Primary Cutaneous Spindle Cell Sarcoma With FN1::FGFR1 Fusion

IF 1.1 4区 医学 Q3 DERMATOLOGY
Ahmed Shah, Ying-Chun Lo, Jorge Torres-Mora
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引用次数: 0

Abstract

We report a case of a primary cutaneous spindle cell sarcoma (SCS) with FN1::FGFR1 fusion. The tumor lacked the typical histologic and immunohistochemical features associated with other FN1-rearranged neoplasms, such as phosphaturic mesenchymal tumors (PMT) and calcified chondroid mesenchymal neoplasms (CCMN). Unlike PMTs, which often feature a cartilaginous matrix and are associated with tumor-induced osteomalacia (TIO), the present case lacked these characteristics and did not show FGF23 mRNA expression. Immunohistochemically, the tumor cells showed patchy staining for CD34 but were negative for markers such as ERG, desmin, S100, and pan-TRK. The fusion event in this case involves the loss of the FGFR1 Ig1 (D1) domain, a mechanism proposed to drive oncogenesis by releasing FGFR1 from autoinhibition. Despite the preservation of other FGFR1 domains, no evidence of FGF23 signaling was detected, and the patient had no clinical history of TIO. This case underscores the complexity of oncogenesis in FN1::FGFR1-rearranged neoplasms, a form of “promiscuous” gene fusion, where similar fusions lead to diverse tumor phenotypes. It emphasizes the importance of incorporating molecular testing in diagnosing spindle cell sarcomas, particularly those occurring in acral sites, to identify this underrecognized entity.

原发性皮肤梭形细胞肉瘤伴FN1::FGFR1融合。
我们报告一例伴有FN1::FGFR1融合的原发性皮肤梭形细胞肉瘤(SCS)。该肿瘤缺乏与其他fn1重排肿瘤(如磷化间充质肿瘤(PMT)和钙化软骨样间充质肿瘤(CCMN))相关的典型组织学和免疫组织化学特征。与pmt不同,pmt通常以软骨基质为特征,并与肿瘤诱导的骨软化症(TIO)相关,本病例缺乏这些特征,也没有显示fgf23mrna表达。免疫组化结果显示,肿瘤细胞CD34呈斑片状染色,但ERG、desmin、S100、pan-TRK等标志物均为阴性。在这种情况下,融合事件涉及FGFR1 Ig1 (D1)结构域的丢失,这是一种通过释放FGFR1自抑制来驱动肿瘤发生的机制。尽管保留了其他FGFR1结构域,但未检测到FGF23信号传导的证据,并且患者没有TIO的临床病史。该病例强调了FN1:: fgfr1重排肿瘤发生的复杂性,这是一种“混杂”基因融合的形式,其中相似的融合导致不同的肿瘤表型。它强调了结合分子检测诊断梭形细胞肉瘤的重要性,特别是那些发生在肢端部位,以确定这种未被认识的实体。
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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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