在黄疽上皮瘤/角蛋白阳性巨细胞瘤中发现新型 HMGA2::COL14A1 融合体

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2024-11-18 DOI:10.1002/gcc.70010

Carina A. Dehner, Darya Buehler, Christopher Hofich, Kevin C. Halling, Andrew L. Folpe

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引用次数: 0

摘要

黄疽性上皮细胞瘤（XGET）/角蛋白阳性巨细胞瘤（KP-GCT）是最近描述的一种肿瘤，其特征是在破骨细胞样巨细胞、混合炎症细胞和不同程度的黄疽成分的背景下，表达角蛋白的独特单核细胞增生。最近的研究表明，在许多病例中都存在 HMGA2::NCOR2 融合。我们在此描述了一例XGET/KP-GCT病例，该病例发生在一名19岁男性的右侧股骨头，并伴有罕见的新型HMGA2::COL14A1融合。

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Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin-Positive Giant Cell Tumor

Xanthogranulomatous epithelial tumor (XGET)/Keratin-positive giant cell tumor (KP-GCT) represents a spectrum of recently described neoplasms characterized by a proliferation of distinctive mononuclear cells expressing keratin within a background of osteoclast-like giant cells, mixed inflammatory cells, and a variably prominent xanthogranulomatous component. Recent studies demonstrated a recurrent HMGA2::NCOR2 fusion in many cases. We herein describe a case of XGET/KP-GCT arising in the right femoral head of a 19-year-old male harboring a rare novel HMGA2::COL14A1 fusion.

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

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.