The molecular basis and clinical significance of genetic mutations identified in myelodysplastic syndromes
Tài liệu tham khảo
Brunning, 2008, 88
Bejar, 2011, Unraveling the molecular pathophysiology of myelodysplastic syndromes, J Clin Oncol, 29, 504, 10.1200/JCO.2010.31.1175
Bejar, 2011, Clinical effect of point mutations in myelodysplastic syndromes, N Engl J Med, 30, 2496, 10.1056/NEJMoa1013343
Bejar, 2013, Prognostic models in myelodysplastic syndromes, Hematology Am Soc Hematol Educ Program, 2013, 504, 10.1182/asheducation-2013.1.504
Marshall, 2013, Standardizing the initial evaluation for myelodysplastic syndromes, Curr Hematol Malig Rep, 8, 361, 10.1007/s11899-013-0180-3
Cazzola, 2013, The genetic basis of myelodysplasia and its clinical relevance, Blood, 122, 4021, 10.1182/blood-2013-09-381665
Haferlach, 2014, Landscape of genetic lesions in 944 patients with myelodysplastic syndromes, Leukemia, 28, 241, 10.1038/leu.2013.336
Papaemmanuil, 2013, Clinical and biological implications of driver mutations in myelodysplastic syndromes, Blood, 122, 3616, 10.1182/blood-2013-08-518886
Kulasekararaj, 2013, Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes, Br J Haematol, 162, 587, 10.1111/bjh.12435
Bestor, 2000, The DNA methyltransferases of mammals, Hum Mol Genet, 9, 2395, 10.1093/hmg/9.16.2395
Li, 2013, DNA methyltransferases in hematologic malignancies, Semin Hematol, 50, 48, 10.1053/j.seminhematol.2013.01.005
Tahiliani, 2009, Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1, Science, 324, 930, 10.1126/science.1170116
Kriaucionis, 2009, The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain, Science, 324, 929, 10.1126/science.1169786
Bhutani, 2011, DNA demethylation dynamics, Cell, 146, 866, 10.1016/j.cell.2011.08.042
Song, 2012, Balance of DNA methylation and demethylation in cancer development, Genome Biol, 13, 173, 10.1186/gb-2012-13-10-2012
Delhommeau, 2009, Mutation in TET2 in myeloid cancers, N Engl J Med, 360, 2289, 10.1056/NEJMoa0810069
Jankowska, 2009, Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms, Blood, 113, 6403, 10.1182/blood-2009-02-205690
Itzykson, 2013, Prognostic score including gene mutations in chronic myelomonocytic leukemia, J Clin Oncol, 31, 2428, 10.1200/JCO.2012.47.3314
Kosmider, 2009, TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia, Haematologica, 94, 1676, 10.3324/haematol.2009.011205
Graubert, 2011, Genetics of myelodysplastic syndromes: new insights, Hematology Am Soc Hematol Educ Program, 2011, 543, 10.1182/asheducation-2011.1.543
Lindsley, 2013, Molecular pathophysiology of myelodysplastic syndromes, Annu Rev Pathol, 8, 21, 10.1146/annurev-pathol-011811-132436
Moran-Crusio, 2011, Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation, Cancer Cell, 20, 11, 10.1016/j.ccr.2011.06.001
Ko, 2010, Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2, Nature, 468, 839, 10.1038/nature09586
Ko, 2011, Ten-eleven-translocation 2 (TET2) negatively regulates homeostasis and differentiation of hematopoietic stem cells in mice, Proc Natl Acad Sci U S A, 108, 14566, 10.1073/pnas.1112317108
Quivoron, 2011, TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis, Cancer Cell, 20, 25, 10.1016/j.ccr.2011.06.003
Abdel-Wahab, 2011, Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms, Leukemia, 25, 1200, 10.1038/leu.2011.58
Figueroa, 2010, Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation, Cancer Cell, 18, 553, 10.1016/j.ccr.2010.11.015
Muto, 2013, Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders, J Exp Med, 210, 2627, 10.1084/jem.20131144
Shide, 2012, TET2 is essential for survival and hematopoietic stem cell homeostasis, Leukemia, 26, 2216, 10.1038/leu.2012.94
Bejar, 2012, Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes, J Clin Oncol, 30, 3376, 10.1200/JCO.2011.40.7379
Itzykson, 2011, Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias, Leukemia, 25, 1147, 10.1038/leu.2011.71
Sekeres, 2012, Phase 2 study of the lenalidomide and azacitidine combination in patients with higher-risk myelodysplastic syndromes, Blood, 120, 4945, 10.1182/blood-2012-06-434639
