Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis
Abstract
Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared with tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape of Ataxia Telangiectasia ALL is clearly distinct from that of sporadic ALL. Mechanistically, short telomeres and compromised DNA damage response in cells of Ataxia Telangiectasia patients may be linked with frequent chromothripsis. Furthermore, we show that ATM loss is associated with increased chromothripsis prevalence in additional tumor entities.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Chromothripsis and BFB occur in many tumour types, and germline ATM and TP53 variants have been linked to such complex rearrangements in acute lymphoblastic leukaemia and medulloblastoma.
“Chromothripsis and BFB have been reported in numerous tumour types, and intriguingly, germline variants in ATM and TP53 were associated with such complex structural rearrangements in acute lymphoblastic leukaemia [26] and medulloblastoma [27].”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [26]
Cites
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660 · see citing works
Self-citationMassive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414 · see citing works
Pan-cancer patterns of somatic copy number alteration
Zack, T. I., Schumacher, S. E., Carter, S. L., Cherniack, A. D., Saksena, G., Tabak, B., Lawrence, M. S., Zhang, C., Wala, J. A., Mermel, C. H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2760 · Cited by 1,843 · see citing works
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596 · see citing works
DNA breaks and chromosome pulverization from errors in mitosis
Crasta, K., Ganem, N. J., Dagher, R., Lantermann, A. B., Ivanova, E. V., Pan, Y., Nezi, L., Protopopov, A., Chowdhury, D., & Pellman, D. (2012) · Nature · doi:10.1038/nature10802 · Cited by 1,227 · see citing works
Chromothripsis from DNA damage in micronuclei
Zhang, C., Spektor, A., Cornils, H., Francis, J. M., Jackson, E. K., Liu, S., Meyerson, M. M., & Pellman, D. S. (2015) · Nature · doi:10.1038/nature14493 · Cited by 1,129 · see citing works
Rausch, T., Jones, D. T. W., Zapatka, M., Stütz, A. M., Zichner, T., Weischenfeldt, J., Jäger, N., Remke, M., Shih, D., Northcott, P. A., et al. (2012) · Cell · doi:10.1016/j.cell.2011.12.013 · Cited by 865 · see citing works
Self-citationThe many substrates and functions of ATM.
Kastan, M. B., & Lim, D.-S. (2000) · Nature Reviews Molecular Cell Biology · doi:10.1038/35043058 · Cited by 779 · see citing works
Chromothripsis and Kataegis Induced by Telomere Crisis
Maciejowski, J., Li, Y., Bosco, N., Campbell, P. J., & de Lange, T. (2015) · Cell · doi:10.1016/j.cell.2015.11.054 · Cited by 675 · see citing works
Leukemia and lymphoma in ataxia telangiectasia
Taylor, A. M. R., Metcalfe, J. W., Thick, J. A., & Mak, Y. F. (1996) · Blood · doi:10.1182/blood.v87.2.423.bloodjournal872423 · Cited by 589 · see citing works
Criteria for Inference of Chromothripsis in Cancer Genomes
Korbel, J. O., & Campbell, P. J. (2013) · Cell · doi:10.1016/j.cell.2013.02.023 · Cited by 519 · see citing works
Self-citationPapaemmanuil, E., Rapado, I., Li, Y., Potter, N. E., Wedge, D. C., Tubío, J. M. C., Alexandrov, L. B., Loo, P. V., Cooke, S. L., Marshall, J., et al. (2014) · Nature Genetics · doi:10.1038/ng.2874 · Cited by 393 · see citing works
Self-citationAccelerated telomere shortening in ataxia telangiectasia
