Comprehensive mutational profiling of core binding factor acute myeloid leukemia

Blood

Volumn 127, Issue 20, 2016, Pages 2451-2459

  Duployez, Nicolas ^a,b   Marceau Renaut, Alice ^a,b   Boissel, Nicolas ^c   Petit, Arnaud ^d   Bucci, Maxime ^a   Geffroy, Sandrine ^a,b   Lapillonne, Hélène ^d   Renneville, Aline ^a,b   Ragu, Christine ^d   Figeac, Martin ^e   Celli Lebras, Karine ^c   Lacombe, Catherine ^f   Micol, Jean Baptiste ^g,h   Abdel Wahab, Omar ^h   Cornillet, Pascale ⁱ   Ifrah, Norbert ^j   Dombret, Hervé ^c   Leverger, Guy ^d   Jourdan, Eric ^k   Preudhomme, Claude ^a,b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e UNIV LILLE   (France)

^f INSERM UMR 1170 ^*  (France)

^g INSTITUT GUSTAVE ROUSSY   (France)

^h WEILL CORNELL MEDICAL COLLEGE   (United States)

ⁱ REIMS UNIVERSITY HOSPITAL   (France)

^j ANGERS UNIVERSITY HOSPITAL   (France)

^k NÎMES UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD135 ANTIGEN; COHESIN; CORE BINDING FACTOR; INTERLEUKIN 2; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; K RAS PROTEIN; PROTEIN TYROSINE KINASE; STEM CELL FACTOR; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR EZH2; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1; WT1 PROTEIN; AML1-ETO FUSION PROTEIN, HUMAN; CBFBETA-MYH11 FUSION PROTEIN; CELL CYCLE PROTEIN; CHROMATIN; DNA; NONHISTONE PROTEIN; ONCOPROTEIN;

ACUTE MYELOID LEUKEMIA; ADOLESCENT; ADULT; ALLELE; ARTICLE; CANCER PROGNOSIS; CHILD; CHILDHOOD LEUKEMIA; CODON; COHORT ANALYSIS; DNA METHYLATION; EPIGENETICS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; ONCOGENE N RAS; PHASE 3 CLINICAL TRIAL (TOPIC); POINT MUTATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; CHROMATIN; CHROMOSOME 16; CHROMOSOME 21; CHROMOSOME 8; CHROMOSOME INVERSION; DNA MUTATIONAL ANALYSIS; GENE TRANSLOCATION; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MIDDLE AGED; MUTATION; PRESCHOOL CHILD; PROGNOSIS; ULTRASTRUCTURE; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMATIN; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 8; CORE BINDING FACTOR ALPHA 2 SUBUNIT; CORE BINDING FACTORS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; ONCOGENE PROTEINS, FUSION; PROGNOSIS; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 85015404714     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-12-688705     Document Type: Article

References (51)

