伴有i(17q)上PML-RARA融合的急性早幼粒细胞白血病及治疗相关的急性髓系白血病。
Acute promyelocytic leukemia with PML-RARA fusion on i(17q) and therapy-related acute myeloid leukemia.
作者信息
Lee Geok Yee, Christina Sivaswaren, Tien Sim Leng, Ghafar Anisah Bte Abdul, Hwang William, Lim Lay Cheng, Lim Tse Hui
机构信息
Cytogenetics Laboratory, Department of Pathology, Singapore General Hospital, Block 6, Level 5, Room A4, Outram Road, 169608 Singapore.
出版信息
Cancer Genet Cytogenet. 2005 Jun;159(2):129-36. doi: 10.1016/j.cancergencyto.2004.09.019.
We describe a patient with acute promyelocytic leukemia (APL) and the karyotype 46,XX,i(17)(q10) with PML-RARA fusion gene detected by fluorescence in situ hybridization (FISH) and nested reverse transcriptase-polymerase chain reaction (RT-PCR). FISH using dual-color translocation probes for PML (promyelocytic leukemia) and RARA (retinoic acid receptor-alpha) showed fusion signal for PML-RARA on both arms of i(17q). The patient attained complete remission (CR) with all-trans retinoic acid treatment and became PML-RARA negative. One year later, while PML-RARA negative on FISH and RT-PCR, the patient presented with thrombocytopenia. Bone marrow examination suggested an acute monoblastic leukemia (AML-M5a) including the karyotype 46,XX,t(8;16) (p11.2;p13.3),inv(11)(p15q22 approximately q23)[11]/47,idem,+i(8)(q10)[9]. She is currently in CR. The occurrence of therapy related acute leukemia after successful therapy for APL is an emerging problem.
我们描述了一名急性早幼粒细胞白血病（APL）患者，其核型为46,XX,i(17)(q10)，通过荧光原位杂交（FISH）和巢式逆转录聚合酶链反应（RT-PCR）检测到PML-RARA融合基因。使用针对PML（早幼粒细胞白血病）和RARA（维甲酸受体α）的双色易位探针进行FISH检测，结果显示在i(17q)的两条臂上均出现了PML-RARA融合信号。该患者接受全反式维甲酸治疗后达到完全缓解（CR），且PML-RARA转为阴性。一年后，虽然FISH和RT-PCR检测显示PML-RARA为阴性，但患者出现了血小板减少症。骨髓检查提示为急性单核细胞白血病（AML-M5a），核型包括46,XX,t(8;16)(p11.2;p13.3)，inv(11)(p15q22约q23)[11]/47,idem,+i(8)(q10)[9]。她目前处于完全缓解状态。APL成功治疗后发生治疗相关急性白血病是一个新出现的问题。
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