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病例报告:急性早幼粒细胞白血病中一种新型基因融合与[此处原文缺失相关内容]共存。

Case Report: Co-existence of a novel gene fusion with in acute promyelocytic leukemia.

作者信息

Liu Xiaodong, Li Wanting, Xiao Jian, Zhong Huixiu, Yang Kun

机构信息

Department of Hematology, Zigong First People's Hospital, Zigong, China.

Department of Laboratory Medicine, Zigong First People's Hospital, Zigong, China.

出版信息

Front Oncol. 2023 Apr 21;13:1165819. doi: 10.3389/fonc.2023.1165819. eCollection 2023.

Abstract

Acute promyelocytic leukemia (APL) is a type of myeloid leukemia with a specific chromosomal translocation t(15;17)(q22; q12) forming the fusion gene. However, approximately one third of newly diagnosed patients with APL have additional chromosomal abnormalities. Here, we report a case of APL with co-existence of a novel translocation t(7;12)(q32;q13) involving an out-of-frame fusion between and , together with . The patient achieved complete remission after treatment with conventional therapy with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). Although the causative link between and has yet to be established, the patient had a good response to therapy, suggesting that the fusion does not affect the efficacy of combined treatment with ATRA and ATO.

摘要

急性早幼粒细胞白血病(APL)是一种髓系白血病,具有特定的染色体易位t(15;17)(q22;q12),形成融合基因。然而,大约三分之一新诊断的APL患者存在额外的染色体异常。在此,我们报告一例APL病例,其同时存在一种新的易位t(7;12)(q32;q13),涉及与 之间的框外融合,以及 。该患者在接受全反式维甲酸(ATRA)和三氧化二砷(ATO)的传统治疗后实现了完全缓解。尽管 与 之间的因果联系尚未确立,但该患者对治疗反应良好,表明 融合并不影响ATRA和ATO联合治疗的疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80f7/10160461/cf1d0ba0bb39/fonc-13-1165819-g001.jpg

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