SNP-array lesions in core binding factor acute myeloid leukemia.

SNP-array lesions in core binding factor acute myeloid leukemia. Oncotarget. 2018 Jan 19;9(5):6478-6489 Authors: Duployez N, Boudry-Labis E, Roumier C, Boissel N, Petit A, Geffroy S, Helevaut N, Celli-Lebras K, Terré C, Fenneteau O, Cuccuini W, Luquet I, Lapillonne H, Lacombe C, Cornillet P, Ifrah N, Dombret H, Leverger G, Jourdan E, Preudhomme C Abstract Acute myeloid leukemia (AML) with t(8;21) and inv(16), together referred as core binding factor (CBF)-AML, are recognized as unique entities. Both rearrangements share a common pathophysiology, the disruption of the CBF, and a relatively good prognosis. Experiments have demonstrated that CBF rearrangements were insufficient to induce leukemia, implying the existence of cooperating events. To explore these aberrations, we performed single nucleotide polymorphism (SNP)-array in a well-annotated cohort of 198 patients with CBF-AML. Excluding breakpoint-associated lesions, the most frequent events included loss of a sex chromosome (53%), deletions at 9q21 (12%) and 7q36 (9%) in patients with t(8;21) compared with trisomy 22 (13%), trisomy 8 (10%) and 7q36 deletions (12%) in patients with inv(16). SNP-array revealed novel recurrent genetic alterations likely to be involved in CBF-AML leukemogenesis. ZBTB7A mutations (20% of t(8;21)-AML) were shown to be a target of copy-neutral losses of heterozygosity (CN-LOH) at chromosome 19p. FOXP1 focal deletions were identified in 5% of inv(16)-AM...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research