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

IF 1.4 4区医学 Q4 GENETICS & HEREDITY Cancer Genetics Pub Date : 2024-08-01 DOI:10.1016/j.cancergen.2024.07.003

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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).

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APL 的复杂 t(15;22;17)(q22;q11.2;q21)变体

本研究描述了一例极其罕见的急性早幼粒细胞白血病（APL）病例，其特征是复杂的三向（15;22;17）（q22;q11.2;q21）易位。急性早幼粒细胞白血病（APL）是急性髓细胞白血病的一种特殊亚型，具有独特的临床和治疗特点。除了以t(15;17)(q22;q12)易位为特征外，该亚型对全反式维甲酸（ATRA）治疗的反应也很显著。APL 对 ATRA 和化疗药物的联合治疗反应强烈，完全缓解率超过 90%，长期缓解率超过 80%。在本病例中，一名79岁的男性患者主诉虚弱、乏力和瘀斑皮疹，除糖尿病和高血压外无其他重要病史。常规细胞遗传学方法、双色双融合和双色断裂荧光原位杂交技术共同确定了t（15;22;17）易位。对PML/RARA融合转录本的表达进行了RT-PCR分析。该患者被诊断为 APL，对全反式维甲酸（ATRA）和依达比星治疗有完全反应。在本文中，我们介绍了第二例记录在案的t(15;22;17)病例，并探讨了使用全反式维甲酸（ATRA）治疗后观察到的显著缓解。

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

期刊介绍： The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.