Traina, 2014, Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms, Leukemia, 28, 78, 10.1038/leu.2013.269
Liu, 2013, Decreased 5-hydroxymethylcytosine levels are associated with TET2 mutation and unfavorable overall survival in myelodysplastic syndromes, Leuk Lymphoma, 54, 2466, 10.3109/10428194.2013.778408
Goll, 2005, Eukaryotic cytosine methyltransferases, Annu Rev Biochem, 74, 481, 10.1146/annurev.biochem.74.010904.153721
Tsujioka, 2013, Effects of DNA methyltransferase inhibitors (DNMTIs) on MDS-derived cell lines, Exp Hematol, 41, 189, 10.1016/j.exphem.2012.10.006
Xu, 1999, Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene, Nature, 402, 187, 10.1038/46214
Ley, 2010, DNMT3A mutations in acute myeloid leukemia, N Engl J Med, 363, 2424, 10.1056/NEJMoa1005143
Thol, 2011, Rare occurrence of DNMT3A mutations in myelodysplastic syndromes, Haematologica, 96, 1870, 10.3324/haematol.2011.045559
Walter, 2011, Recurrent DNMT3A mutations in patients with myelodysplastic syndromes, Leukemia, 25, 1153, 10.1038/leu.2011.44
Kolquist, 2011, Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes, Cancer Genet, 204, 603, 10.1016/j.cancergen.2011.10.004
Xu, 2004, Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity, J Biol Chem, 279, 33946, 10.1074/jbc.M404298200
Fathi, 2012, Mutations in epigenetic modifiers in myeloid malignancies and the prospect of novel epigenetic-targeted therapy, Adv Hematol, 2012, 469592, 10.1155/2012/469592
Losman, 2013, What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer, Genes Dev, 27, 836, 10.1101/gad.217406.113
Parsons, 2008, An integrated genomic analysis of human glioblastoma multiforme, Science, 321, 1807, 10.1126/science.1164382
Patnaik, 2012, Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo clinic study of 277 patients, Leukemia, 26, 101, 10.1038/leu.2011.298
Tefferi, 2010, DH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis, Leukemia, 24, 1302, 10.1038/leu.2010.113
Thol, 2010, IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis, Haematologica, 95, 1668, 10.3324/haematol.2010.025494
Soverini, 2012, IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis, Leukemia, 25, 178, 10.1038/leu.2010.236
Boissel, 2010, Prognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leukemia French Association group, J Clin Oncol, 28, 3717, 10.1200/JCO.2010.28.2285
Chowdhury, 2011, The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases, EMBO Rep, 12, 463, 10.1038/embor.2011.43
Rakheja, 2013, The emerging role of d-2-hydroxyglutarate as an oncometabolite in hematolymphoid and central nervous system neoplasms, Front Oncol, 3, 169, 10.3389/fonc.2013.00169
Xu, 2011, Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases, Cancer Cell, 19, 17, 10.1016/j.ccr.2010.12.014
Lin, 2014, IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution, Am J Hematol, 89, 137, 10.1002/ajh.23596
Patnaik, 2010, WHO-defined ‘myelodysplastic syndrome with isolated del(5q)’ in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations, Leukemia, 24, 1283, 10.1038/leu.2010.105
Krell, 2013, IDH mutations in tumorigenesis and their potential role as novel therapeutic targets, Future Oncol, 9, 1923, 10.2217/fon.13.143
Abdel-Wahab, 2012, Interpreting new molecular genetics in myelodysplastic syndromes, Hematology Am Soc Hematol Educ Program, 2012, 56, 10.1182/asheducation.V2012.1.56.3798194
Kamminga, 2006, The Polycomb group gene Ezh2 prevents hematopoietic stem cell exhaustion, Blood, 107, 2170, 10.1182/blood-2005-09-3585
Lee, 2006, Control of developmental regulators by Polycomb in human embryonic stem cells, Cell, 125, 301, 10.1016/j.cell.2006.02.043
Margueron, 2011, The polycomb complex PRC2 and its mark in life, Nature, 469, 343, 10.1038/nature09784
Boyer, 2006, Polycomb complexes repress developmental regulators in murine embryonic stem cells, Nature, 441, 349, 10.1038/nature04733
Kondo, 2008, Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation, Nat Genet, 40, 741, 10.1038/ng.159
