11例t(16;21)(p11;q22)急性髓系白血病病例报告并文献复习

目的:探讨11例伴t(16;21)(p11;q22)染色体易位的急性髓系白血病（acute myeloid leukemia，AML)患者的临床和实验室特点。方法:回顾性分析2007年07月至2022年03月我院收治的11例t((16;21)(p11;q22)染色体易位的AML患者临床及实验室特征并复习相关文献。结果:11例t(16;21)(p11;q22)染色体易位的白血病均为AML，FAB分型:M2型4例，M4型1例，M5型3例,AML(非M3)型3例；其中男5例，女6例。染色体R显带分析11例均可见到t(16;21)(p11;q22)染色体易位，其中9例伴有附加染色体异常。融合基因TLS/FUS-ERG检测了9例均为阳性。免疫表型除表达髓系CD34、CD117、CD33、CD13、CD38外，均表达CD56。化疗1个周期后完全缓解7例。结论:t(16;21)(p11;q22)染色体易位是一种少见的重现性染色体异常，该易位产生TLS/FUS-ERG融合基因，免疫学检测多伴CD56阳性，以AML中M2/M5型多见，化疗1个周期大部分可完全缓解，但短期内易复发，预后不良。

Report of 11 cases of acute myeloid leukemia t(16;21)(p11;q22) and review of literatures

Objective:To investigate the clinical and laboratory characteristics of 11 acute myeloid leukemia(AML) patients with t(16;21)(p11;q22) translocation.Methods:The clinical and laboratory characteristics of 11 acute myeloid leukemia patients with t(16;21)(p11;q22) in our hospital from July 2007 to March 2022 were analyzed retrospectively and the related literatures were reviewed.Results:All the 11 cases of t(16;21)(p11;q22) translocation were acute myeloid leukemia.According to FAB classification,there were 4 cases of type M2,1 case of type M4,3 cases of type M5 and 3 cases of AML(non-M3),including 5 males and 6 females.Chromosomal R-banding analysis showed t(16;21)(p11;q22) translocation in all 11 cases,of which 9 cases were associated with additional chromosome abnormalities.Fusion gene TLS/FUS-ERG was positive in 9 cases.Except for myeloid CD34,CD117,CD33,CD13 and CD38,all the immunophenotypes expressed CD56.Complete remission was achieved in 7 cases after one cycle of chemotherapy.Conclusion:t(16;21)(p11;q22) translocation is a rare recurrent chromosomal abnormality.This translocation produces TLS/FUS-ERG fusion gene,and immunological tests are often accompanied with positive CD56.M2/M5 type is most common in acute myeloid leukemia.Most of them can be completely relieved in the first cycle of chemotherapy,but it is easy to relapse in a short time and the prognosis is poor.