Metcalfe, J. A., Parkhill, J., Campbell, L. J., Stacey, M. W., Biggs, P., Byrd, P. J., & Taylor, A. M. R. (1996) · Nature Genetics · doi:10.1038/ng0796-350 · Cited by 338 · see citing works
Mortality and Cancer Incidence in 263 Patients With Ataxia-Telangiectasia 2
Morrell, D., Cromartie, E., & Michael Swift, M. D. 4. (1986) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/77.1.89 · Cited by 307 · see citing works
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia
Li, Y., Schwab, C. J., Ryan, S. L., Papaemmanuil, E., Robinson, H. M., Jacobs, P. A., Moorman, A. V., Dyer, S., Borrow, J., Griffiths, M., et al. (2014) · Nature · doi:10.1038/nature13115 · Cited by 270 · see citing works
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
Conrad, D. F., Bird, C., Blackburne, B. P., Lindsay, S., Mamanova, L., Lee, C., Turner, D., & Hurles, M. E. (2010) · Nature Genetics · doi:10.1038/ng.564 · Cited by 254 · see citing works
Edelmann, J., Holzmann, K., Miller, F., Winkler, D. F. H., Bühler, A., Zenz, T., Bullinger, L., Kühn, M. W. M., Gerhardinger, A., Bloehdorn, J., et al. (2012) · Blood · doi:10.1182/blood-2012-04-423517 · Cited by 196 · see citing works
Self-citationVerhagen, M. M. M., Last, J. I. K., Hogervorst, F. B. L., Smeets, D., Roeleveld, N., Verheijen, F. W., Catsman‐Berrevoets, C. E., Wulffraat, N. M., Cobben, J. M., Hiel, J. A. P., et al. (2011) · Human Mutation · doi:10.1002/humu.22016 · Cited by 175 · see citing works
ATM function and telomere stability
Pandita, T. K. (2002) · Oncogene · doi:10.1038/sj.onc.1205060 · Cited by 164 · see citing works
Association of micronucleus frequency with neurodegenerative diseases
Migliore, L., Coppedè, F., Fenech, M. F., & Thomas, P. (2010) · Mutagenesis · doi:10.1093/mutage/geq067 · Cited by 149 · see citing works
The Role of Double-Strand Break Repair Pathways at Functional and Dysfunctional TelomeresPreprint
Doksani, Y., & de Lange, T. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016576 · Cited by 134 · see citing works
Specific chromosome aberrations in ataxia telangiectasia.
Oxford, J. M., Harnden, D. G., Parrington, J. M., & Delhanty, J. D. A. (1975) · Journal of Medical Genetics · doi:10.1136/jmg.12.3.251 · Cited by 126 · see citing works
Chromothripsis in cancer cells: An update
Rode, A., Maaß, K. K., Willmund, K. V., Lichter, P., & Ernst, A. (2015) · International Journal of Cancer · doi:10.1002/ijc.29888 · Cited by 125 · see citing works
Self-citationRemke, M., Pfister, S. M., Kox, C., Toedt, G., Becker, N., Benner, A., Werft, W., Breit, S., Liu, S., Engel, F., et al. (2009) · Blood · doi:10.1182/blood-2008-10-186536 · Cited by 123 · see citing works
Self-citationDifferential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBSPreprint
Shull, E. R. P., Lee, Y., Nakane, H., Stracker, T. H., Zhao, J., Russell, H. R., Petrini, J. H. J., & McKinnon, P. J. (2009) · Genes & Development · doi:10.1101/gad.1746609 · Cited by 104 · see citing works
Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia
Parker, H., Rose-Zerilli, M. J. J., Larráyoz, M., Clifford, R. M., Edelmann, J., Blakemore, S. J., Gibson, J., Wang, J., Ljungström, V., Wojdacz, T. K., et al. (2016) · Leukemia · doi:10.1038/leu.2016.134 · Cited by 83 · see citing works
Self-citationTelomere dysfunction and chromothripsis
Ernst, A., Jones, D., Maaß, K. K., Rode, A., Deeg, K. I., Jebaraj, B. M. C., Korshunov, A., Hovestadt, V., Tainsky, M. A., Pajtler, K. W., et al. (2016) · International Journal of Cancer · doi:10.1002/ijc.30033 · Cited by 59 · see citing works
