携带新型 SREBF1::USP6 融合基因的帕尔默结节性筋膜炎

IF 0.9 4区 医学 Q4 PATHOLOGY International Journal of Surgical Pathology Pub Date : 2024-12-01 Epub Date: 2024-02-02 DOI:10.1177/10668969241229330
Haider A Mejbel, Gene P Siegal, Shi Wei
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引用次数: 0

摘要

尖锐湿疣部位的低度纤维母细胞瘤/肌纤维母细胞瘤的诊断具有挑战性。这些肿瘤包括多种多样的肿瘤,具有从良性到明显恶性的生物潜能谱。它们往往在临床、放射学和免疫表型上表现出明显的重叠,其中分子表型可能在最终诊断中起到重要的诊断作用。在此,我们报告了一例成年患者手掌软组织肿块病变,病程长达四个月。组织学上,肿瘤主要由表达平滑肌肌动蛋白的低级纺锤形细胞组成。分子检测发现了一种新型的 SREBF1::USP6 融合基因,从而确诊为结节性筋膜炎,并最终扩展了其分子特征。该病例凸显了单一、经济、有针对性的分子检测对准确诊断的诊断价值,并提供了有用的治疗信息。
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Palmar Nodular Fasciitis Harboring a Novel SREBF1::USP6 Fusion Gene.

The diagnosis of low-grade fibroblastic/myofibroblastic tumors of acral sites can be challenging. These tumors encompass a diverse group of neoplasms with a spectrum of biologic potential ranges from benign to overtly malignant. They often demonstrate significant clinical, radiologic, and immunophenotypic overlap, in which the molecular phenotype may play an important diagnostic role to arrive at the final diagnosis. Herein, we report a case of soft tissue mass lesion presented on the palm of an adult patient for four months. Histologically, the tumor consisted of primarily low-grade spindle cells expressing smooth muscle actin. Molecular testing revealed a novel SREBF1::USP6 fusion gene, confirming the final diagnosis of nodular fasciitis and ultimately expanding its molecular profile. This case highlights the diagnostic value of single, cost-effective, targeted molecular panel to arrive at an accurate diagnosis and provide helpful therapeutic information.

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来源期刊
CiteScore
2.10
自引率
0.00%
发文量
198
审稿时长
1 months
期刊介绍: International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).
期刊最新文献
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