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伴有基因分析的皮肤结节性筋膜炎:病例系列

Cutaneous nodular fasciitis with genetic analysis: a case series.

作者信息

Kumar Erica, Patel Nimesh R, Demicco Elizabeth G, Bovee Judith V M G, Olivera Andre M, Lopez-Terrada Dolores H, Billings Steven D, Lazar Alexander J, Wang Wei-Lien

机构信息

Department of Pathology, Regional Medical Laboratory, Tulsa, OK, USA.

Department of Pathology and Laboratory Medicine, Rhode Island Hospital, Brown University, Providence, USA.

出版信息

J Cutan Pathol. 2016 Dec;43(12):1143-1149. doi: 10.1111/cup.12828.

Abstract

Nodular fasciitis is a benign self-limited myofibroblastic neoplasm, which usually involves the upper extremities and trunk of young patients. These tumors have been shown to harbor a translocation involving the MYH9 and USP6 genes, leading to overexpression of the latter. We report seven cases of nodular fasciitis with cutaneous presentations. All cases involved the dermis, with six involving the superficial subcutis, and one auricular tumor extending into cartilage. All cases showed USP6 rearrangement by fluorescence in situ hybridization; in two of three cases, the characteristic MYH9-USP6 fusion was shown by RT-PCR. All patients underwent conservative resection. Nodular fasciitis is an uncommon mesenchymal neoplasm that can occasionally present in superficial locations and is sometimes mistaken for a malignant process. Molecular testing can be useful to distinguish this entity from other cutaneous spindle cell tumors.

摘要

结节性筋膜炎是一种良性自限性肌成纤维细胞肿瘤,通常累及年轻患者的上肢和躯干。这些肿瘤已被证明存在涉及MYH9和USP6基因的易位,导致后者过度表达。我们报告了7例有皮肤表现的结节性筋膜炎病例。所有病例均累及真皮,其中6例累及皮下浅层,1例耳部肿瘤延伸至软骨。所有病例通过荧光原位杂交显示USP6重排;在3例中的2例中,逆转录聚合酶链反应显示出特征性的MYH9-USP6融合。所有患者均接受了保守性切除。结节性筋膜炎是一种罕见的间叶性肿瘤,偶尔可出现在浅表部位,有时会被误诊为恶性病变。分子检测有助于将该实体与其他皮肤梭形细胞肿瘤区分开来。

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