1. Schoch C, Kern W, Schnittger S, Büchner T, Hiddemann W, Haferlach T. The influence of age on prognosis of de novo acute myeloid leukemia differs according to cytogenetic subgroups. Haematologica. 2004;89(9):1082-1090.
2. Döhner H, Estey EH, Amadori S, et al; European LeukemiaNet. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010;115(3):453-474.
3. Jourdan E, Boissel N, Chevret S, et al; French AML Intergroup. Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. Blood. 2013;121(12):2213-2223.
4. Schlenk RF, Benner A, Krauter J, et al. Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: a survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol. 2004;22(18):3741-3750.
5. Appelbaum FR, Kopecky KJ, Tallman MS, et al. The clinical spectrum of adult acute myeloid leukaemia associated with core binding factor translocations. Br J Haematol. 2006;135(2):165-173.
6. Marcucci G, Mrózek K, Ruppert AS, et al. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. J Clin Oncol. 2005;23(24):5705-5717.
7. Rowley JD. Identificaton of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973;16(2):109-112.
8. Le Beau MM, Larson RA, Bitter MA, Vardiman JW, Golomb HM, Rowley JD. Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia. A unique cytogenetic-clinicopathological association. N Engl J Med. 1983;309(11):630-636.
9. Renneville A, Roumier C, Biggio V, et al. Cooperating gene mutations in acute myeloid leukemia: a review of the literature. Leukemia. 2008;22(5):915-931.
10. Speck NA, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer. 2002;2(7):502-513.
11. Downing JR. The core-binding factor leukemias: lessons learned from murine models. Curr Opin Genet Dev. 2003;13(1):48-54.
12. Miyamoto T, Nagafuji K, Akashi K, et al. Persistence of multipotent progenitors expressing AML1/ETO transcripts in long-term remission patients with t(8;21) acute myelogenous leukemia. Blood. 1996;87(11):4789-4796.
13. Wiemels JL, Xiao Z, Buffler PA, et al. In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia. Blood. 2002;99(10):3801-3805.
14. Gilliland DG. Molecular genetics of human leukemias: new insights into therapy. Semin Hematol. 2002;39(4 Suppl 3):6-11.
15. Duployez N, Willekens C, Marceau-Renaut A, Boudry-Labis E, Preudhomme C. Prognosis and monitoring of core-binding factor acute myeloid leukemia: current and emerging factors. Expert Rev Hematol. 2015;8(1):43-56.
16. Sangle NA, Perkins SL. Core-binding factor acute myeloid leukemia. Arch Pathol Lab Med. 2011;135(11):1504-1509.
17. Schoch C, Kohlmann A, Schnittger S, et al. Acute myeloid leukemias with reciprocal rearrangements can be distinguished by specific gene expression profiles. Proc Natl Acad Sci USA. 2002;99(15):10008-10013.
18. Hsu C-H, Nguyen C, Yan C, et al. Transcriptome profiling of pediatric core binding factor AML. PLoS One. 2015;10(9):e0138782.
19. Micol J-B, Duployez N, Boissel N, et al. Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations. Blood. 2014;124(9):1445-1449.
20. Duployez N, Micol J-B, Boissel N, et al. Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21). Leuk Lymphoma. 2015;57(1):199-200.
21. Metzeler KH. ASXL genes and RUNX1: an intimate connection? Blood. 2014;124(9):1382-1383.
22. Bendl J, Stourac J, Salanda O, et al. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLOS Comput Biol. 2014;10(1):e1003440.
23. Boissel N, Leroy H, Brethon B, et al; Acute Leukemia French Association (ALFA); Leucémies Aiguës Myéloblastiques de l'Enfant (LAME) Cooperative Groups. Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia. 2006;20(6):965-970.
24. Lausen B, Schumacher M. Maximally selected rank statistics. Biometrics. 1992;48(1):73-85.
25. Grambsch PM, Therneau TM. Proportional hazards tests and diagnostics based on weighted residuals. Biometrika. 1994;81(3):515-526.
26. Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22):2059-2074.
27. Pollard JA, Alonzo TA, Gerbing RB, et al. Prevalence and prognostic significance of KIT mutations in pediatric patients with core binding factor AML enrolled on serial pediatric cooperative trials for de novo AML. Blood. 2010;115(12):2372-2379.
28. Bodemer C, Hermine O, Palmérini F, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010;130(3):804-815.
29. Kinoshita K, Hirota S, Isozaki K, et al. Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. Am J Gastroenterol. 2007;102(5):1134-1136.
30. Paschka P, Du J, Schlenk RF, et al. Secondary genetic lesions in acute myeloid leukemia with inv (16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). Blood. 2013;121(1):170-177.
31. Dunbar AJ, Gondek LP, O'Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
32. Wu H, Zeng H, Dong A, et al. Structure of the catalytic domain of EZH2 reveals conformational plasticity in cofactor and substrate binding sites and explains oncogenic mutations. PLoS One. 2013;8(12):e83737.
33. Gröschel S, Sanders MA, Hoogenboezem R, et al. Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways. Blood. 2015;125(1):133-139.
34. Kon A, Shih L-Y, Minamino M, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet. 2013;45(10):1232-1237.
35. Conway O'Brien E, Prideaux S, Chevassut T. The epigenetic landscape of acute myeloid leukemia. Adv Hematol. 2014;2014:1-15.
36. Krauth M-T, Eder C, Alpermann T, et al. High number of additional genetic lesions in acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1: frequency and impact on clinical outcome. Leukemia. 2014;28(7):1449-1458.
37. Allen C, Hills RK, Lamb K, et al. The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in corebinding factor acute myeloid leukemia. Leukemia. 2013;27(9):1891-1901.
38. Jones D, Yao H, Romans A, et al. Modeling interactions between leukemia-specific chromosomal changes, somatic mutations, and gene expression patterns during progression of core-binding factor leukemias. Genes Chromosomes Cancer. 2010;49(2):182-191.
39. Mead AJ, Linch DC, Hills RK, Wheatley K, Burnett AK, Gale RE. FLT3 tyrosine kinase domain mutations are biologically distinct from and have a significantly more favorable prognosis than FLT3 internal tandem duplications in patients with acute myeloid leukemia. Blood. 2007;110(4):1262-1270.
40. Mead AJ, Gale RE, Hills RK, et al. Conflicting data on the prognostic significance of FLT3/TKD mutations in acute myeloid leukemia might be related to the incidence of biallelic disease. Blood. 2008;112(2):444-445, author reply 445.
41. Sood R, Hansen NF, Donovan FX, et al. Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia. Leukemia. 2016;30(2):501-504.
42. Daou S, Hammond-Martel I, Mashtalir N, et al. The BAP1/ASXL2 histone H2A deubiquitinase complex regulates cell proliferation and is disrupted in cancer. J Biol Chem. 2015;290(48):28643-28663.
43. Abdel-Wahab O, Levine RL. Mutations in epigenetic modifiers in the pathogenesis and therapy of acute myeloid leukemia. Blood. 2013;121(18):3563-3572.
44. Yamamoto Y, Abe A, Emi N. Clarifying the impact of polycomb complex component disruption in human cancers. Mol Cancer Res. 2014;12(4):479-484.
45. Thol F, Bollin R, Gehlhaar M, et al. Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications. Blood. 2014;123(6):914-920.
46. Schaaf CA, MisulovinZ, Gause M, et al. Cohesin and polycomb proteins functionally interact to control transcription at silenced and active genes. PLoS Genet. 2013;9(6):e1003560.
47. Chou W-C, Huang H-H, Hou H-A, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood. 2010;116(20):4086-4094.
48. Thota S, Viny AD, Makishima H, et al. Genetic alterations of the cohesin complex genes in myeloid malignancies. Blood. 2014;124(11):1790-1798.
49. Horsfield JA, Anagnostou SH, Hu JK-H, et al. Cohesin-dependent regulation of Runx genes. Development. 2007;134(14):2639-2649.
50. Mazumdar C, Shen Y, Xavy S, et al. Leukemia-associated cohesin mutants dominantly enforce stem cell programs and impair human hematopoietic progenitor differentiation. Cell Stem Cell. 2015;17(6):675-688.
51. Williams MS, Somervaille TCP. Leukemogenic activity of cohesin rings true. Cell Stem Cell. 2015;17(6):642-644.