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The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Open accessAbstract
Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukaemia cases. ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300). We also identified new targets of recurrent mutation including DNM2, ECT2L and RELN. The mutational spectrum is similar to myeloid tumours, and moreover, the global transcriptional profile of ETP ALL was similar to that of normal and myeloid leukaemia haematopoietic stem cells. These findings suggest that addition of myeloid-directed therapies might improve the poor outcome of ETP ALL. This work shows that treatments used for acute myeloid leukaemia and targeted therapies could be used for early T-cell precursor acute lymphoblastic leukaemia. The early T-cell precursor (ETP) subtype of childhood acute lymphoblastic leukaemia (ALL) has a poor prognosis when treated with standard chemotherapy. Whole genome sequencing is used here to gain insights into the genetic basis of the condition. The results reveal a high frequency of activating mutations in genes regulating cytokine receptor and Ras signalling, lesions that disrupt haemopoiesis (many of which arise from chromosomal rearrangements that generate novel chimeric in-frame fusion genes), and inactivating mutations in histone modifying genes. This mutation pattern resembles that of myeloid malignancies, suggesting that myeloid-directed therapies such as high-dose cytarabine, or targeted therapies that inhibit cytokine receptor and JAK signalling, might be effective in ETP ALL.
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“High frequency of mutations in EZH2, EED, and SUZ12 are observed in patients with early T cell precursor ALL (ETP-ALL) [154, 155].”
From Proteolysis targeting chimeras (PROTACs) are emerging therapeutics for hematologic malignancies (2020) · cites this paper as [155]
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Self-citationEarly T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia
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“ETPALL is genetically heterogeneous,withmutation ofmultiple cellular pathways including (1) hematopoietic and lymphoid development (RUNX1, IKZF1, ETV6, GATA3, and EP300); (2) Ras, cytokine receptor, and kinase signaling (NRAS, IL7R, KRAS, JAK1, JAK3, NF1, PTPN11, and SH2B3); and (3) loss-of-function mutations targetin…”
BackgroundInfluentialSelf-citationTargeting Oxidative Stress in Embryonal Rhabdomyosarcoma
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“35,41 The most common rearrangements observed in B-lineage ALL are the t(12;21) (p13;q22) rearrange ment resulting in expression of the ETV6– RUNX1 fusion (TEL–AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT–PBX1 fusion (E2A– PBX); the t…”
BackgroundSelf-citationTargeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia
Maude, S. L., Tasian, S. K., Vincent, T. L., Hall, J., Sheen, C., Roberts, K. G., Seif, A. E., Barrett, D. M., Chen, I., Collins, J. R., et al. (2012) · Blood · doi:10.1182/blood-2012-03-415448 · Cited by 293
Self-citationMethyltransferase SETD2-Mediated Methylation of STAT1 Is Critical for Interferon Antiviral Activity
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“In addition, mutations in SETD2 are associated with progression of several cancers, such as acute lymphoblastic leukemia and clear cell renal cell carcinoma (ccRCC) (Dalgliesh et al., 2010; Zhang et al., 2012; Zhu et al., 2014).”
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“CNVs were identified by evaluating the difference of read depth for each tumor and its matching normal using the - algorithm CONSERTING (COpy Number SEgmentation by Regression Tree In Next-Gen sequencing (Zhang et al., 2012).”
MethodInfluentialSelf-citationGlobal chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia
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“In recent genome sequencing studies rare mutations in ASXL1 and ASXL3 have also been found in chronic lymphocytic leukemia [43] but not in T-cell acute leukemia [44].”
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“mRNA Expression Published mRNA data on BCL-2 expression in human thymocytes (37) and of ETP-ALL versus typical T-ALL (38) were also assessed and represented as a heat map using GenePattern.”
