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成人急性淋巴细胞白血病中的一种新型三向Ph变异体t(8;9;22)

A novel three-way Ph variant t(8;9;22) in adult acute lymphoblastic leukemia.

作者信息

Cho Sun Young, Kim So Young, Jeon You La, Oh Seung Hwan, Cho Eun Hae, Lee Woo-In, Cho Kyung Sam, Park Tae Sung

机构信息

Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.

出版信息

Ann Clin Lab Sci. 2011 Fall;41(1):71-8.

Abstract

Although three-way Philadelphia (Ph) variant translocation has been uncommonly (3~8%) reported in chronic myeloid leukemia (CML), it has been even more rarely described in acute leukemias (ALs). When we reviewed the Mitelman database and the literature, we found about 595 three-way Ph variant cases; among these, only 39 three-way Ph variant translocations in AL were documented. Here, we report a novel three-way Ph variant case of t(8;9;22) in adult acute lymphoblastic leukemia (ALL). Based on bone marrow morphology, chromosome fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and flow cytometrry, this patient was diagnosed with B lymphoblastic leukemia/lymphoma associated with both t(8;9;22) (q21;q34;q11.2) and BCR/ABL1 rearrangement (e1a2 type). Because of the rarity of reported AL patients with three-way Ph variant, further studies on their prognosis and treatment response to imatinib mesylate are necessary.

摘要

尽管在慢性髓性白血病(CML)中已罕见报道(3%~8%)有三种费城(Ph)染色体变异易位,但在急性白血病(AL)中其描述更为罕见。当我们查阅米特尔曼数据库及文献时,发现约有595例三种Ph染色体变异病例;其中,仅有39例记录在AL中的三种Ph染色体变异易位。在此,我们报告一例成人急性淋巴细胞白血病(ALL)中t(8;9;22)新型三种Ph染色体变异病例。基于骨髓形态学、染色体荧光原位杂交(FISH)、逆转录聚合酶链反应(RT-PCR)及流式细胞术,该患者被诊断为与t(8;9;22)(q21;q34;q11.2)及BCR/ABL1重排(e1a2型)相关的B淋巴细胞白血病/淋巴瘤。由于报道的具有三种Ph染色体变异的AL患者罕见,因此有必要对其预后及对甲磺酸伊马替尼的治疗反应进行进一步研究。

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