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伴有FLT3-ITD突变的急性早幼粒细胞白血病中的新型三向变异t(6;17;15)(p21;q21;q22):一例报告

The novel three-way variant t(6;17;15)(p21;q21;q22) in acute promyelocytic leukemia with an FLT3-ITD mutation: A case report.

作者信息

Zhang Yong-Lu, Jiang Mei, Luan Shu-Qing, Liu Shu-Yuan, Wan Jin-Hua, Wan La-Gen, Zhang Zhang-Lin

机构信息

Department of Clinical Laboratory, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, P.R. China.

出版信息

Oncol Lett. 2018 Nov;16(5):6121-6125. doi: 10.3892/ol.2018.9413. Epub 2018 Sep 6.

Abstract

Acute promyelocytic leukemia (APL) is characterized by the reciprocal translocation t(15;17)(q22;q21), resulting in the fusion of the promyelocytic leukemia gene at 15q22 with the retinoic acid receptor α at 17q21. Additionally, all patients with APL who have additional chromosome abnormalities (ACA) and gene mutations are resistant to all-trans retinoic acid (ATRA), the drug that causes disease regression specifically in patients with APL globally. The present study describes a case of a 19-year-old female with APL carrying a novel complex variant translocation t(6;17;15)(p21;q21;q22), add(7)(q32) and an FMS-related tyrosine kinase 3 internal tandem duplication (FLT3-ITD) mutation. Complete remission was attained following a course of chemotherapy with ATRA and arsenic trioxide. To the best of our knowledge, this is the first report of a novel three-way translocation of 6p21 and a FLT3-ITD mutation involved with APL.

摘要

急性早幼粒细胞白血病(APL)的特征是15号和17号染色体相互易位t(15;17)(q22;q21),导致位于15q22的早幼粒细胞白血病基因与位于17q21的维甲酸受体α融合。此外,所有患有急性早幼粒细胞白血病且伴有额外染色体异常(ACA)和基因突变的患者对全反式维甲酸(ATRA)耐药,而ATRA是一种能使全球范围内的急性早幼粒细胞白血病患者病情缓解的药物。本研究描述了一例19岁女性急性早幼粒细胞白血病患者,该患者携带一种新的复杂变异易位t(6;17;15)(p21;q21;q22)、7号染色体附加(add(7)(q32))以及FMS相关酪氨酸激酶3内部串联重复(FLT3-ITD)突变。在接受全反式维甲酸和三氧化二砷化疗后达到完全缓解。据我们所知,这是首例关于6p21新的三向易位和FLT3-ITD突变与急性早幼粒细胞白血病相关的报道。

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