Gelsi-Boyer, 2009, Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia, Br J Haematol, 145, 788, 10.1111/j.1365-2141.2009.07697.x
Abdel-Wahab, 2012, ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression, Cancer Cell, 22, 180, 10.1016/j.ccr.2012.06.032
Wang, 2013, TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes, Leuk Res, 37, 305, 10.1016/j.leukres.2012.10.004
Wang, 2014, Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice, Blood, 123, 541, 10.1182/blood-2013-05-500272
Dey, 2012, Loss of the tumor suppressor BAP1 causes myeloid transformation, Science, 337, 1541, 10.1126/science.1221711
Szpurka, 2010, Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations, Leuk Res, 34, 969, 10.1016/j.leukres.2010.02.033
Gelsi-Boyer, 2010, ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia, Br J Haematol, 151, 365, 10.1111/j.1365-2141.2010.08381.x
Bacher, 2014, Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact, Br J Haematol, 164, 822, 10.1111/bjh.12710
Morin, 2010, Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin, Nat Genet, 42, 181, 10.1038/ng.518
Ernst, 2010, Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders, Nat Genet, 42, 722, 10.1038/ng.621
Guglielmelli, 2011, EZH2 mutational status predicts poor survival in myelofibrosis, Blood, 118, 5227, 10.1182/blood-2011-06-363424
Grossmann, 2011, Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance, Leukemia, 25, 877, 10.1038/leu.2011.10
Agger, 2007, UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development, Nature, 449, 731, 10.1038/nature06145
Thieme, 2013, The histone demethylase UTX regulates stem cell migration and hematopoiesis, Blood, 121, 2462, 10.1182/blood-2012-08-452003
Jankowska, 2012, Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A, Blood, 118, 3932, 10.1182/blood-2010-10-311019
van Haaften, 2009, Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer, Nat Genet, 41, 521, 10.1038/ng.349
Song, 1999, Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia, Nat Genet, 23, 166, 10.1038/13793
Imai, 2000, Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis, Blood, 96, 3154, 10.1182/blood.V96.9.3154
Harada, 2004, High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia, Blood, 103, 2316, 10.1182/blood-2003-09-3074
Kuo, 2009, RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutation s at the C-terminal region might predict acute myeloid leukemia transformation, Leukemia, 23, 1426, 10.1038/leu.2009.48
Steensma, 2005, Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia, Eur J Haematol, 74, 47, 10.1111/j.1600-0609.2004.00363.x
Dicker, 2010, Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML, Leukemia, 24, 1528, 10.1038/leu.2010.124
Chen, 2007, RUNX1 gene mutation in primary myelodysplastic syndrome – the mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome, Br J Haematol, 139, 405, 10.1111/j.1365-2141.2007.06811.x
Huynh, 2000, BCoR, a novel corepressor involved in BCL-6 repression, Genes Dev, 14, 1810, 10.1101/gad.14.14.1810
Li, 2011, Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia, Blood, 118, 5914, 10.1182/blood-2011-05-356204
Pagan, 2007, A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP, J Biol Chem, 282, 15248, 10.1074/jbc.M700246200
Wamstad, 2008, Role of the transcriptional corepressor BCOR in embryonic stem cell differentiation and early embryonic development, PLoS ONE, 3, e2814, 10.1371/journal.pone.0002814
Damm, 2013, BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders, Blood, 2122, 3169, 10.1182/blood-2012-11-469619
Grossmann, 2011, Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype, Blood, 118, 6153, 10.1182/blood-2011-07-365320
Golub, 1994, Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation, Cell, 77, 307, 10.1016/0092-8674(94)90322-0
Golub, 1995, Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia, Proc Natl Acad Sci U S A, 92, 4917, 10.1073/pnas.92.11.4917
De Braekeleer, 2012, ETV6 fusion genes in hematological malignancies: a review, Leuk Res, 36, 945, 10.1016/j.leukres.2012.04.010
Raynaud, 1996, Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes, Blood, 15, 682, 10.1182/blood.V88.2.682.bloodjournal882682