Self-citationFoxQ1 Promotes Glioma Cells Proliferation and Migration by Regulating NRXN3 Expression
Sun, H., Cheng, S., Tu, Y., Li, X.-H., & Zhang, S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055693 · Cited by 53 · see citing works
Extreme telomere erosion in ATM-mutated and 11q-deleted CLL patients is independent of disease stage
Britt‐Compton, B., Lin, T., Ahmed, G., Weston, V., Jones, R. E., Fegan, C., Oscier, D., Stanković, T., Pepper, C. J., & Baird, D. M. (2011) · Leukemia · doi:10.1038/leu.2011.281 · Cited by 44 · see citing works
Domenico, E. G. D., Romano, E., Porto, P. D., & Ascenzioni, F. (2014) · BioMed Research International · doi:10.1155/2014/787404 · Cited by 38 · see citing works
Hu, J., Tepsuporn, S., Meyers, R. M., Gostissa, M., & Alt, F. W. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1410112111 · Cited by 36 · see citing works
Stimpson, K. M., Sullivan, L. L., Kuo, M. E., & Sullivan, B. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0092432 · Cited by 32 · see citing works
NPAS3 Demonstrates Features of a Tumor Suppressive Role in Driving the Progression of Astrocytomas
Moreira, F., Kiehl, T., So, K., Ajeawung, N. F., Honculada, C., Gould, P. V., Pieper, R. O., & Kamnasaran, D. (2011) · American Journal Of Pathology · doi:10.1016/j.ajpath.2011.03.044 · Cited by 31 · see citing works
Stat6 activation and Th2 cell proliferation driven by CD28 signals
Oki, S., Otsuki, N., Kohsaka, T., & Azuma, M. (2000) · European Journal of Immunology · doi:10.1002/(sici)1521-4141(200005)30:5 · Cited by 25 · see citing works
Genetic variants in ultraconserved regions associate with prostate cancer recurrence and survival
Bao, B., Lin, V. C.-H., Yu, C., Yin, H., Chang, T.-Y., Lu, T., Lee, H., Pao, J.-B., Huang, C., & Huang, S. (2016) · Scientific Reports · doi:10.1038/srep22124 · Cited by 23 · see citing works
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
van Belzen, M. J., Hiel, J. A. P., Weemaes, C. M. R., Gabreëls, F. J. M., van Engelen, B. G. M., Smeets, D., & van den Heuvel, L. P. (1998) · Human Genetics · doi:10.1007/s004390050675 · Cited by 19 · see citing works
Lantelme, E., Turinetto, V., Mantovani, S., Marchi, A., Regazzoni, S., Porcedda, P., Marchi, M., & Giachino, C. (2003) · Laboratory Investigation · doi:10.1097/01.lab.0000092228.51605.6a · Cited by 17 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
The landscape of chromothripsis across adult cancer types
Voronina, N., Wong, J., Hübschmann, D., Hlevnjak, M., Uhrig, S., Heilig, C. E., Horak, P., Kreutzfeldt, S., Möck, A., Stenzinger, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16134-7 · Cited by 168 · see citing works
Self-citationChromothripsis in acute myeloid leukemia: biological features and impact on survival
Fontana, M. C., Marconi, G., Feenstra, J. D. M., Fonzi, E., Papayannidis, C., di Rorà, A. G. L., Padella, A., Solli, V., Franchini, E., Ottaviani, E., et al. (2018) · Leukemia · doi:10.1038/s41375-018-0035-y · Cited by 110 · see citing works
Nones, K., Johnson, J., Newell, F., Patch, A. M., Thorne, H., Kazakoff, S. H., de Luca, X. M., Parsons, M. T., Ferguson, K., Reid, L. E., et al. (2019) · Annals of Oncology · doi:10.1093/annonc/mdz132 · Cited by 93 · see citing works
“Chromothripsis and BFB have been reported in numerous tumour types, and intriguingly, germline variants in ATM and TP53 were associated with such complex structural rearrangements in acute lymphoblastic leukaemia [26] and medulloblastoma [27].”
