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APL 中一种复杂的 t(15;22;17)(q22;q11.2;q21) 变体。

A complex t(15;22;17)(q22;q11.2;q21) variant of APL.

机构信息

Ege University Hospital, Department of Medical Genetics, Izmir 35100, Turkey.

Ege University Hospital, Department of Medical Genetics, Izmir 35100, Turkey.

出版信息

Cancer Genet. 2024 Aug;286-287:48-51. doi: 10.1016/j.cancergen.2024.07.003. Epub 2024 Jul 24.

Abstract

The present study described an extremely rare case of acute promyelocytic leukemia (APL) characterized by a complex three‑way (15;22;17)(q22;q11.2;q21) translocation. Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia with distinctive clinical and therapeutic characteristics. Besides being characterized by the t(15;17)(q22;q12) translocation, this subtype is also notable for its response to all-trans-retinoic acid (ATRA) treatment. APL is highly responsive to a combination of ATRA and chemotherapeutic agents, achieving over 90 % complete remission rates and over 80 % long-term remission rates. In this case, a 79-year-old male patient presented with complaints of weakness, fatigue, and petechial rash, with no other significant medical history except for diabetes mellitus and hypertension. Conventional cytogenetic methods, dual-color dual-fusion, and dual-color break-apart fluorescent in situ hybridization techniques together identified the t(15;22;17) translocation. RT-PCR analysis was performed for expression of PML/RARA fusion transcripts. The patient, diagnosed with APL, exhibited a complete response to all-trans retinoic acid (ATRA) and idarubicin treatment. In this paper, we present the second documented case of t(15;22;17) and explore the remarkable remission observed following treatment with All-Trans Retinoic Acid (ATRA).

摘要

本研究描述了一例极罕见的伴有复杂三向易位(15;22;17)(q22;q11.2;q21)的急性早幼粒细胞白血病(APL)病例。急性早幼粒细胞白血病(APL)是一种具有独特临床和治疗特征的急性髓系白血病特定亚型。除了具有 t(15;17)(q22;q12)易位外,该亚型还以对全反式维甲酸(ATRA)治疗的反应为特征。APL 对 ATRA 和化疗药物的联合治疗高度敏感,完全缓解率超过 90%,长期缓解率超过 80%。在本例中,一名 79 岁男性患者因乏力、疲劳和瘀斑就诊,除了糖尿病和高血压外,无其他重大病史。常规细胞遗传学方法、双色双融合和双色分离荧光原位杂交技术共同确定了 t(15;22;17)易位。进行 RT-PCR 分析以检测 PML/RARA 融合转录本的表达。该患者被诊断为 APL,对全反式维甲酸(ATRA)和伊达比星治疗有完全反应。本文报告了第二例 t(15;22;17)病例,并探讨了 ATRA 治疗后观察到的显著缓解。

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