4,053
Views
14
CrossRef citations to date
0
Altmetric
Articles

Mutational landscape of patients with acute myeloid leukemia or myelodysplastic syndromes in the context of RUNX1 mutation

, ORCID Icon, , , &

References

  • Swiers G, De Bruijn M, Speck NA. Hematopoietic stem cell emergence in the conceptus and the role of Runx1. Int J Dev Biol. 2010;54(6–7):1151–1163. doi: 10.1387/ijdb.103106gs
  • Sood R, Kamikubo Y, Liu P. Role of RUNX1 in hematological malignancies. Blood. 2017;129(15):2070–2082. doi: 10.1182/blood-2016-10-687830
  • Miyoshi H, Shimizu K, Kozu T, et al. T(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci U S A. 1991;88(23):10431–10434. doi: 10.1073/pnas.88.23.10431
  • Michaud J. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99(4):1364–1372. doi: 10.1182/blood.V99.4.1364
  • Gaidzik V I, Teleanu V, Papaemmanuil E, et al. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia. 2016 Nov;30(11):2160–2168. doi: 10.1038/leu.2016.126
  • Jalili M, Yaghmaie M, Ahmadvand M, et al. Prognostic value of RUNX1 mutations in AML: a meta-analysis. Asian Pac J Cancer Prev. 2018;Feb 26;19(2):325–329.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405. doi: 10.1182/blood-2016-03-643544
  • Ripperger T, Steinemann D, Gohring G, et al. A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation? Leukemia. 2009 Jul;23(7):1364–1366. doi: 10.1038/leu.2009.87
  • Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014 Feb;28(2):241–247. doi: 10.1038/leu.2013.336
  • Chen CY, Lin L, Tang JL, et al. RUNX1 gene mutation in primary myelodysplastic syndrome–the mutation can be detected early at diagnosis oracquired during disease progression and is associated with poor outcome. Br J Haematol. 2007 Nov;139(3):405–414. doi: 10.1111/j.1365-2141.2007.06811.x
  • Willatt L, Morgan SM, Shaffer LG, et al. ISCN 2009 an international system for human cytogenetic nomenclature. Hum Genet. 2009;126(4):603–604. doi: 10.1007/s00439-009-0726-6
  • Rau R, Brown P. Nucleophosmin (NPM1) mutations in adult and childhood acute myeloid leukaemia: towards definition of a new leukaemia entity. Hematol Oncol. 2009 Dec;27(4):171–181. doi: 10.1002/hon.904
  • Lin LI, Chen CY, Lin DT, et al. Characterization of CEBPA mutations in acute myeloid leukemia: most patients with CEBPA mutations have biallelic mutations and show a distinct immunophenotype of the leukemic cells. Clin Cancer Res. 2005 Feb 15;11(4):1372–1379. doi: 10.1158/1078-0432.CCR-04-1816
  • Kiyoi H, Naoe T, Nakano Y, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999 May 1;93(9):3074–3080.
  • Hata T. Current diagnosis and treatment for myelodysplastc syndromes. Rinsho Ketsueki. 2017;58(4):373–380.
  • Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364:2496–2506. doi: 10.1056/NEJMoa1013343
  • Sood R, Kamikubo Y, Liu P. Role of RUNX1 in hematological malignancies. Blood. 2017 Apr 13;129(15):2070–2082. doi: 10.1182/blood-2016-10-687830
  • Schnittger S, Dicker F, Kern W, et al. RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis. Blood. 2011 Feb 24;117(8):2348–2357. doi: 10.1182/blood-2009-11-255976
  • Mangan JK1, Speck NA. RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making. Crit RevOncog. 2011;16(1-2):77–91.
  • Sehgal AR, Gimotty PA, Zhao J, et al. DNMT3A mutational status affects the results of dose-escalated induction therapy in acute myelogenous leukemia. Clin Cancer Res. 2015 Apr 1;21(7):1614–1620. doi: 10.1158/1078-0432.CCR-14-0327
  • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424–2433. doi: 10.1056/NEJMoa1005143
  • Tan M, Ng IKS, Chen Z, et al. Clinical implications of DNMT3A mutations in a Southeast Asian cohort of acute myeloi leukaemia patients. J Clin Pathol. 2017 Aug;70(8):669–676. doi: 10.1136/jclinpath-2016-204195
  • Rakheja D, Konoplev S, Medeiros LJ, et al. IDH mutations in acute myeloid leukemia. Hum Pathol. 2012;43(10):1541–1551. doi: 10.1016/j.humpath.2012.05.003
  • DiNardo CD, Ravandi F, Agresta S, et al. Characteristics, clinical outcome, and prognostic significance of IDH mutations in AML. Am J Hematol. 2015;90(8):732–736. doi: 10.1002/ajh.24072
  • Yamaguchi S, Iwanaga E, Tokunaga K, et al. IDH1 and IDH2 mutations confer an adverse effect in patients with acute myeloid leukemia lacking the NPM1 mutation. Eur J Haematol. 2014;92(6):471–477. doi: 10.1111/ejh.12271
  • Zhang T, Xu Y, Pan J, et al. High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10; p10). Leukemia. 2017 Oct;31(10):2257–2260. doi: 10.1038/leu.2017.228
  • Tefferi A, Idossa D, Lasho TL, et al. Mutations and karyotype in myelodysplastic syndromes: TP53 clusters with monosomal karyotype, RUNX1 with trisomy 21, and SF3B1 with inv(3)(q21q26.2) and del(11q). Blood Cancer J. 2017 Dec 18;7(12):658. doi: 10.1038/s41408-017-0017-8
  • Fernandez-Mercado M, Burns A, Pellagatti A, et al. Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes. Haematologica. 2013 Dec;98(12):1856–1864. doi: 10.3324/haematol.2013.086686