BackgroundChromoanagenesis: cataclysms behind complex chromosomal rearrangements
Pellestor, F. (2019) · Molecular Cytogenetics · doi:10.1186/s13039-019-0415-7 · Cited by 92 · see citing works
Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors
Ratnaparkhe, M., Wong, J., Wei, P., Hlevnjak, M., Kolb, T., Simovic-Lorenz, M., Haag, D., Paul, Y., Devens, F., Northcott, P. A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06925-4 · Cited by 83 · see citing works
Self-citationMutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice
Li, Y. R., Halliwill, K. D., Adams, C., Iyer, V., Riva, L., Mamunur, R., Jen, K., Rosario, R. D., Fredlund, E., Hirst, G. L., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-14261-4 · Cited by 77 · see citing works
Bomken, S. N., ten Bosch, J. V. D. W., Attarbaschi, A., Bacon, C. M., Borkhardt, A., Boztuǧ, K., Fischer, U., Hauck, F. H., Kuiper, R. P., Lammens, T., et al. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02912 · Cited by 77 · see citing works
Self-citationOn the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
Koltsova, A. S., Pendina, A. A., Efimova, O. A., Chiryaeva, O. G., Kuznetzova, T. V., & Баранов, В. С. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00393 · Cited by 70 · see citing works
Mutational game changer: Chromothripsis and its emerging relevance to cancer
Luijten, M., Lee, J. X. T., & Crasta, K. (2018) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2018.06.004 · Cited by 63 · see citing works
Chromothripsis-Mediated Small Cell Lung Carcinoma
Rekhtman, N., Tischfield, S. E., Febres‐Aldana, C. A., Lee, J. J.-K., Chang, J. C., Herzberg, B. O., Selenica, P., Woo, H. J., Vanderbilt, C., Yang, S., et al. (2024) · Cancer Discovery · doi:10.1158/2159-8290.cd-24-0286 · Cited by 55 · see citing works
The balance between mitotic death and mitotic slippage in acute leukemia: a new therapeutic window?
di Rorà, A. G. L., Martinelli, G., & Simonetti, G. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0808-4 · Cited by 50 · see citing works
Altered nuclear envelope structure and proteasome function of micronuclei
Maaß, K. K., Rosing, F., Ronchi, P., Willmund, K. V., Devens, F., Hergt, M., Herrmann, H. O., Lichter, P., & Ernst, A. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.08.029 · Cited by 36 · see citing works
Self-citationWolska‐Kuśnierz, B., Pastorczak, A. K., Fendler, W. M., Wakulińska, A., Dembowska-Baginska, B. M., Heropolitańska–Pliszka, E., Piątosa, B., Pietrucha, B. M., Kałwak, K., Ussowicz, M., et al. (2020) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-2574 · Cited by 36 · see citing works
Self-citationChromothripsis and DNA Repair Disorders
Nazaryan‐Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N., & Tümer, Z. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9030613 · Cited by 33 · see citing works
Chromothripsis—Explosion in Genetic Science
Shorokhova, M., Nikolsky, N. N., & Гринчук, Т. М. (2021) · Cells · doi:10.3390/cells10051102 · Cited by 35 · see citing works
Chromothripsis in Human Breast Cancer
Bolkestein, M., Wong, J., Thewes, V., Körber, V., Hlevnjak, M., Elgaafary, S., Schulze, M., Kommoss, F. K. F., Sinn, H., Anzeneder, T., et al. (2020) · Cancer Research · doi:10.1158/0008-5472.can-20-1920 · Cited by 33 · see citing works
