急性髓系白血病患者IDH1及IDH2基因突变及临床特征血液内科专业论文.docxVIP

PAGE PAGE VI Clinical Characteristics In Adult Acute Myeloid Leukemia Bearing The Isocitrate Dehydrogenase Gene Mutation Abstract Clinical Characteristics In Adult Acute Myeloid Leukemia Bearing The Isocitrate Dehydrogenase Gene Mutation Abstract Objective : To analyze the prevalence and clinical characteristics of IDH1 R132 and IDH2 R140/R172 gene mutations in acute myeloid leukemia(AML) patients. Methods : A total of 570 De Novo acute myeloid leukemia (AML) diagnosed and treatment in the First Affiliated Hospital of Soochow University during 2005 to 2011, which were classified according to MICM schema and were distinguished by cytogenetic risk categories. Polymerase chain reaction (PCR)and direct sequencing were used to sequence exon 4 of IDH gene．Patients were also studied for NPM1, FLT3-ITD, FLT3-TKD, WT1 and MLL-PTD mutations. Results : （1）In a cohort of 570 patients with AML IDH gene mutation was found in 90(15.79%) patients. IDH1 and IDH2 mutations were detected in 27 (4.74%) patients and 63(11.05%) patients, respectively. No patient was found with combination mutations in IDH1 and IDH2. （2）The highest frequency of IDH mutations was found in AML M1 (according to FAB) compared with all other subtypes (P0.0001).The median age was 53 years in mutated group and 40 years in wild type group(P=0.010)．Mutated and wild type groups did not significantly differ in gender, white blood cells(WBC)count at diagnosis，HGB count and BM blast percentage, excepting for PLT level (52*109/L versus 31*109/L,P0.0001)．IDH gene mutations were associated with cytogenetically normal (CN)-AML, NPM1 mutations and in particular with the genotype of mutated NPM1 without FLT3-ITD. IDH gene mutations had no significant correlation with WT1,FLT3-TKD and MLL-PTD mutations． Abstract Clinical Characteristics In Adult Acute Myeloid Leukemia Bearing The Isocitrate Dehydrogenase Gene Mutation (3) IDH mutated patients had lower CR rate than unmutated in non-M3 patients （58.1% VS 77.9%,