgroundThomas, M. E., Abdelhamed, S., Hiltenbrand, R., Schwartz, J. R., Sakurada, S. M., Walsh, M. F., Song, G., Ma, J., Pruett‐Miller, S. M., & Klco, J. M. (2021) · Leukemia · doi:10.1038/s41375-021-01212-6 · Cited by 58 · see citing works
DNA damage in aging, the stem cell perspective
McNeely, T., Leone, M., Yanai, H., & Beerman, I. (2020) · Human Genetics · doi:10.1007/s00439-019-02047-z · Cited by 52 · see citing works
Wei, C., Xiao, Q., Kuang, X., Zhang, T., Yang, Z., & WANG, L. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.4252 · Cited by 49 · see citing works
“The human MDS/AML cell line SKM-1 was provided by Professor Jianfeng Zhou (Department of Hematology, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China).”
InfluentialPericole, F. V., Lazarini, M., de Paiva, L. B., Duarte, A. S. S., Ferro, K. P., Niemann, F. S., Roversi, F. M., & Saad, S. T. O. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.00016 · Cited by 48 · see citing works
“Progression to acutemyeloid leukemia (AML) occurs in one third of the patients, and it is believed to be the result of increased genomic instability (1).”
BackgroundCocco, L., Finelli, C., Mongiorgi, S., Clissa, C., Russo, D., Bosi, C., Quaranta, M., Malagola, M., Parisi, S., Stanzani, M., et al. (2015) · Journal of Leukocyte Biology · doi:10.1189/jlb.2ma1114-541r · Cited by 34 · see citing works
“At a genetic level, the presence of a PI-PLCb1 monoallelic deletion in MDS patients has been associated with a higher probability of evolution into AML [39], so that the early identification of this deletion could be important, especially in the light of the great genetic instability that characterizes MDS cells [40].”
BackgroundLutzmann, M., Bernex, F., de Jesus, C. D. C., Hodroj, D., Marty, C., Plo, I., Vainchenker, W., Tosolini, M., Forichon, L., Bret, C., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.07.095 · Cited by 33 · see citing works
Jiang, M., Chen, Y., Deng, L., Luo, X., Wang, L., & Liu, L. (2019) · DNA and Cell Biology · doi:10.1089/dna.2018.4521 · Cited by 29 · see citing works
“(Pilo et al. , 2010; Foran and Shammo, 2012; Zhou et al. , 2013).”
Benetatos, L., & Vartholomatos, G. (2016) · Annals of Hematology · doi:10.1007/s00277-016-2636-8 · Cited by 29 · see citing works
Vasko, T., Kaifie, A., Stope, M. B., Kraus, T., & Ziegler, P. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18112267 · Cited by 29 · see citing works
“Myelodysplastic syndromes (MDS) are a heterogenous group of clonal diseases in HSPCs, which result in ineffective hematopoiesis and subsequent cytopenia and dysplasia [66].”
BackgroundZhou, T., Chen, P., Gu, J. H., Bishop, A. J. R., Scott, L., Hasty, P., & Rebel, V. I. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16010966 · Cited by 26 · see citing works
“Recent studies in mice have revealed that classical NHEJ is utilized by quiescent HSCs to maintain their genomic integrity (please see [112] for an extensive discussion of this topic).”
BackgroundSelf-citationDevelopment of cancer-initiating cells and immortalized cells with genomic instability
Yoshioka, K. (2015) · World Journal of Stem Cells · doi:10.4252/wjsc.v7.i2.483 · Cited by 24 · see citing works
Faraoni, I., Consalvo, M. I., Aloisio, F. M., Fabiani, E., Giansanti, M., Cristino, F. D., Falconi, G., Tentori, L., Veroli, A. D., Curzi, P., et al. (2019) · Cancers · doi:10.3390/cancers11091373 · Cited by 16 · see citing works
“Interestingly, higher-risk MDS are characterized by a decrease of apoptosis and high levels of genomic instability, likely as a consequence of the observed alterations in DNA damage response pathways [25,26].”
BackgroundTelomerase‐based therapies in haematological malignancies
Rafat, A., Asl, K. D., Mazloumi, Z., Movassaghpour, A. A., Farahzadi, R., Nejati, B., & Charoudeh, H. N. (2022) · Cell Biochemistry and Function · doi:10.1002/cbf.3687 · Cited by 16 · see citing works
“ineffective haematopoiesis, cytopenia, dysplastic features and propensity which progresses into acute myeloid leukaemia (AML).(86) Due to”
BackgroundHuang, Y.-J., Chen, J., Yan, M., Davis, A. G., Miyauchi, S., Chen, L., Hao, Y., Katz, S., Bejar, R. L., Abdel-Wahab, O. I., et al. (2022) · Blood Advances · doi:10.1182/bloodadvances.2022007804 · Cited by 15 · see citing works
“Importantly, among misspliced transcripts in human andmouse double mutant cells, we observed significant enrichment of genes involved in cell cycle regulation and the DNA damage response, characteristic of MDS.36,37 Our data agree with a recent report that also identified overrepresentation of misspliced cell cycle an…”
ResultInfluentialGermline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome
Arai, H., Matsui, H., Chi, S., Utsu, Y., Masuda, S., Aotsuka, N., & Minami, Y. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25010652 · Cited by 14 · see citing works
“The effects on ribosome biology, DNA damage, and the resulting genomic instability are thought to promote the observed apoptotic phenotype [182,183] and ultimately lead to reduced bone marrow cellularity.”