Self-citationInherited Susceptibility to Hematopoietic Malignancies in the Era of Precision Oncology
Roloff, G. W., Drazer, M. W., & Godley, L. A. (2021) · JCO Precision Oncology · doi:10.1200/po.20.00387 · Cited by 32 · see citing works
Genes, Proteins, and Biological Pathways Preventing Chromothripsis
Poot, M. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7780-2_15 · Cited by 31 · see citing works
The Genomic Characteristics and Origin of Chromothripsis
Marcozzi, A., Pellestor, F., & Kloosterman, W. P. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7780-2_1 · Cited by 32 · see citing works
Pastorczak, A. K., Attarbaschi, A., Bomken, S. N., Borkhardt, A., ten Bosch, J. V. D. W., Elitzur, S., Gennery, A. R., Hlaváčková, E. O., Kerekes, A., Křenová, Z., et al. (2022) · Cancers · doi:10.3390/cancers14082000 · Cited by 27 · see citing works
Self-citationBakhtiar, S., Salzmann‐Manrique, E., Donath, H., Woelke, S., Duecker, R. P., Fritzemeyer, S., Schubert, R., Huenecke, S., Kieslich, M., Klingebiel, T. E., et al. (2021) · British Journal of Haematology · doi:10.1111/bjh.17736 · Cited by 28 · see citing works
Self-citationKim, J., Huang, A. Y., Johnson, S. L., Lai, J. F., Isacco, L., Jeffries, A. M., Miller, M. B., Lodato, M. A., Walsh, C. A., & Lee, E. A. (2022) · Nature Communications · doi:10.1038/s41467-022-33642-w · Cited by 25 · see citing works
Valikhani, M., Rahimian, E., Ahmadi, S. E., Chegeni, R., & Safa, M. (2021) · Experimental Hematology and Oncology · doi:10.1186/s40164-021-00242-1 · Cited by 26 · see citing works
Homologous Recombination Deficiency Scar: Mutations and Beyond—Implications for Precision Oncology
van der Wiel, A. M.-M. A., Schuitmaker, L., Cong, Y., Theys, J., van Hoeck, A., Vens, C., Lambin, P., Yaromina, A., & Dubois, L. J. (2022) · Cancers · doi:10.3390/cancers14174157 · Cited by 25 · see citing works
Chromothripsis, DNA repair and checkpoints defects
Simovic-Lorenz, M., & Ernst, A. (2021) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2021.02.001 · Cited by 21 · see citing works
Self-citationFournier, B., Mahlaoui, N., Moshous, D., & de Villartay, J. (2022) · Pediatric Allergy and Immunology · doi:10.1111/pai.13820 · Cited by 21 · see citing works
Arniani, S., Pierini, V., Pellanera, F., Matteucci, C., Giacomo, D. D., Bardelli, V., Quintini, M., Mavridou, E., Fernandez, A. G. L., Nardelli, C., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01671-5 · Cited by 18 · see citing works
Chitosan as possible inhibitory agents and delivery systems in leukemia
Zivarpour, P., Hallajzadeh, J., Asemi, Z., Sadoughi, F., & Sharifi, M. (2021) · Cancer Cell International · doi:10.1186/s12935-021-02243-w · Cited by 18 · see citing works
Gao, J., Chen, Y., Mina, A. A., Altman, J. K., Kim, K. A., Zhang, Y., Lu, X., Jennings, L. J., & SUKHANOVA, M. J. (2020) · Human Pathology · doi:10.1016/j.humpath.2020.02.003 · Cited by 16 · see citing works
Comprehensive Overview of Gene Rearrangements in Childhood T-Cell Acute Lymphoblastic Leukaemia
Mroczek, A., Zawitkowska, J., Kowalczyk, J., & Lejman, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020808 · Cited by 16 · see citing works
Insight into the Molecular Basis Underlying Chromothripsis
Ostapińska, K., Styka, B., & Lejman, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063318 · Cited by 15 · see citing works