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BackgroundDual Chromatin and Cytoskeletal Remodeling by SETD2
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Self-citationSherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS
He, X., Fuller, C. K., Song, Y., Meng, Q., Zhang, B., Yang, X., & Li, H. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.022 · Cited by 241
“Interestingly, one of the two SNPs, rs10248053, is located inside RELN (MIM 600514), which is associated with the age of onset of multiple sclerosis (MIM 126200), an autoimmune disease,(42) and may also be involved in a subtype of T cell leukemia.(43)”
BackgroundSETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint
Carvalho, S., Vítor, A. C., Sridhara, S. R. C., Martins, F. B., Raposo, A. C., Desterro, J. M. P., Ferreira, J. A., & de Almeida, S. F. (2014) · eLife · doi:10.7554/elife.02482 · Cited by 282
A key role for EZH2 and associated genes in mouse and human adult T-cell acute leukemia
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“…T-ALL, whether in the adult population (mutations: DNMT3A and JARID2; expression changes: EZH2 and KDM6B) (this study) or the childhood population (EZH2, EED, and SUZ12) (Zhang et al. 2012), argues for a more generalized deregulation of this Polycomb protein complex and associated genes in T-ALL.”
BackgroundResultInfluentialSt. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem
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Self-citationThe NOTCH1-MYC highway toward T-cell acute lymphoblastic leukemia
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Self-citationIntegrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia
Kiel, M. J., Velusamy, T., Rolland, D. C. M., Sahasrabuddhe, A. A., Chung, F., Bailey, N. G., Schrader, A., Li, B., Li, J. Z., Ozel, A. B., et al. (2014) · Blood · doi:10.1182/blood-2014-03-559542 · Cited by 256
CXCL12-Producing Vascular Endothelial Niches Control Acute T Cell Leukemia Maintenance
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“Indeed, we have observed high surface CXCR4 on all T-ALL subtypes, including early T precursor (ETP-ALL), a more immature and high-risk disease subtype (Treanor et al., 2014; Zhang et al., 2012).”
BackgroundResultTET proteins and the control of cytosine demethylation in cancer
Scourzic, L., Mouly, E., & Bernard, O. (2015) · Genome Medicine · doi:10.1186/s13073-015-0134-6 · Cited by 263
“Endometrium 9* 7* 4* Breast Rare [106] Rare [115] Rare* Central nervous system Rare [193] Rare* Rare* Kidney Rare* Rare [113] Rare* Large intestine 7 [105,137] 4 [105,137] 5 [105,137] Liver Rare [194] Rare* Rare [195] Lung 5 [106,114,138] 2 [115,138,139] Rare [138,139] Ovary Rare* Rare* Rare [112] Pancreas Rare [196,1…”
InfluentialThe emerging role of GATA transcription factors in development and disease
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Identification of functional cooperative mutations of SETD2 in human acute leukemia
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Self-citationIdentification of Molecular Pathway Aberrations in Uterine Serous Carcinoma by Genome-wide Analyses
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“Specifically, the analysis was run using three different parameters as previously described (13,14): a) a high-quality threshold (minimum quality score set to 20) for pooled tumor and matching normal tissue BAm files; b) a low-quality threshold (minimum quality score set to 10) for pooled tumor and matching normal tis…”
MethodSelf-citationMolecular genetics of B-precursor acute lymphoblastic leukemia
Mullighan, C. G. (2012) · Journal of Clinical Investigation · doi:10.1172/jci61203 · Cited by 247
Self-citationTrinquand, A., Schmidt, A., Abdelali, R. B., Lambert, J., Beldjord, K., Lengliné, É., de Gunzburg, N., Payet‐Bornet, D., Lhermitte, L., Mossafa, H., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.48.5292 · Cited by 247
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“In hematopoietic malignancies, TP53 mutations are less frequent (10%–15%) but are among the 10 most frequent SMGs in five of six documented malignancies (the exception is pediatric acute lymphoblastic leukemia [Zhang et al. 2012]).”
BackgroundPRC2 mediated H3K27 methylations in cellular identity and cancer
Conway, E., Healy, E., & Bracken, A. P. (2015) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2015.10.003 · Cited by 250
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Self-citationImpaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas
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Acute Lymphoblastic Leukemia, Version 2.2015
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Self-citationPopovic, R., Martínez-García, E., Γιαννοπούλου, Ε., Zhang, Q., Zhang, Q., Ezponda, T., Shah, M. Y., Zheng, Y., Will, C., Small, E. C., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004566 · Cited by 250
“The sequencing of the coding regions and genomes of a variety of human tumors showed that mutations in the epigenetic apparatus are among the most common class of alterations in cancer [47,49,64], further stimulating interest in epigenetically targeted therapies [1].”
