PDGFRA::USP8 Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2025-02-14 DOI:10.1002/gcc.70035

Astrid I. P. Vernemmen, Léon C. L. T. van Kempen, Frits Aarts, Axel zur Hausen, Raf M. E. Sciot, Jason L. Hornick, Mari F. C. M. van den Hout

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Abstract

PDGFRA::USP8 fusions have recently been described in neoplasms in the provisional category of calcified chondroid mesenchymal neoplasm (CCMN). Here, we describe a cutaneous inflammatory myofibroblastic tumor (IMT) on the upper leg of a 24-year-old male harboring the same fusion product. The tumor showed a morphology typical of IMT, including a concomitant inflammatory infiltrate; in addition, there was strong immunohistochemical PDGFRα overexpression. Methylation profiling (Sarcoma classifier v12.2) was consistent with IMT (calibrated score 0.99). Herein, we review other soft tissue tumors with PDGFRA fusions, emphasizing PDGFRA::USP8 fusions, further highlighting the genetic pleiotropy of kinase gene fusions in soft tissue tumors. In addition, this case expands the landscape of kinase fusions in IMT, presented by an extremely rare cutaneous IMT.

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PDGFRA::USP8融合在皮肤炎症性肌成纤维肿瘤中，突出了软组织肿瘤中激酶基因融合的遗传多性

PDGFRA::USP8融合最近被描述为钙化软骨样间充质肿瘤（CCMN）的临时类别。在这里，我们描述了一例24岁男性上肢皮肤炎症性肌纤维母细胞瘤（IMT），其融合产物相同。肿瘤表现为典型的IMT形态，包括伴炎性浸润；此外，PDGFRα免疫组化表达强烈。甲基化分析（Sarcoma classifier v12.2）与IMT一致（校准评分0.99）。在此，我们回顾了其他与PDGFRA融合的软组织肿瘤，强调PDGFRA::USP8融合，进一步强调了激酶基因融合在软组织肿瘤中的遗传多性状。此外，本病例扩展了IMT中激酶融合的范围，表现为极其罕见的皮肤IMT。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.