ten Bosch, J. V. D. W., Hlaváčková, E. O., Derpoorter, C., Fischer, U., Saettini, F., Ghosh, S., Farah, R. A., Bogaert, D. J. A., Wagener, R., Loeffen, J. L. C., et al. (2022) · Pediatric Hematology and Oncology · doi:10.1080/08880018.2022.2085830 · Cited by 12 · see citing works
Self-citationSmirnov, P., Przybilla, M. J., Simovic-Lorenz, M., Parra, R. G., Sušak, H., Ratnaparkhe, M., Wong, J., Körber, V., Mallm, J., Philippos, G., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54547-w · Cited by 21 · see citing works
Self-citationLejman, M., Włodarczyk, M., Styka, B., Pastorczak, A. K., Zawitkowska, J., Taha, J., Sędek, Ł., Skonieczka, K., Braun, M., Haus, O., et al. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.01184 · Cited by 13 · see citing works
Self-citationChromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
Závacká, K., & Plevová, K. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.771664 · Cited by 12 · see citing works
Testicular large B‐cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL
Rivas‐Delgado, A., López, C., Clot, G., Nadeu, F., Grau, M., Frigola, G., Bosch‐Schips, J., Radke, J., Ishaque, N., Alcoceba, M., et al. (2024) · HemaSphere · doi:10.1002/hem3.70024 · Cited by 11 · see citing works
Self-citationChromoanagenesis in Osteosarcoma
Li, G., Wu, N., Ghabrial, J., Stinnett, V., Klausner, M., Morsberger, L. A., Long, P., Baraban, E. G., Gross, J. M., & Zou, Y. S. (2025) · Biomolecules · doi:10.3390/biom15060833 · Cited by 11 · see citing works
Lin, C.-L., Tan, X., Chen, M., Kusi, M., Hung, C., Chou, C., Hsu, Y., Wang, C., Kirma, N. B., Chen, C., et al. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-0729-7 · Cited by 11 · see citing works
Parra, R., Przybilla, M. J., Simovic-Lorenz, M., Sušak, H., Ratnaparkhe, M., Wong, J. K., Körber, V., Mallm, J., Sill, M., Kolb, T., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.25.449944 · Cited by 11 · see citing works
Self-citationChromothripsis in acute myeloid leukemia: Biological features and impact on survival
Fontana, M. C., Marconi, G., Feenstra, J. D. M., Fonzi, E., Papayannidis, C., di Rorá, A. G. L., Padella, A., Solli, V., Franchini, E., Ottaviani, E., et al. (2017) · Leukemia · doi:10.1038/leu.2017.351 · Cited by 9 · see citing works
Förster, A., Davenport, C., Duployez, N., Erlacher, M., Ferster, A., Fitzgibbon, J., Göhring, G., Hasle, H., Jongmans, M. C. J., Kolenová, A., et al. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2023.104727 · Cited by 8 · see citing works
Self-citationMechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated
Yamauchi, M. (2021) · Genes · doi:10.3390/genes12081232 · Cited by 7 · see citing works
Urbańska, Z., Lejman, M., Taha, J., Madzio, J., Ostrowska, K., Miarka‐Walczyk, K., Wypyszczak, K., Styka, B., Jakubowska, J., Sędek, Ł., et al. (2022) · Neoplasia · doi:10.1016/j.neo.2022.100840 · Cited by 7 · see citing works
Self-citationChromothripsis in hematologic malignancies
Lagunas‐Rangel, F. A. (2024) · Experimental Hematology · doi:10.1016/j.exphem.2024.104172 · Cited by 5 · see citing works
MicroRNA dysregulation in ataxia telangiectasia
Cirillo, E., Tarallo, A., Toriello, E., Carissimo, A., Giardino, G., Rosa, A. D., Damiano, C., Soresina, A., Badolato, R., Dellepiane, R. M., et al. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1444130 · Cited by 5 · see citing works