BackgroundSelf-citationAdvances in the Diagnosis and Treatment of Pediatric Acute Lymphoblastic Leukemia
Inaba, H., & Pui, C. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10091926 · Cited by 268
“The genetic features of this subtype are similar to those of hematopoietic stem cells; it is characterized by alterations in transcriptional regulators, epigenetic regulation, and JAKSTAT and Ras pathway genes [86,91].”
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“…on regimen C. Previous studies of ETP-ALL have suggested that the genetic landscape of this subtype is atypical of T-ALL and, like the immunophenotype profile, shows some overlap with myeloid leukaemias (Coustan-Smith et al, 2009; Meijerink, 2010; Zhang et al, 2012; Van Vlierberghe et al, 2013).”
BackgroundJakinibs: a new class of kinase inhibitors in cancer and autoimmune disease
Kontzias, A., Kotlyar, A. M., Laurence, A. D. J., Changelian, P. S., & O’Shea, J. J. (2012) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2012.06.008 · Cited by 237
“Various types of mutations and fusion proteins affecting JAKs have been noted in a range of different leukemias [54,55 ,56,57].”
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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms
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“Further information on experimental design and reagents is available in the Life Sciences Reporting Summary linked to this article.”
Preclinical efficacy of daratumumab in T-cell acute lymphoblastic leukemia
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“This panel included 10 patients with early T cell precursor (ETP) ALL, a subtype characterized by a distinct immunophenotype, poor initial response to chemotherapy, and inferior outcome.(9,11-14) We observed robust CD38 expression at baseline in 21 of 21 patients tested (11 non-ETP T-ALL and 10 ETP T-ALL) (Figure 1A).”
BackgroundSelf-citationPolycomb repressive complex 2 is required for MLL-AF9 leukemia
Neff, T., Sinha, A. U., Kluk, M., Zhu, N., Khattab, M. H., Stein, L., Xie, H., Orkin, S. H., & Armstrong, S. A. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1202258109 · Cited by 234
How I treat T-cell acute lymphoblastic leukemia in adults
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“15 Of note, the genetics of ETP ALL are closely related to that of myeloid leukemias with a low frequency of NOTCH-activating mutations and deletions in the CDKN2A/B loci, otherwise present in 70% of T-ALLs, and a higher prevalence ofmutations activating cytokine receptor and RAS signaling, including N-RAS, K-RAS, FLT…”
BackgroundMaude, S. L., Dolai, S., Delgado-Martín, C., Vincent, T. L., Robbins, A. K., Selvanathan, A., Ryan, T. M., Hall, J., Wood, A., Tasian, S. K., et al. (2015) · Blood · doi:10.1182/blood-2014-06-580480 · Cited by 227
“DysregulationofBcl-2 family proteins is one of the most common causes of corticosteroid resistance in ALL.27,28 Accordingly, we hypothesized that Bcl-2 family proteins may be upregulated in ETP-ALL.”
BackgroundMethodInfluentialSelf-citationThe genomic landscape of pediatric cancers: Implications for diagnosis and treatment
Sweet-Cordero, A., & Biegel, J. A. (2019) · Science · doi:10.1126/science.aaw3535 · Cited by 238
The regulation of JAKs in cytokine signaling and its breakdown in disease
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Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia
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“E u r op e P M C F und e r s A u t ho r M a nu s c r i p t s E u r op e P M C F und e r s A u t ho r M a nu s c r i p t s 24,26,30 .”
Self-citationThe molecular genetic makeup of acute lymphoblastic leukemia
Mullighan, C. G. (2012) · Hematology · doi:10.1182/asheducation.v2012.1.389.3798360 · Cited by 221
Self-citationSakaguchi, H., Okuno, Y., Muramatsu, H., Yoshida, K., Shiraishi, Y., Takahashi, M., Kon, A., Sanada, M., Chiba, K., Tanaka, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2698 · Cited by 227
Epigenetic control of adult stem cell function
Avgustinova, A., & Benitah, S. A. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.76 · Cited by 222
Chromatin signatures of cancerPreprint
Morgan, M. A., & Shilatifard, A. (2015) · Genes & Development · doi:10.1101/gad.255182.114 · Cited by 218
“A recent study explored whether disruption of UTX and JMJD3 activity might provide a therapeutic benefit for T-ALL by increasing H3K27me3 levels (Ntziachristos et al. 2014).”
