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家族性急性早幼粒细胞白血病:一例报告并文献复习

Familial Acute Promyelocytic Leukemia: A Case Report and Review of the Literature.

作者信息

Yang Mingqi, Bai Lian, Ma Yunju, Cao Xuanqi, Cui Qingya, Wu Depei, Tang Xiaowen

机构信息

National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China.

Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, People's Republic of China.

出版信息

Onco Targets Ther. 2024 Sep 4;17:733-738. doi: 10.2147/OTT.S482781. eCollection 2024.

Abstract

Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation t (15;17) (q24;q21), which leads to the fusion of PML and RARα genes known as fusion. A few cases of potentially hereditary leukemia-related genes in APL have been reported, but no instances of familial aggregation of APL have been documented. Here, we describe a family in whom two members successively affected by APL。The potential familial association observed in these two cases of APL highlights the need for further investigation and more definitive genetic lineage tracing in order to understand the genetic basis of this disease.

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)(q24;q21),这导致了早幼粒细胞白血病基因(PML)和维甲酸受体α基因(RARα)融合,形成PML-RARα融合基因。虽然已有少数关于APL中潜在遗传性白血病相关基因的报道,但尚无APL家族聚集现象的记录。在此,我们描述了一个家族,其中两名成员先后罹患APL。在这两例APL中观察到的潜在家族关联凸显了进一步研究以及更明确的遗传谱系追踪的必要性,以便了解该疾病的遗传基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7aeb/11380871/bfd48d3fc100/OTT-17-733-g0001.jpg

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