伴t(3;21)(q26;q22)髓系肿瘤临床分析

摘要

目的 探讨伴有t(3;21) (q26;q22)髓系肿瘤的临床特征.方法 回顾性分析2011年1月至2018年3月北京大学人民医院收治的19例伴有t(3;21) (q26;q22)血液恶性肿瘤患者的临床资料,并汇总文献报道的有详细生存资料的48例患者,采用Kaplan-Meier法进行生存分析.结果 19例患者中男15例,女4例,中位年龄36(22～68)岁,包括原发急性髓系白血病(AML)4例,骨髓增生异常综合征(MDS)4例,MDS转化的AML3例,慢性髓性白血病(CML)急变8例.19例患者染色体核型均可见t(3;21) (q26;q22),其中13例伴有附加异常.19例中9例进行AML 1-MDS1融合基因检测均阳性.9例患者有随访资料,6例接受化疗的患者中4例无效,2例获得完全缓解.随访期内除1例MDS患者因随访期短(6个月)仍存活,其余8例均死亡,中位生存时间为6(4.5～22)个月.汇总文献生存分析结果显示伴有t(3;21) (q26;q22)的髓系肿瘤患者整体预后差,中位生存时间为7个月,尤以AML/治疗相关的AML预后最差,移植和非移植组中位生存时间分别为20.9和4.7个月,差异有统计学意义(P＜0.001).结论 t(3;21) (q26;q22)是罕见的重现性染色体异常,主要见于髓系血液肿瘤,临床预后差,建议尽早进行造血干细胞移植.%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 AML 1-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).Conclusions 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.