BackgroundByrne, M. T., Bennett, R. L., Cheng, X., & May, W. S. (2014) · Neoplasia · doi:10.1016/j.neo.2014.07.004 · Cited by 11 · see citing works
“Discussion In MDS, genomic instability is a complex and multifactorial process with microsatellite instability and aberrant DNA repair [4,17,18].”
BackgroundPediatric myelodysplastic syndrome
Babcock, S. J., Calvo, K. R., & Hasserjian, R. P. (2023) · Seminars in Diagnostic Pathology · doi:10.1053/j.semdp.2023.04.006 · Cited by 9 · see citing works
Actein induces apoptosis in leukemia cells through suppressing RhoA/ROCK1 signaling pathway
Zhou, W., Wang, X., Sun, X., Hu, J. P., Zhang, R., & Hong, Z. (2017) · International Journal of Oncology · doi:10.3892/ijo.2017.4150 · Cited by 9 · see citing works
“There are no surgical options owing to the body-wide distribution of malignant cells (6,7).”
Valka, J., Veselá, J., Votavová, H., Merkerová, M. D., Hořáková, Z., Campr, V., Březinová, J., Zemanová, Z., Jonasova, A. T., Čermák, J., et al. (2017) · European Journal Of Haematology · doi:10.1111/ejh.12920 · Cited by 7 · see citing works
The value of serum IL-4 to predict the survival of MDS patients
Liu, Z., Xu, X., Zheng, L., Ding, K., Yang, C., Huang, J., & Fu, R. (2023) · European journal of medical research · doi:10.1186/s40001-022-00948-w · Cited by 6 · see citing works
“Many underlying diseases with anemia as the main presentation, such as myelodysplastic syndrome (MDS), develop preferentially in the elderly [48, 49].”
BackgroundVisani, G., Loscocco, F., Ruzzo, A., Galimberti, S., Graziano, F., Voso, M. T., Giacomini, E., Finelli, C., Ciabatti, E., Fabiani, E., et al. (2017) · The Pharmacogenomics Journal · doi:10.1038/tpj.2017.48 · Cited by 4 · see citing works
Than, H., Fan, X., Cheung, A. M. S., Hwang, W. Y. K., & Poon, Z. (2024) · Stem Cells · doi:10.1093/stmcls/sxae073 · Cited by 2 · see citing works
Salari, A., Thomay, K., Lentes, J., Ebersold, J., Hagedorn, M., Skawran, B., Davenport, C., Schambach, A., Schlegelberger, B., & Göhring, G. (2018) · Oncotarget · doi:10.18632/oncotarget.25581 · Cited by 2 · see citing works
“In myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), TP53 mutation and TP53 loss is associated with clonal evolution, complex karyotypes and a very poor prognosis [1, 2].”
ResultInfluentialGlobal analysis of alternative splicing in human cells of myeloid origin
Alberto, L. P. (2018) · doi:10.32657/10356/74234
Relationship between Rac1 levels and neutrophil counts in myelodysplastic syndrome patients
Shikama, Y. (2018) · Integrative Clinical Medicine · doi:10.15761/icm.1000127
“Senescence-associated features of hematopoietic cells with heterogenous expression of DDR markers observed in MDS [18,19] may be related with insufficient expression of Rac1.”
Basic Hematopoiesis and Leukemia Stem Cells
Hwang, W. Y. K., Bari, S., Ng, L. G., Itahana, K., Li, S., Koh, J. Y. P., & Than, H. (2023) · Springer eBooks · doi:10.1007/978-981-99-3810-0_1
Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms
Kongkiatkamon, S., Niparuck, P., Rattanathammethee, T., Kobbuaklee, S., Suksusut, A., Wudhikarn, K., Ittiwut, C., Chetruengchai, W., Chuncharunee, S., Bunworasate, U., et al. (2024) · Journal of Clinical Pathology · doi:10.1136/jcp-2023-209264
Additional file 1 of The value of serum IL-4 to predict the survival of MDS patients
Liu, Z., Xu, X., Zheng, L., Ding, K., Yang, C., Huang, J., & Fu, R. (2023) · Figshare · doi:10.6084/m9.figshare.22602170
- Authors
- Zhou, T., Hasty, P., Walter, C. A., Bishop, A. J. R., Scott, L. M., & Rebel, V. I.
- Affiliations
- The University of Texas at San Antonio Health Science Center (US)
- The University of Queensland (AU)
- Corresponding author
- Rebel, Vivienne I.
- Venue
- Experimental Hematology
- Publisher
- Elsevier BV
- Published
- 2013-08
- Volume
- 41
- Issue
- 8
- Pages
- 665-674
- ISSN
- 0301-472X (ISSN-L)
- PMC
- PMC3729593
- OpenAlex
- W2166346966
- Cited by
- 39
- References
- 109
- Citations by year
- 2024: 3 · 2023: 4 · 2022: 3 · 2021: 1 · 2019: 5 · 2018: 4 · 2017: 5 · 2016: 2 · 2015: 7 · 2014: 4 · 2013: 1
- FWCI
- 0.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Experimental Hematology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5r21ag033339-02)
- National Institute on Aging (5R21AG033339, R21 AG033339, P01AG017242)
- National Institute of Environmental Health Sciences (R01ES022054)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Keywords
- myelodysplastic syndrome, DNA damage response, DNA repair, genomic instability, hematopoietic stem cells, acute myeloid leukemia progression, aging, cancer therapy
- MeSH terms
- Animals, DNA Damage, DNA Repair, Hematopoiesis, Humans, Myelodysplastic Syndromes, Apoptosis, Disease Progression, Genomic Instability, Mice
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