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荧光杂交证实急性早幼粒细胞白血病中的复杂易位(3;17;15)

A complex translocation (3;17;15) in acute promyelocytic leukemia confirmed by fluorescence hybridization.

作者信息

Wang Yanming, Ma Junjie, Liu Xinguang, Liu Riming, Xu Lingling, Wang Li, Cen Jiannong, Chu Xiaoxia

机构信息

Department of Hematology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China; Department of Hematology, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China.

Department of Hematology, Yantai Yuhuangding Hospital, Yantai, Shandong 264000, P.R. China.

出版信息

Oncol Lett. 2016 Dec;12(6):4717-4719. doi: 10.3892/ol.2016.5280. Epub 2016 Oct 18.

DOI:10.3892/ol.2016.5280
PMID:28101221
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5228300/
Abstract

Acute promyelocytic leukemia (APL) is typified by t(15;17)(q22;q21), generating the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The PML-RARA fusion gene is believed to play a vital role in leukemogenesis. A sizeable minority of patients with complex variants of APL have been reported. The present study reports the case of a 33-year-old male with APL carrying a potential complex translocation. The initial symptom was bleeding gums. Chromosomal analysis of the bone marrow cells revealed an atypical 17q aberration. Fluorescence hybridization further indicated that 92% of analyzed cells were positive for the PML-RARA fusion gene. The patient experienced complete remission following treatment with arsenic trioxide and chemotherapy. The atypical translocations in acute promyelocytic leukemia require further investigation.

摘要

急性早幼粒细胞白血病(APL)的典型特征是t(15;17)(q22;q21),在15q22产生早幼粒细胞白血病(PML)基因,在17q21产生维甲酸α受体(RARA)基因。PML-RARA融合基因被认为在白血病发生中起关键作用。据报道,相当一部分APL复杂变异型患者存在这种情况。本研究报告了1例携带潜在复杂易位的33岁男性APL患者。最初症状为牙龈出血。对骨髓细胞进行染色体分析发现17号染色体存在非典型畸变。荧光杂交进一步表明,92%的分析细胞PML-RARA融合基因呈阳性。该患者经三氧化二砷和化疗后实现完全缓解。急性早幼粒细胞白血病中的非典型易位需要进一步研究。

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Cytogenetic and molecular characterization of complex three-way translocations in acute promyelocytic leukemia.急性早幼粒细胞白血病中复杂三向易位的细胞遗传学和分子特征
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