伴t(3;21)(q26;q22)髓系肿瘤临床分析

OBJECTIVE: To analyze the characteristics of myeloid neoplasms with t(3;21) (q26;q22). METHODS: Clinical data of patients with t(3; 21) (q26; q22), diagnosed as hematologic malignancies in Peking University people's hospital from January 2011 to March 2018, were collected retrospectively. 19 patients in our hospital and forty-eight patients bearing t(3;21) (q26;q22) with detailed survival data reported in literature were summarized. Kaplan-Meier method was used for survival analysis. RESULTS: Among 19 patients, including 15 males and 4 females with a median age of 36 years (22–68 years), 4 cases was diagnosed as de novo acute myeloid leukemia (AML), 4 as myelodysplastic syndromes (MDS), 3 as MDS-AML and 8 as chronic myelogenous leukemia (CML) in myeloid blast transformation. All of the 19 patients were detected to have t(3;21) (q26;q22) by G-banding technique and 13 carried additional cytogenetic aberrations. 9 of the 19 patients were detected for positive AML1-MDS1 fusion genes. In the 9 patients with detailed follow-up data, 6 patients received chemotherapy and only 2 achieved complete remission (CR) while 4 with no response. During the follow-up period, 8 patients died and the median overall survival (OS) was 6 months (4.5 to 22 months). Survival analysis of the present 9 patients together with the literature data showed that the prognosis was poor and the median OS was 7 months. In particular, AML/t-AML had the worst prognosis. Hematopoietic stem cell transplantation (HSCT) could significantly improve survival, the median OS in HSCT group and non-HSCT group were 20.9 and 4.7 months respectively (P<0.001). CONCLUSION: t(3;21) (q26;q22) is a rare recurrent chromosomal abnormality which is detected mainly in myeloid neoplasm and confer to poor clinical prognosis. HSCT should be recommended to improve the outcomes.