伴有COL1A1::PDGFB融合和并发TP53/ERBB2突变的子宫纤维肉瘤性皮肤纤维肉瘤（FS-DFSP）：病例报告和分子表征

IF 3.2 4区医学 Q2 PATHOLOGY

Pathology, research and practice Pub Date : 2025-08-05 DOI:10.1016/j.prp.2025.156149

Jinchuan Yu , Haiyan Shi , Bingjian Lu

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引用次数: 0

摘要

子宫隆突性皮肤纤维肉瘤（DFSP）与COL1A1::PDGFB融合是一种非常罕见的肉瘤，其高级别变体仍然缺乏特征。我们报告了一名39岁的中国女性患有高级别子宫肉瘤，其形态特征为纤维肉瘤性DFSP (FS-DFSP)，包括梭形细胞呈故事状和人字形排列，局灶性肌样/上皮样分化，以及黏液样改变。免疫组织化学显示CD34表达变化，局灶性desmin/SMA阳性，p53异常过表达。靶向下一代测序鉴定出COL1A1-PDGFB （C5:P2）融合，致病性TP53 (c.832 C>；G；p.P278A)和ERBB2 (c.2524 G>；A；p.V842I)突变。双色荧光原位杂交证实COL1A1-PDGFB融合。这是首次报道高级别子宫DFSP并发TP53和ERBB2突变，扩大了该实体的分子谱，并提示在侵袭性病例中双重PDGFR/HER2抑制的潜在治疗意义。

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Uterine fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) with COL1A1::PDGFB fusion and concurrent TP53/ERBB2 mutations: Case report and molecular characterization

Uterine dermatofibrosarcoma protuberans (DFSP) with COL1A1::PDGFB fusion is an exceptionally rare sarcoma, and its high-grade variant remains poorly characterized. We reported a 39-year-old Chinese woman with a high-grade uterine sarcoma exhibiting morphological features of fibrosarcomatous DFSP (FS-DFSP), including spindle cells arranged in storiform and herringbone patterns, focal myoid/epithelioid differentiation, and myxoid changes. Immunohistochemistry revealed variable CD34 expression, focal desmin/SMA positivity, and aberrant p53 overexpression. Targeted next-generation sequencing identified a COL1A1-PDGFB (C5:P2) fusion, a pathogenic TP53 (c.832 C>G; p.P278A) and ERBB2 (c.2524 G>A; p.V842I) mutation. Dual-color fluorescence in situ hybridization confirmed COL1A1-PDGFB fusion. This represented the first report of high-grade uterine DFSP with concurrent TP53 and ERBB2 mutations, expanding the molecular spectrum of this entity and suggesting potential therapeutic implications for dual PDGFR/HER2 inhibition in aggressive cases.

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来源期刊

Pathology, research and practice 医学-病理学

CiteScore

5.00

自引率

3.60%

发文量

405

审稿时长

24 days

期刊介绍： Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.