Iqbal, M. J., Ameen, U., Tanveer, H., Israr, L., Ricci, A., Morganti, G., Khan, M. J., & Menotta, M. (2025) · Molecular Biology Reports · doi:10.1007/s11033-025-11094-x · Cited by 3 · see citing works
Zhang, M., He, D., Zhang, Y. X., Cheng, K., Li, H., Zhou, Y., Long, Q.-X., Liu, R., & Liu, J. (2024) · MedComm · doi:10.1002/mco2.623 · Cited by 3 · see citing works
Pellestor, F., Ganne, B., & Gâtinois, V. (2025) · Methods in molecular biology · doi:10.1007/978-1-0716-4750-9_1 · Cited by 3 · see citing works
Ataxia with Impaired DNA Repair in Adults: A Case Series and Review of the Literature
Нужный, Е. П., Klyushnikov, S. A., Abramycheva, N. Y., Fedotova, E. Y., Andreev, M. N., Vetchinova, A. S., & Illarioshkin, S. N. (2020) · Russian neurological Journal · doi:10.30629/2658-7947-2020-25-2-28-36 · Cited by 1 · see citing works
Zaatra, W., Philippos, G., Smirnov, P., Milo, S., Otoničar, J., Chan, M., Harel, M., Devens, F., Goldberg, T., Eliassaf, A., et al. (2026) · Molecular Cell · doi:10.1016/j.molcel.2026.08.003 · Cited by 2 · see citing works
Self-citationGachard, N., Lafage‐Pochitaloff, M., Quessada, J., Auger, N., & Collonge‐Rame, M. (2023) · Current Research in Translational Medicine · doi:10.1016/j.retram.2023.103416 · Cited by 1 · see citing works
Pastorczak, A. K., Urbańska, Z., Styka, B., Miarka‐Walczyk, K., Sędek, Ł., Wypyszczak, K., Wakulińska, A., Nowicka, Z., Szczepański, T., Stańczak, M., et al. (2024) · Leukemia · doi:10.1038/s41375-024-02370-z · Cited by 1 · see citing works
Self-citationPeculiarities of abnormal karyotypes formation in therapy-related acute leukemias
Andreieva, S. V., Kyselova, O. A., Serbin, I. M., & Alkhimova, O. G. (2020) · Experimental Oncology · doi:10.32471/exp-oncology.2312-8852.vol-42-no-2.14593 · Cited by 1 · see citing works
Caracterização de alterações genômicas caóticas em osteossarcoma
Gomes, A. G. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.17.2019.tde-19022019-110314
Inborn Errors of Immunity caused by defects of the DNA damage response pathwaysPreprint
Fournier, B., Mahlaoui, N., Moshous, D., & de Villartay, J. (2022) · doi:10.22541/au.164672628.83605152/v1
Caracterização de alterações genômicas caóticas em osteossarcoma
Gomes, A. G. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.17.2020.tde-14052020-090705
Lees‐Miller, S. P. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734415163.793553159
Wolska‐Kuśnierz, B., Pastorczak, A. K., Fendler, W. M., Wakulińska, A., Dembowska-Baginska, B., Heropolitańska–Pliszka, E., Piątosa, B., Pietrucha, B. M., Kałwak, K., Ussowicz, M., et al. (2023) · doi:10.1158/1078-0432.c.6530243.v1
Self-citationStrullu, M., Cousin, É., de Montgolfier, S., Fenwarth, L., Gachard, N., Arnoux, I., Duployez, N., Girard, S., Guilmatre, A., Lafage‐Pochitaloff, M., et al. (2024) · Bulletin du Cancer · doi:10.1016/j.bulcan.2023.11.011
Lin, C.-L., Tan, X., Chen, M., Kusi, M., Hung, C., Chou, C., Hsu, Y., Wang, C., Kirma, N. B., Chen, C., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12308207
Modelling Acral Melanoma in Admixed Brazilians Uncovers Genomic Drivers and Targetable PathwaysPreprint
Squiavinato, A. C. M. S., Bernardes, S. S., Aguiar, F. C., Facciolo, A. C., Herrera, M. D. C. V., Wong-Ramirez, J. R. C., Basurto‐Lozada, P., Nobre, A. B., Annamalai, G., do Nascimento, R. M. C., et al. (2025) · medRxiv · doi:10.1101/2025.08.08.25332963
