Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations

Blood

Volumn 124, Issue 9, 2014, Pages 1445-1449

  Micol, Jean Baptiste ^a,b   Duployez, Nicolas ^c   Boissel, Nicolas ^d   Petit, Arnaud ^d   Geffroy, Sandrine ^c   Nibourel, Olivier ^c   Lacombe, Catherine ^d   Lapillonne, Helene ^d   Etancelin, Pascaline ^c   Figeac, Martin ^c   Renneville, Aline ^c   Castaigne, Sylvie ^e   Leverger, Guy ^d   Ifrah, Norbert ^f   Dombret, Hervé ^d   Preudhomme, Claude ^c   Abdel Wahab, Omar ^b   Jourdan, Eric ^g  

^a INSERM   (France)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c UNIV LILLE   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e CENTRE HOSPITALIER DE VERSAILLES   (France)

^f ANGERS UNIVERSITY HOSPITAL   (France)

^g NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR RUNX1; AML1-ETO FUSION PROTEIN, HUMAN; ASXL1 PROTEIN, HUMAN; ASXL2 PROTEIN, HUMAN; ONCOPROTEIN; REPRESSOR PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADDITIONAL SEX COMBS LIKE 2 GENE; ADULT; AGED; ARTICLE; CANCER INCIDENCE; CANCER PATIENT; CHILD; CHROMOSOME TRANSLOCATION; CLINICAL TRIAL (TOPIC); FEMALE; GENE; GENETIC HETEROGENEITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MUTANT; OVERALL SURVIVAL; PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; RECURRENT DISEASE; RELAPSE; SOMATIC MUTATION; TUMOR GENE; WILD TYPE; ADOLESCENT; CHROMOSOME 21; CHROMOSOME 8; CLASSIFICATION; CLINICAL TRIAL; CONTROLLED STUDY; GENE FREQUENCY; GENE TRANSLOCATION; GENETICS; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MINIMAL RESIDUAL DISEASE; MULTICENTER STUDY; MUTATION; PHASE 3 CLINICAL TRIAL; PRESCHOOL CHILD; RANDOMIZED CONTROLLED TRIAL; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 8; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FEMALE; GENE FREQUENCY; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; NEOPLASM, RESIDUAL; ONCOGENE PROTEINS, FUSION; REPRESSOR PROTEINS; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84907344294     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-04-571018     Document Type: Article

References (22)

1. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
2. Grimwade D, Hills RK, Moorman AV, et al; National Cancer Research Institute Adult Leukaemia Working Group. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116(3):354-365.
3. 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.
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. Hatlen MA, Wang L, Nimer SD. AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches. Fr Medecine. 2012;6(3):248-262.
6. Paschka P, Marcucci G, Ruppert AS, et al; Cancer and Leukemia Group B. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): a Cancer and Leukemia Group B Study. J Clin Oncol. 2006;24(24):3904-3911.
7. Shimada A, Taki T, Tabuchi K, et al. KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t(8;21): a study of the Japanese Childhood AML Cooperative Study Group. Blood. 2006;107(5): 1806-1809.
8. 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.
9. 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.
10. Bacher U, Haferlach T, Schoch C, Kern W, Schnittger S. Implications of NRAS mutations in AML: a study of 2502 patients. Blood. 2006; 107(10):3847-3853.
11. Krauth MT, 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 [published online January 9, 2014]. Leukemia.
12. Huether R, Dong L, Chen X, et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun. 2014;5:3630.
13. 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.
14. Castaigne S, Pautas C, Terré C, et al; Acute Leukemia French Association. Effect of gemtuzumab ozogamicin on survival of adult patients with de-novo acute myeloid leukaemia (ALFA-0701): a randomised, open-label, phase 3 study. Lancet. 2012;379(9825):1508-1516.
15. Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009; 145(6):788-800.
16. Metzeler KH, Becker H, Maharry K, et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category. Blood. 2011;118(26):6920-6929.
17. 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.
18. Steensma DP. The beginning of the end of the beginning in cancer genomics. N Engl J Med. 2013;368(22):2138-2140.
19. Grossmann V, Tiacci E, Holmes AB, et al. Wholeexome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood. 2011;118(23):6153-6163.
20. Yan XJ, Xu J, Gu ZH, et al. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet. 2011;43(4): 309-315.
21. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
22. Katoh M. Functional and cancer genomics of ASXL family members. Br J Cancer. 2013;109(2):299-306.