Wang Zheng, Li Ye, Dang Hui, Shi Yan, He Qi, Feng Lin, Bao Li, Qin Yazhen, Liu Yanrong, Huang Xiaojun, Lai Yueyun
Peking University People's Hospital, Peking University Institute of Hematolgy, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):276-279. doi: 10.3760/cma.j.issn.1003-9406.2018.02.030.
To report on a case of therapy-related acute monocytic leukemia(t-AML) with t(11;17) (q23;q21)/MLL-AF17q after successful treatment for acute promyelocytic leukemia(APL) with t(15;17) (q22;q21)/PML-RARα.
A MICM method (bone marrow morphology(M), immunophenotype(I), cytogenetics(C), and molecular biology(M)) was used for the diagnosis and classification of the disease at the time of onset and transformation.
The patient was initially identified with typical morphology and immunophenotype of APL. She has carried t(15;17)(q22;q21) and PML-RARα fusion gene but was without t(11;17)(q23;q21) or MLL gene abnormalities. After 13 months of successful treatment, she has transformed to AML with typical morphology and immunophenotype. t(11;17)(q23;q21) and MLL-AF17q fusion gene were detected in her bone marrow sample, while no PLZF-RARα fusion gene was detected by real-time quantitative reverse-transcription PCR(RQ-PCR) and fluorescence in situ hybridization(FISH).
t-AML is a serious complication after successful treatment of APL. t(11;17)(q23;q21) is not specific for the diagnosis of variant APL and can also be detected in t-AML. RQ-PCR and FISH are essential for the diagnosis of such patients.
报告1例急性早幼粒细胞白血病(APL)伴t(15;17)(q22;q21)/PML-RARα成功治疗后发生的治疗相关急性单核细胞白血病(t-AML)伴t(11;17)(q23;q21)/MLL-AF17q。
采用MICM方法(骨髓形态学(M)、免疫表型(I)、细胞遗传学(C)和分子生物学(M))对发病及转化时的疾病进行诊断和分类。
患者最初经典型的APL形态学和免疫表型确诊。她携带t(15;17)(q22;q21)和PML-RARα融合基因,但无t(11;17)(q23;q21)或MLL基因异常。成功治疗13个月后,她转化为具有典型形态学和免疫表型的AML。在她的骨髓样本中检测到t(11;17)(q23;q21)和MLL-AF17q融合基因,而实时定量逆转录PCR(RQ-PCR)和荧光原位杂交(FISH)未检测到PLZF-RARα融合基因。
t-AML是APL成功治疗后的严重并发症。t(11;17)(q23;q21)并非变异型APL诊断所特有,也可在t-AML中检测到。RQ-PCR和FISH对这类患者的诊断至关重要。