家族性急性早幼粒细胞白血病：病例报告和文献综述。

IF 2.7 4区医学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY OncoTargets and therapy Pub Date : 2024-09-04 eCollection Date: 2024-01-01 DOI:10.2147/OTT.S482781

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

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引用次数: 0

摘要

急性早幼粒细胞白血病（APL）的特征是t(15;17) (q24;q21)互变，导致PML和RARα基因融合，称为PML-RARα融合。已有一些关于 APL 潜在遗传性白血病相关基因的病例报道，但还没有关于 APL 家族聚集性病例的记录。在这里，我们描述了一个家族中两名成员相继罹患 APL 的情况。在这两例 APL 病例中观察到的潜在家族关联性突出表明，为了了解这种疾病的遗传基础，有必要进行进一步调查和更明确的遗传系谱追踪。

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

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 PML-RARα 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.

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来源期刊

OncoTargets and therapy BIOTECHNOLOGY & APPLIED MICROBIOLOGY-ONCOLOGY

CiteScore

9.70

自引率

0.00%

发文量

221

审稿时长

1 months

期刊介绍： OncoTargets and Therapy is an international, peer-reviewed journal focusing on molecular aspects of cancer research, that is, the molecular diagnosis of and targeted molecular or precision therapy for all types of cancer. The journal is characterized by the rapid reporting of high-quality original research, basic science, reviews and evaluations, expert opinion and commentary that shed novel insight on a cancer or cancer subtype. Specific topics covered by the journal include: -Novel therapeutic targets and innovative agents -Novel therapeutic regimens for improved benefit and/or decreased side effects -Early stage clinical trials Further considerations when submitting to OncoTargets and Therapy: -Studies containing in vivo animal model data will be considered favorably. -Tissue microarray analyses will not be considered except in cases where they are supported by comprehensive biological studies involving multiple cell lines. -Biomarker association studies will be considered only when validated by comprehensive in vitro data and analysis of human tissue samples. -Studies utilizing publicly available data (e.g. GWAS/TCGA/GEO etc.) should add to the body of knowledge about a specific disease or relevant phenotype and must be validated using the authors’ own data through replication in an independent sample set and functional follow-up. -Bioinformatics studies must be validated using the authors’ own data through replication in an independent sample set and functional follow-up. -Single nucleotide polymorphism (SNP) studies will not be considered.