BackgroundInfluentialWhole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations
Neumann, M., Heesch, S., Schlee, C., Schwartz, S., Gökbuget, N., Hoelzer, D. F., Konstandin, N. P., Ksienzyk, B., Vosberg, S., Graf, A., et al. (2013) · Blood · doi:10.1182/blood-2012-11-465138 · Cited by 221
“Because of the myeloid features of ETP-ALL, it was proposed that these patients might benefit from therapies used in myeloid malignancies, including high-dose cytarabine or epigenetic modulators.3 Although in pediatric ETP-ALL whole-genome sequencing has revealed a highly heterogeneous picture of genetic alterations,4…”
BackgroundInfluentialDIAGNOSIS AND SUBCLASSIFICATION OF ACUTE LYMPHOBLASTIC LEUKEMIA
Chiaretti, S., Zini, G., & Bassan, R. (2014) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2014.073 · Cited by 218
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Self-citationGenomic landscape of paediatric adrenocortical tumours
Pinto, E. M., Chen, X. '., Easton, J. B., Finkelstein, D., Liu, Z., Pounds, S. B., Galindo, C. R., Lund, T. C., Mardis, E. R., Wilson, R. K., et al. (2015) · Nature Communications · doi:10.1038/ncomms7302 · Cited by 212
Self-citationYatim, A., Benne, C., Sobhian, B., Laurent‐Chabalier, S., Déas, O., Judde, J., Lelièvre, J., Lévy, Y., & Benkirane, M. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.08.022 · Cited by 207
Targeting oncogenic Ras signaling in hematologic malignancies
Ward, A. F., Braun, B. S., & Shannon, K. (2012) · Blood · doi:10.1182/blood-2012-05-378596 · Cited by 210
Microsatellite instability: an update
Yamamoto, H., & Imai, K. (2015) · Archives of Toxicology · doi:10.1007/s00204-015-1474-0 · Cited by 247
“Recent exome-sequencing studies also identified SETD2 mutations that are responsible for MMR defects in cancer cells without detectable mutations in MMR genes (Zhang et al. 2012).”
Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia
Churchman, M. L., Low, J. A., Qu, C., Paietta, E. M., Kasper, L. H., Chang, Y., Payne-Turner, D., Althoff, M. J., Song, G., Chen, S.-C., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.07.016 · Cited by 203
“Knock down of Ikzf3 (AIOLOS), an IKAROS family member that with IKZF1 is part of the Mi-2/nucleosome remodeling and deacetylase (NuRD) complex (Zhang et al., 2012b), resulted in similar cellular aggregation (Figure S2B, XIV).”
BackgroundSelf-citationMar, B. G., Bullinger, L., McLean, K. M., Grauman, P. V., Harris, M. H., Stevenson, K. E., Neuberg, D. S., Sinha, A. U., Sallan, S. E., Silverman, L. B., et al. (2014) · Nature Communications · doi:10.1038/ncomms4469 · Cited by 198
der Meulen, J. V., Sanghvi, V. R., Mavrakis, K. J., Durinck, K., Fang, F., Matthijssens, F., Rondou, P., Rosen, M., Pieters, T., Vandenberghe, P., et al. (2014) · Blood · doi:10.1182/blood-2014-05-577270 · Cited by 203
“Furthermore,we identifiedUTX as anX-linked tumor suppressor gene and showed that Utx can act as a bona fide tumor suppressor in T-ALL.”
InfluentialOshima, K., Khiabanian, H., da Silva-Almeida, A. C., Tzoneva, G., Abate, F., Ambesi‐Impiombato, A., Sánchez-Martín, M., Carpenter, Z., Penson, A., Pérez-García, A., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1608420113 · Cited by 196
Self-citationDangerous liaisons: interplay between SWI/SNF, NuRD, and Polycomb in chromatin regulation and cancerPreprint
Bracken, A. P., Brien, G. L., & Verrijzer, C. P. (2019) · Genes & Development · doi:10.1101/gad.326066.119 · Cited by 203
“For example, in pediatric T-cell acute lymphoblastic leukemias (T-ALLs) and malignant peripheral nerve sheath tumors (MPNSTs) the EZH2, EED, and SUZ12 genes are subject to deletions or inactivating mutations (Ntziachristos et al. 2012; Zhang et al. 2012; Lee et al. 2014).”
