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携带新型TCF4::ERG融合基因的CD34阳性肢端软骨黏液样间叶肿瘤

CD34-Positive Acral Chondromyxoid Mesenchymal Neoplasm Harboring a Novel TCF4::ERG Fusion.

作者信息

Honaker Eric C, Warmke Laura M, Baptiste Ameline, Baumhoer Daniel, Baranov Esther, Halper-Stromberg Eitan, Dehner Carina A

机构信息

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Bone Tumor Reference Center at the Institute of Medical Genetics and Pathology, University Hospital and University of Basel, Basel, Switzerland.

出版信息

Genes Chromosomes Cancer. 2025 Jul;64(8):e70073. doi: 10.1002/gcc.70073.

Abstract

Molecular testing has significantly transformed the field of anatomic pathology over the past several decades. Despite these advances, acral mesenchymal neoplasms remain diagnostically challenging, requiring careful integration of clinical presentation, histologic features, and molecular findings for accurate classification. Herein, we present a case of an acral chondromyxoid mesenchymal neoplasm harboring a novel in-frame TCF4::ERG fusion involving the right index finger of a 26-year-old female. Morphologically, this tumor consisted of nests and sheets of monotonous small round-to-ovoid cells embedded in a background of chondromyxoid stroma and hyalinized collagen. The tumor cells were diffusely CD34, ERG, and focally p63 reactive, while S100 protein, cytokeratin AE1/AE3, Pan-TRK, ALK, smooth muscle actin, and desmin were negative. Albeit short follow-up (3 months), the patient continues to do well without evidence of metastasis or local recurrence.

摘要

在过去几十年中,分子检测显著改变了解剖病理学领域。尽管取得了这些进展,但肢端间叶肿瘤的诊断仍具有挑战性,需要仔细整合临床表现、组织学特征和分子学发现以进行准确分类。在此,我们报告一例发生于一名26岁女性右手示指的肢端软骨黏液样间叶肿瘤,该肿瘤存在一种新的框内TCF4::ERG融合。形态学上,该肿瘤由巢状和片状的单调小圆形至卵圆形细胞组成,嵌入软骨黏液样基质和玻璃样变胶原的背景中。肿瘤细胞弥漫性表达CD34、ERG,局灶性表达p63,而S100蛋白、细胞角蛋白AE1/AE3、泛TRK、ALK、平滑肌肌动蛋白和结蛋白均为阴性。尽管随访时间较短(3个月),但患者情况良好,无转移或局部复发迹象。

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