Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoïesis and a high incidence of P53 mutations.

摘要: We looked for correlations between cytogenetic rearrangements leading to 17p deletion and presence of dysgranulopoiesis p53 mutations in MDS AML. Forty-nine (4.3%) the AML studied cytogenetically at our institution over a period 11 years had detectable deletion, through monosomy 17 (14 cases) or chromosome (generally unbalanced translocations another chromosome) (35 cases). Most patients additional complex findings, 10 cases were therapy related. In 70% with particular type dysgranulopoiesis, combining pseudo-Pelger-Huet anomaly small vacuolated neutrophils was seen > 5% marrow neutrophils, whereas 69% mutation, generally missense mutation involving exons 5 8 gene. FISH analysis, performed eight cases, confirmed loss one P53 allele all them. No DNA fragmentation suggesting increased apoptosis found samples. Response chemotherapy almost uniformly poor median survival only 3 months. Analysis also made 'control' groups without deletion. 'Typical' not any 47 analyzed (P = 10(-4) having deletion), five but mutation. Only 3.1% 256 deletion). These findings suggest that AML, is strongly correlated high incidence mutations, could constitute new morphological-cytogenetic-molecular entity myeloid disorders.