BackgroundThe genomic landscape of schwannoma
Agnihotri, S., Jalali, S., Wilson, M. R., Danesh, A., Li, M., Klironomos, G., Krieger, J. R., Mansouri, A., Khan, O. H., Mamatjan, Y., et al. (2016) · Nature Genetics · doi:10.1038/ng.3688 · Cited by 196
DNMT3A in LeukemiaPreprint
Brunetti, L., Gundry, M. C., & Goodell, M. A. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a030320 · Cited by 204
“Adult early T-cell precursor ALL (ETPALL), a subset of T-ALL thought to arise from early thymocyte precursors that retain myeloid differentiating potential (Zhang et al. 2012), is particularly enriched for mutations in DNMT3A (Neumann et al.”
BackgroundThe NF1 gene revisited - from bench to bedside
Yap, Y. S., McPherson, J. R., Ong, C. K., Rozen, S., Teh, B. T., Lee, A. S. G., & Callen, D. F. (2014) · Oncotarget · doi:10.18632/oncotarget.2194 · Cited by 189
“The frequency of NF1 mutations in sporadic acute lymphoid leukemia (ALL) was recently reported as 3-8% [131, 132].”
BackgroundPng, Y. T., Vinanica, N., Kamiya, T., Shimasaki, N., Coustan‐Smith, E., & Campana, D. (2017) · Blood Advances · doi:10.1182/bloodadvances.2017009928 · Cited by 192
Self-citationTargeting histone lysine methylation in cancer
McGrath, J. P., & Trojer, P. (2015) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2015.01.002 · Cited by 190
Roberti, A., Dobay, M. P., Bisig, B., Vallois, D., Boéchat, C., Lanitis, E., Bouchindhomme, B., Parrens, M., Bossard, C., Quintanilla‐Martínez, L., et al. (2016) · Nature Communications · doi:10.1038/ncomms12602 · Cited by 189
Driver mutations of cancer epigenomes
Roy, D. M., Walsh, L. A., & Chan, T. A.-T. (2014) · Protein & Cell · doi:10.1007/s13238-014-0031-6 · Cited by 188
“1%), T-ALL, and AML (Abdel-Wahab et al., 2011; Bodor et al., 2011; Capello et al., 2011; Ernst et al., 2010; Grossmann et al., 2011; Lohr et al., 2012; Makishima et al., 2010; Morin et al., 2010; Nikoloski et al., 2010; Ryan et al., 2011; Zhang et al., 2012).”
InfluentialYu, S., Zhou, X., Steinke, F. C., Liu, C., Chen, S.-C., Zagorodna, O., Jing, X., Yokota, Y., Meyerholz, D. K., Mullighan, C. G., et al. (2012) · Immunity · doi:10.1016/j.immuni.2012.08.009 · Cited by 185
“In different sets of experiments, 12 of 19 ETP-ALL samples were analyzed with whole-genome sequencing, but no mutations were found in the TCF7 locus (Zhang et al., 2012).”
BackgroundMethodSelf-citationPagliaro, L., Chen, S., Herranz, D., Mecucci, C., Harrison, C. J., Mullighan, C. G., Zhang, M., Zhu, C. H., Boissel, N., Winter, S. S., et al. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00525-x · Cited by 202
“188), EED 188 and EZH2 (ref.”
Self-citationMYC—Master Regulator of the Cancer Epigenome and Transcriptome
Poole, C. J., & van Riggelen, J. (2017) · Genes · doi:10.3390/genes8050142 · Cited by 180
“Loss-of-function mutations in EZH2, EED, and SUZ12 have been reported for T-cell acute lymphoblastic leukemia (T-ALL) and MDS [99,100], suggesting a role as tumor suppressors in specific hematological malignancies.”
BackgroundInfluentialMolecular pathogenesis of chronic lymphocytic leukemia
Gaïdano, G., Foà, R., & Dalla‐Favera, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64101 · Cited by 188
“Among hematologic malignancies, the complexity of the CLL genome is also on the lower side, markedly smaller than DLBCL and multiple myeloma, and comparable to some acute leukemias (55–58).”
