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肌内腱鞘巨细胞瘤伴新型融合转录本。

Intramuscular Tenosynovial Giant Cell Tumor Harboring a Novel Fusion Transcript.

机构信息

9968University of Alabama at Birmingham, Birmingham, AL, USA.

出版信息

Int J Surg Pathol. 2022 May;30(3):335-338. doi: 10.1177/10668969211049833. Epub 2021 Oct 16.

Abstract

Tenosynovial giant cell tumors typically arise in the synovium of joints, bursae, or tendon sheaths. They may occur in an intra- or extra-articular location and can be divided into localized and diffuse types. The neoplastic nature of the lesion has been supported by a recurrent gene rearrangement in a small subset of lesional cells, of which the most common fusion partner is . Herein, we report a case of intramuscular localized tenosynovial giant cell tumor harboring a novel fusion transcript, thus expanding the molecular profile of this tumor.

摘要

腱鞘巨细胞瘤通常发生在关节、滑囊或腱鞘的滑膜中。它们可以发生在关节内或关节外的位置,并可以分为局限性和弥漫性两种类型。病变的肿瘤性质得到了一小部分病变细胞中反复出现的基因重排的支持,其中最常见的融合伙伴是 。在此,我们报告一例肌内局限性腱鞘巨细胞瘤,其含有一种新型的 融合转录本,从而扩展了这种肿瘤的分子谱。

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