Objective: To analyze the biological and clinical characteristics of acute myeloid leukemia (AML) with t (16;21) (p11;q22), and the curative effect and prognosis.
Methods: A retrospective study was conducted in nine cases with AML with t(16;21) (p11;q22) from January, 2009 to December, 2014 in People's Hospital of Peking University.
Results: Of 1 372 AML patients, 9 cases with t(16;21) (p11;q22), 4 males and 5 females, were identified. According to the FAB classification, 1 case was classified as M1, 5 as M2, 1 as M4, 2 as M5. Three patients have morphological cavity at the time of diagnosis. Immunophenotypic features showed the positive CD117, CD13, CD33 and CD34, especially CD56. 5 cases were identified as complex karyotype abnormalities, besides from t (16;21) (p11;q22). All cases could be detected TLS/FUS-ERG fusion genes. 9 cases acquired complete remission (CR) after chemotherapy. 2 cases were only treated with chemotherapy and relapsed after 5 months and 16 months, and died at 10 months and 27 months after diagnosis. 7 of 9 cases accepted allogeneic hematopoietic stem cell transplantation (allo-HSCT) after chemotherapy, the median survival for 21 months (11-46 months). Summarized the 42 cases of adult AML with t (16;21) (p11;q22) from literature, 27 cases with chemotherapy alone, 15 cases underwent HSCT, the median survival for 10 (95% CI 1-17) months and 18(95% CI 2-76) months, respectively. The difference was statistically significant (P<0.001).
Conclusions: AML with t (16;21) (p11;q22) was rare, it has a special form and distinct immunophenotypic characteristics and poor prognosis, allo-HSCT could improve the prognosis and should be considered after CR.
目的: 探讨t(16;21）（p11；q22）急性髓系白血病（AML）的生物学及临床特征、疗效及预后。
方法: 回顾性分析2009年1月至2014年12月北京大学人民医院收治的9例初诊t(16;21）（p11；q22）AML患者临床资料，并汇总国外文献报道的42例患者，采用Kaplan-Meier法进行生存分析。
结果: 9例t(16;21）（p11；q22) AML占同期AML患者的0.66%。9例患者中，男4例，女5例。FAB分型：M1 1例、M2 5例、M4 1例、M5 2例；其中3例在诊断时形态学可见空泡形成。免疫表型除表达髓系CD117、CD13、CD33及CD34外，均表达CD56。染色体G显带分析均可见t(16;21）（p11；q22），5例伴有复杂核型。所有患者均可检测到TLS/FUS-ERG融合基因。9例化疗后均获完全缓解（CR）。2例仅接受化疗的患者分别于诊断后5和16个月复发，并于10和27个月死亡。7例于缓解后接受异基因造血干细胞移植（allo-HSCT），中位生存21(11~46）个月。汇总文献报道的42例成人t(16;21）（p11;q22）AML患者，其中单纯化疗组27例，HSCT组15例，两组患者中位生存期分别为10(95% CI 1~17）个月及18(95% CI 2~76）个月，差异有统计学意义（P<0. 001）。
结论: t(16;21）（p11；q22) AML是一类少见的AML，其具有特殊的形态学及免疫表型特点，总体预后差，allo-HSCT治疗可改善其预后，推荐首次CR后行allo-HSCT治疗。