Enhancer Hijacking Drives Oncogenic BCL11B Expression in Lineage-Ambiguous Stem Cell Leukemia
Montefiori, L. E., Bendig, S., Gu, Z., Chen, X., Pölönen, P., Ma, X., Murison, A., Zeng, A. G. X., García‐Prat, L., Dickerson, K. M., et al. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0145 · Cited by 189
Self-citationNegative feedback–defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL
Li, B., Li, H., Bai, Y., Kirschner‐Schwabe, R., Yang, J. J. J., Chen, Y., Lü, G., Tzoneva, G., Ma, X., Wu, T., et al. (2015) · Nature Medicine · doi:10.1038/nm.3840 · Cited by 175
Self-citationLoss of Asxl1 leads to myelodysplastic syndrome–like disease in mice
Wang, J., Li, Z., He, Y., Pan, F., Shi, C., Rhodes, S. D., Nguyen, L., Yuan, J., Jiang, L., Yang, X., et al. (2013) · Blood · doi:10.1182/blood-2013-05-500272 · Cited by 178
“Recent genome sequencing studies revealed low frequencies of ASXL1 mutations in B-chronic lymphocytic leukemia,(31) but not in T-cell–acute leukemia.(32) Althoughwe did not observe lymphoidmalignancies in the cohort of Asxl1 and Asxl1 mice, deletion/haploinsufficiency of Asxl1 did cause impaired B-cell development, co…”
ResultSelf-citationCarvalho, S., Raposo, A. C., Martins, F. B., Grosso, A. R., Sridhara, S. R. C., Rino, J., Carmo‐Fonseca, M., & de Almeida, S. F. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1472 · Cited by 180
How Ribosomes Translate Cancer
Sulima, S. O., Hofman, I. J., Keersmaecker, K. D., & Dinman, J. D. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0550 · Cited by 185
“For example, pediatric T-ALL contains ribosomal mutations in 15% to 20% of cases, but is characterized by a very low load of copy-number changes and somatic point mutations (8, 106, 107).”
BackgroundAF10 Regulates Progressive H3K79 Methylation and HOX Gene Expression in Diverse AML Subtypes
Deshpande, A., Deshpande, A., Sinha, A., Chen, L., Chang, J., Cihan, A., Fazio, M., Chen, C., Zhu, N., Koche, R., et al. (2014) · Cancer Cell · doi:10.1016/j.ccell.2014.10.009 · Cited by 172
“Despite the fact that AF10 is involved in recurrent chromosomal translocations that fuse it to one of at least five different fusion partners apart fromMLL in human leukemia (Brandimarte et al., 2013; Dreyling et al., 1996; Soler et al., 2013; Zhang et al., 2012), there have been few studies aimed at understanding the…”
BackgroundHow I treat mixed-phenotype acute leukemia
Wolach, O., & Stone, R. M. (2015) · Blood · doi:10.1182/blood-2014-10-551465 · Cited by 173
Disorders of the JAK/STAT Pathway in T Cell Lymphoma Pathogenesis: Implications for Immunotherapy
Waldmann, T. A., & Chen, J. (2017) · Annual Review of Immunology · doi:10.1146/annurev-immunol-110416-120628 · Cited by 173
“Activating mutations of JAK1 and/or JAK3 were identified in a major proportion both among ALK-negative ALCL patients and among PLL patients and were found in a minority of patients with ATLL as well as among those with ETP-ALL and in those with Sézary syndrome (16, 25, 30, 34).”
BackgroundInfluentialRokita, J. L., Rathi, K. S., Cardenas, M., Upton, K. A., Jayaseelan, J. C., Cross, K. L., Pfeil, J., Egolf, L. E., Way, G. P., Farrel, A., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.09.071 · Cited by 185
“…hallmark alterations in key pediatric tumor driver genes (Behjati et al., 2017; Eleveld et al., 2015; Gröbner et al., 2018; Liu et al., 2017; Ma et al., 2018; Pugh et al., 2013; Shern et al., 2014; Zhang et al., 2012) in Figure 2 and demonstrate faithful disease recapitulation across PDX models.”
