cd34阳性的肢端软骨粘液样间充质肿瘤含有一种新的TCF4::ERG融合

IF 2.8 2区 医学 Q2 GENETICS & HEREDITY
Eric C. Honaker, Laura M. Warmke, Ameline Baptiste, Daniel Baumhoer, Esther Baranov, Eitan Halper-Stromberg, Carina A. Dehner
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引用次数: 0

摘要

在过去的几十年里,分子检测极大地改变了解剖病理学领域。尽管取得了这些进展,肢端间充质肿瘤的诊断仍然具有挑战性,需要仔细结合临床表现、组织学特征和分子发现进行准确分类。在此,我们报告一例涉及26岁女性右手食指的肢端软骨黏液样间充质肿瘤伴新型框架内TCF4::ERG融合。形态学上,该肿瘤由嵌在软骨粘液样基质和透明胶原背景中的巢状和单调的小圆形到卵形细胞片组成。肿瘤细胞弥漫性CD34、ERG、局灶性p63阳性,S100蛋白、细胞角蛋白AE1/AE3、Pan-TRK、ALK、平滑肌肌动蛋白、desmin阴性。虽然随访时间较短(3个月),但患者情况良好,无转移或局部复发迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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.

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来源期刊
Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer 医学-遗传学
CiteScore
7.00
自引率
8.10%
发文量
94
审稿时长
4-8 weeks
期刊介绍: Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.
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