Ph/BCR-ABL阳性急性髓系白血病12例临床及实验室特征分析

OBJECTIVE: To explore the clinical and laboratory characteristics in favor of the diagnosis of Ph/BCR-ABL positive acute myeloid leukemia (Ph/BCR-ABL(+) AML). METHODS: Retrospectively analyzed the clinical and laboratory characteristics of 12 Ph/BCR-ABL(+) AML cases from Feb, 2006 to Dec, 2013, with classic myeloid blast crisis of chronic myeloid leukemia (CML-MBC) as control, and followed-up the survival in these two cohorts of patients. RESULTS: The median age of 12 Ph/BCR-ABL (+) AML was 27.5 years, 10 cases (83.3%) showed non/mild splenomegaly, and mainly comprised of M(2) and M(4) subtypes according to FAB classification. The median number of basophils and megakaryocytes in peripheral blood and bone marrow was lower than that of CML-CBC patients. All the cases expressed myeloid antigens, 8 cases (66.7%) expressed CD34, 11 cases were detected with t(9;22), 5 cases (45.5%) with additional chromosomal abnormalities, including 1 case of inv(16). All the cases had BCR-ABL transcripts at diagnosis: 3 (25.0%) cases were e1a2type and the remaining was b2a2/b3a2type, among which 1 case coexpressed CBFβ-MYH11. Two out of 6 cases existed AML-like mutations: 1 case of CEBPA and the other of FLT3-TKD. For all the patients, 7 cases achieved complete remission (CR), including 6 out of 7 cases receiving induction chemotherapy combined with tyrosine kinase inhibitor (TKI) achieved CR, and 1 out of 3 cases receiving chemotherapy alone achieved CR. The median overall survival was 16.5 months, that of allo-HSCT group was 33.5 months, which was higher than that of non-HSCT group (5.5 months). CONCLUSION: The expression of e1a2type BCR-ABL, the coexpression of fusion genes which were more common in AML, the existence of AML-like mutations were all indications of a de novo Ph/BCR-ABL(+) AML. Low induction CR rate and short survival of Ph/BCR-ABL(+) AML implied that chemotherapy combined with TKI and followed by allo-HSCT in CR was the only effective way to improve their survival.