The Epigenetic Hallmarks of Cancer
Esteller, M., Dawson, M. A., Kadoch, C., Rassool, F. V., Jones, P. A., & Baylin, S. B. (2024) · Cancer Discovery · doi:10.1158/2159-8290.cd-24-0296 · Cited by 202
Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations
Brady, S. W., Liu, Y., Ma, X., Gout, A. M., Hagiwara, K., Zhou, X., Wang, J., Macias, M., Chen, X., Easton, J. B., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18987-4 · Cited by 170
Self-citationChildren's Oncology Group's 2013 blueprint for research: acute lymphoblastic leukemia
Hunger, S. P., Loh, M. L., Whitlock, J. A., Winick, N. J., Carroll, W. L., Devidas, M., & Raetz, E. A. (2012) · Pediatric Blood & Cancer · doi:10.1002/pbc.24420 · Cited by 169
Self-citationVadillo, E., Dorantes-Acosta, E. M., Pelayo, R., & Schnoor, M. (2017) · Blood Reviews · doi:10.1016/j.blre.2017.08.006 · Cited by 171
Knight, T., & Irving, J. A. E. (2014) · Frontiers in Oncology · doi:10.3389/fonc.2014.00160 · Cited by 164
“In early thymocyte precursor (ETP) ALL, focal amplification of BRAF was found in one patient, thus amplification of BRAF rather than mutation may be an alternative mechanism of activation (25).”
BackgroundThe genomic basis of childhood T-lineage acute lymphoblastic leukaemia
Pölönen, P., Di Giacomo, D., Seffernick, A. E., Elsayed, A., Kimura, S., Benini, F., Montefiori, L. E., Wood, B. L., Xu, J., Chen, C., et al. (2024) · Nature · doi:10.1038/s41586-024-07807-0 · Cited by 173
Self-citationBond, J., Graux, C., Lhermitte, L., Lara, D., Cluzeau, T., Leguay, T., Cieślak, A., Trinquand, A., Pastoret, C., Belhocine, M., et al. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2016.71.8585 · Cited by 168
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Epigenetics of hematopoiesis and hematological malignanciesPreprint
Hu, D., & Shilatifard, A. (2016) · Genes & Development · doi:10.1101/gad.284109.116 · Cited by 175
“Besides EZH2 inactivating mutations, loss-of-function mutations of the PRC2 core components SUZ12 and EED have also been detected in T-ALL, all of which lead to lower levels of H3K27me3 (Ntziachristos et al. 2012; Simon et al. 2012).”
BackgroundInfluentialManagement of adults with T-cell lymphoblastic leukemia
Marks, D. I., & Rowntree, C. J. (2017) · Blood · doi:10.1182/blood-2016-07-692608 · Cited by 167
“ETP cells derive from a subset of immature thymocytes that retain the ability to differentiate into both T-cell and myeloid lineages, suggestingdirect derivation fromhematopoietic stem cells.(11) ETP-ALL blasts are CD8(2) and CD1a(2), CD5, and express one ormoremyeloid or stem cellmarker.”
BackgroundA histone H3K36 chromatin switch coordinates DNA double-strand break repair pathway choice
Pai, C., Deegan, R. S., Subramanian, L., Gal, C., Sarkar, S., Blaikley, E., Walker, C. A., Hulme, L., Bernhard, E. J., Codlin, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5091 · Cited by 176
Cyclin C is a haploinsufficient tumour suppressor
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Self-citationBouchekioua, A., Scourzic, L., Wever, O. D., Zhang, Y., Cervera, P., Aline-Fardin, A., Mercher, T., Gaulard, P., Nyga, R., Jeziorowska, D., et al. (2013) · Leukemia · doi:10.1038/leu.2013.157 · Cited by 161
Metadata
- Authors
- Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., Lu, C., Chen, S.-C., Wei, L., Collins-Underwood, J. R., Ma, J., Roberts, K. G., Pounds, S. B., Ulyanov, A., Becksfort, J., Gupta, P., Huether, R., Kriwacki, R. W., Parker, M., McGoldrick, D. J., Zhao, D., Alford, D., Espy, S., Bobba, K. C., Song, G., Pei, D., Cheng, C., Roberts, S., Barbato, M. I., Campana, D., Coustan-Smith, E., Shurtleff, S. A., Raimondi, S. C., Kleppe, M., Cools, J., Shimano, K. A., Hermiston, M. L., Doulatov, S., Eppert, K., Laurenti, E., Notta, F., Dick, J. E., Basso, G., Hunger, S. P., Loh, M. L., Devidas, M., Wood, B., Winter, S., Dunsmore, K. P., Fulton, R. S., Fulton, L. L., Hong, X., Harris, C. C., Dooling, D. J., Ochoa, K., Johnson, K. J., Obenauer, J. C., Evans, W. E., Pui, C.-H., Naeve, C. W., Ley, T. J., Mardis, E. R., Wilson, R. K., Downing, J. R., & Mullighan, C. G.