Haferlach, 2012, ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events, Genes Chromosomes Cancer, 51, 328, 10.1002/gcc.21918
Montano-Almendras, 2012, ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-κB, Haematologica, 97, 1064, 10.3324/haematol.2011.047530
Walz, 2011, Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3, Blood, 118, 2239, 10.1182/blood-2011-03-343426
Barjesteh van Waalwijk van Doorn-Khosrovani, 2005, Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia, Oncogene, 24, 4129, 10.1038/sj.onc.1208588
Silva, 2008, ETV6 mutations and loss in AML-M0, Leukemia, 22, 1639, 10.1038/leu.2008.34
Wall, 2012, ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7, Haematologica, 97, 1933, 10.3324/haematol.2012.069716
Padron, 2014, ETV6 and signaling gene mutations are associated with secondary transformation of myelodysplastic syndromes to chronic myelomonocytic leukemia, Blood, 123, 3675, 10.1182/blood-2014-03-562637
Cristobal, 2010, SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia, Blood, 115, 615, 10.1182/blood-2009-06-227363
Hoischen, 2010, De novo mutations of SETBP1 cause Schinzel–Giedion syndrome, Nat Genet, 42, 483, 10.1038/ng.581
Piazza, 2013, Recurrent SETBP1 mutations in atypical chronic myeloid leukemia, Nat Genet, 45, 18, 10.1038/ng.2495
Hou, 2014, Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression, Am J Hematol, 89, 181, 10.1002/ajh.23611
Fernandez-Mercado, 2013, Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression, Br J Haematol, 163, 235
Damm, 2013, SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias, Leukemia, 27, 1401, 10.1038/leu.2013.35
Makishima, 2013, Somatic SETBP1 mutations in myeloid malignancies, Nat Genet, 45, 942, 10.1038/ng.2696
Hahn, 2011, Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia, Nat Genet, 43, 1012, 10.1038/ng.913
Hyde, 2011, GATA2 mutations lead to MDS and AML, Nat Genet, 43, 926, 10.1038/ng.949
Ostergaard, 2011, Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome), Nat Genet, 43, 929, 10.1038/ng.923
Dickinson, 2011, Exome sequencing identifies GATA2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency, Blood, 118, 2656, 10.1182/blood-2011-06-360313
Hsu, 2011, Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome, Blood, 118, 2653, 10.1182/blood-2011-05-356352
Dickinson, 2014, The evolution of cellular deficiency in GATA2 mutation, Blood, 123, 863, 10.1182/blood-2013-07-517151
Pasquet, 2013, High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia, Blood, 121, 822, 10.1182/blood-2012-08-447367
Petitjean, 2007, TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes, Oncogene, 26, 2157, 10.1038/sj.onc.1210302
Sugimoto, 1993, Mutations of the p53 gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia, Blood, 81, 3022, 10.1182/blood.V81.11.3022.3022
Kulasekararaj, 2013, TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis, Br J Haematol, 160, 660, 10.1111/bjh.12203
Jädersten, 2011, TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression, J Clin Oncol, 29, 1971, 10.1200/JCO.2010.31.8576
Caceres, 2013, TP53 suppression promotes erythropoiesis in del(5q) MDS, suggesting a targeted therapeutic strategy in lenalidomide-resistant patients, Proc Natl Acad Sci U S A, 110, 16127, 10.1073/pnas.1311055110
Levine, 2005, Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis, Cancer Cell, 7, 387, 10.1016/j.ccr.2005.03.023
Steensma, 2005, The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both “atypical” myeloproliferative disorders and myelodysplastic syndromes, Blood, 106, 1207, 10.1182/blood-2005-03-1183
Ingram, 2006, The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow, Leukemia, 20, 1319, 10.1038/sj.leu.2404215
De Renzis, 2013, Prognostic impact of JAK2V617F mutation in myelodysplatic syndromes: a matched case–control study, Leuk Res Rep, 2, 64
Nadeau, 2012, Oncogenic signaling by leukemia-associated mutant Cbl proteins, Biochem Anal Biochem Suppl, 6, 7921
