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伴有多种表观遗传修饰因子基因突变的母细胞性浆细胞样树突状细胞瘤:一例报告

Blastic plasmacytoid dendritic cell neoplasm with genetic mutations in multiple epigenetic modifiers: a case report.

作者信息

Dang Xinmei, Zhou Di, Meng Lingjun, Bi Lintao

机构信息

Department of Hematology and Oncology, 74569China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.

出版信息

J Int Med Res. 2021 Feb;49(2):300060520982667. doi: 10.1177/0300060520982667.

Abstract

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive hematodermic malignancy derived from plasmacytoid dendritic cell precursors. Despite advances in our understanding of tumor cell surface markers, the pathogenesis of BPDCN remains largely unknown. No standard or optimal treatments are available for BPDCN, and the prognosis is usually poor. We report herein a case of BPDCN that harbored multiple genetic mutations in epigenetic modifiers such as and . Genetic studies in patients with BPDCN may provide insights into the underlying pathogenesis, prediction of clinical prognosis, and development of better targeted therapeutics for this rare clinical entity.

摘要

母细胞样浆细胞样树突状细胞肿瘤(BPDCN)是一种罕见的侵袭性血液皮肤恶性肿瘤,起源于浆细胞样树突状细胞前体。尽管我们对肿瘤细胞表面标志物的认识有所进展,但BPDCN的发病机制仍 largely unknown。目前尚无针对BPDCN的标准或最佳治疗方法,预后通常较差。我们在此报告一例BPDCN病例,该病例在诸如 和 等表观遗传修饰因子中存在多个基因突变。对BPDCN患者进行基因研究可能有助于深入了解其潜在发病机制、预测临床预后,并为这种罕见的临床实体开发更好的靶向治疗方法。

原文中“such as and ”处内容缺失,翻译时保留原文形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5df7/7871073/ac8384105df5/10.1177_0300060520982667-fig1.jpg

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