- Affiliations
- St. Jude Children's Research Hospital (US)
- Washington University in St. Louis (US)
- KU Leuven (BE)
- University of California, San Francisco (US)
- University Health Network (CA)
- University of Padua (IT)
- Children's Hospital Colorado (US)
- University of Florida Health (US)
- Seattle Children's Hospital (US)
- University of New Mexico (US)
- Corresponding author
- Downing, James R.
- Mullighan, Charles G.
- ORCID
- Zhang, Jinghui
- Ding, Li
- Holmfeldt, Linda
- Wu, Gang
- Payne-Turner, Debbie
- Easton, John
- Chen, Xiang
- Wang, Jianmin
- Rusch, Michael
- Lu, Charles
- Chen, Shann-Ching
- Wei, Lei
- Ma, Jing
- Roberts, Kathryn G.
- Pounds, Stanley B.
- Ulyanov, Anatoly
- Becksfort, Jared
- Gupta, Pankaj
- Huether, Robert
- Kriwacki, Richard W.
- Parker, Matthew
- Zhao, David
- Espy, Stephen
- Song, Guangchun
- Cheng, Cheng
- Barbato, Michael I.
- Campana, Dario
- Raimondi, Susana C.
- Cools, Jan
- Shimano, Kristin A.
- Hermiston, Michelle L.
- Doulatov, Sergei
- Eppert, Kolja
- Laurenti, Elisa
- Notta, Faiyaz
- Dick, John E.
- Basso, Giuseppe
- Hunger, Stephen P.
- Loh, Mignon L.
- Devidas, Meenakshi
- Wood, Brent
- Winter, Stuart
- Fulton, Robert S.
- Fulton, Lucinda L.
- Johnson, Kimberly J.
- Obenauer, John C.
- Evans, William E.
- Pui, Ching-Hon
- Ley, Timothy J.
- Mardis, Elaine R.
- Wilson, Richard K.
- Downing, James R.
- Mullighan, Charles G.
- Venue
- Nature
- Published
- 2012-01
- Volume
- 481
- Issue
- 7380
- Pages
- 157-163
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3267575
- OpenAlex
- W2060605982
- Cited by
- 1,596
- References
- 45
- Citations by year
- 2026: 28 · 2025: 61 · 2024: 85 · 2023: 72 · 2022: 98 · 2021: 131 · 2020: 106 · 2019: 123 · 2018: 100 · 2017: 119 · 2016: 138 · 2015: 122 · 2014: 156 · 2013: 162 · 2012: 90
- FWCI
- 164.44
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Padua Research Archive (University of Padova) (submittedVersion, cc-by-nc-sa)
- RePEc: Research Papers in Economics (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- Alex's Lemonade Stand Foundation for Childhood Cancer
- Washington University in St. Louis
- American Lebanese Syrian Associated Charities (CA021765)
- Alvin J. Siteman Cancer Center
- Children’s Oncology Group
- National Institutes of Health (CA 021765, CA98543)
- National Human Genome Research Institute (U54HG003079, HG003079, NHGRI U54 HG003079)
- National Cancer Institute (CA114766, CA‐98413, U10CA098413, U24CA114766, CA021765, U10CA098543, CA-98543, R25CA023944, T32CA128583, P30CA021765)
- National Institute of General Medical Sciences (U01GM92666, U01GM092666)
- Topics
- Health Sciences › Medicine › Hematology › Acute Lymphoblastic Leukemia research
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Lymphoma Diagnosis and Treatment
- Keywords
- somatic mutations, Ras signaling, cytokine receptor signalling, chromosomal rearrangements, mutation spectrum, high-dose cytarabine, gene expression profiling, hematopoietic stem cells, pediatric leukemia
- MeSH terms
- Reelin Protein, Child, Hematopoiesis, Histones, Humans, Molecular Sequence Data, Mutation, Genes, ras, Stem Cells, T-Lymphocytes, Translocation, Genetic, Signal Transduction, Leukemia, Myeloid, Acute, Genome, Human, Sequence Analysis, DNA, Age of Onset, Genetic Predisposition to Disease, Receptors, Interleukin-7, Genomics, Janus Kinases, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, DNA Copy Number Variations
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