Sanada, 2009, Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms, Nature, 1460, 904, 10.1038/nature08240
Rathinam, 2008, The E3 ubiquitin ligase c-Cbl restricts development and functions of hematopoietic stem cells, Genes Dev, 22, 992, 10.1101/gad.1651408
Bunda, 2014, Juvenile myelomonocytic leukaemia-associated mutation in Cbl promotes resistance to apoptosis via the Lyn-PI3K/AKT pathway, Oncogene
Kohlmann, 2010, Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1, J Clin Oncol, 28, 3858, 10.1200/JCO.2009.27.1361
Schwaab, 2012, Activating CBL mutations are associated with a distinct MDS/MPN phenotype, Ann Hematol, 91, 1713, 10.1007/s00277-012-1521-3
Kao, 2011, A high occurrence of acquisition and/or expansion of C-CBL mutant clones in the progression of high-risk myelodysplastic syndrome to acute myeloid leukemia, Neoplasia, 13, 1035, 10.1593/neo.111192
Hancock, 2003, Ras proteins: different signals from different locations, Nat Rev Mol Cell Biol, 4, 373, 10.1038/nrm1105
Paquette, 1993, N-ras mutations are associated with poor prognosis and increased risk of leukemia in myelodysplastic syndrome, Blood, 82, 590, 10.1182/blood.V82.2.590.590
Wang, 2010, Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia, Blood, 116, 5991, 10.1182/blood-2010-04-281527
Damm, 2012, Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes, Blood, 119, 3211, 10.1182/blood-2011-12-400994
Boultwood, 2014, The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes, Adv Biol Regul, 54C, 153, 10.1016/j.jbior.2013.09.005
Yoshida, 2011, Frequent pathway mutations of splicing machinery in myelodysplasia, Nature, 478, 64, 10.1038/nature10496
Yoshida, 2014, Splicing factor mutations and cancer, Wiley Interdiscip Rev RNA, 5, 445, 10.1002/wrna.1222
Padgett, 2012, New connections between splicing and human disease, Trends Genet, 28, 147, 10.1016/j.tig.2012.01.001
Papaemmanuil, 2011, Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts, N Engl J Med, 365, 1384, 10.1056/NEJMoa1103283
Patnaik, 2012, SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value, Blood, 119, 569, 10.1182/blood-2011-09-377994
Makishima, 2012, Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis, Blood, 119, 3203, 10.1182/blood-2011-12-399774
Seo, 2014, Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts, Ann Hematol, 93, 603, 10.1007/s00277-013-1915-x
Ye, 2010, Erythropoiesis and iron sulfur cluster biogenesis, Adv Hematol, 2010, 10.1155/2010/329394
Cazzola, 2013, Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms, Blood, 121, 260, 10.1182/blood-2012-09-399725
Wu, 2012, The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution, Blood, 120, 3106, 10.1182/blood-2012-02-412296
Thol, 2012, Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes, Blood, 119, 3578, 10.1182/blood-2011-12-399337
Graubert, 2011, Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes, Nat Genet, 44, 53, 10.1038/ng.1031
Przychodzen, 2013, Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms, Blood, 8, 999, 10.1182/blood-2013-01-480970
Wu, 2013, Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression, Am J Hematol, 88, E277, 10.1002/ajh.23541
Barbero, 2009, Cohesins: chromatin architects in chromosome segregation, control of gene expression and much more, Cell Mol Life Sci, 66, 2025, 10.1007/s00018-009-0004-8
Kon, 2013, Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms, Nat Genet, 45, 1232, 10.1038/ng.2731
Walter, 2012, Clonal architecture of secondary acute myeloid leukemia, N Engl J Med, 366, 1090, 10.1056/NEJMoa1106968
Thol, 2014, Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications, Blood, 123, 914, 10.1182/blood-2013-07-518746
Solomon DA1, 2011, Mutational inactivation of STAG2 causes aneuploidy in human cancer, Science, 333, 1039, 10.1126/science.1203619
Nybakken, 2014, The genetic basis and expanding role of molecular analysis in the diagnosis, prognosis, and therapeutic design for myelodysplastic syndromes, J Mol Diagn, 16, 145, 10.1016/j.jmoldx.2013.11.005
Davids, 2010, The molecular pathogenesis of myelodysplastic syndromes, Cancer Biol Ther, 10, 309, 10.4161/cbt.10.4.12612