Lin, C.-L., Tan, X., Chen, M., Kusi, M., Hung, C.-N., Chou, C.-W., Hsu, Y.-T., Wang, C.-M., Kirma, N. B., Chen, C.-L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12308198
Incorporating ALL Biology into Treatment Decisions: Next Steps toward Targeted Therapy in Adult ALL
Saygin, C., Witkowski, M. T., Çetin, S., Aldoss, I. T., & Luskin, M. R. (2026) · Blood Cancer Discovery · doi:10.1158/2643-3230.bcd-25-0078
- Authors
- Ratnaparkhe, M., Hlevnjak, M., Kolb, T., Jauch, A., Maass, K. K., Devens, F., Rode, A., Hovestadt, V, Korshunov, A., Pastorczak, A., Mlynarski, W., Sungalee, S., Korbel, J., Hoell, J., Fischer, U., Milde, T., Kramm, C., Nathrath, M., Chrzanowska, K., Tausch, E., Takagi, M., Taga, T., Constantini, S., Loeffen, J., Meijerink, J., Zielen, S., Gohring, G., Schlegelberger, B., Maass, E., Siebert, R., Kunz, J., Kulozik, A. E., Worst, B., Jones, D. T., Pfister, S. M., Zapatka, M., Lichter, P., & Ernst, A.
- Affiliations
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- Medical University of Lodz (PL)
- European Molecular Biology Laboratory (DE)
- Heinrich Heine University Düsseldorf (DE)
- University of Göttingen (DE)
- Klinikum Kassel (DE)
- Universität Ulm (DE)
- Tokyo Medical and Dental University (JP)
- Shiga University of Medical Science (JP)
- Tel Aviv University (IL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Princess Máxima Center (NL)
- Goethe University Frankfurt (DE)
- Medizinische Hochschule Hannover (DE)
- Olgahospital (DE)
- Christian-Albrechts-Universität zu Kiel (DE)
- Corresponding author
- Ernst, A
- ORCID
- Hlevnjak, M
- Kolb, T
- Jauch, A
- Maass, K K
- Hovestadt, V
- Korshunov, A
- Pastorczak, A
- Mlynarski, W
- Sungalee, S
- Korbel, J
- Hoell, J
- Fischer, U
- Milde, T
- Kramm, C
- Nathrath, M
- Tausch, E
- Takagi, M
- Taga, T
- Constantini, S
- Loeffen, J
- Meijerink, J
- Zielen, S
- Schlegelberger, B
- Siebert, R
- Kunz, J
- Kulozik, A E
- Jones, D T
- Pfister, S M
- Zapatka, M
- Lichter, P
- Ernst, A
- Venue
- Leukemia
- Published
- 2017-02-15
- Volume
- 31
- Issue
- 10
- Pages
- 2048-2056
- ISSN
- 0887-6924 (ISSN-L)
- 1476-5551
- OpenAlex
- W2588907340
- Cited by
- 63
- References
- 37
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 8 · 2023: 3 · 2022: 10 · 2021: 10 · 2020: 12 · 2019: 5 · 2018: 8 · 2017: 1
- FWCI
- 6.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Leukemia (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Acute Lymphoblastic Leukemia research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- acute lymphoblastic leukemia, ataxia telangiectasia, chromothripsis, ATM mutations, genomic instability, DNA double-strand break repair, DNA damage response, short telomeres, acrocentric chromosomes, tumor genomic landscape
- MeSH terms
- Chromothripsis, Adolescent, Ataxia Telangiectasia, Child, Child, Preschool, Chromosomes, Human, DNA Repair, DNA, Neoplasm, Female, Humans, Male, Mutation, Neoplasm Proteins, Neoplasms, RNA, Neoplasm, Genome, Human, In Situ Hybridization, Fluorescence, Sequence Analysis, DNA, Sequence Analysis, RNA, Genomic Instability, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Transcriptome, Telomere Shortening, Ataxia Telangiectasia Mutated Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
