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

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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Publication Details

Journal
Genes Chromosomes and Cancer
Published
2025-02-01
DOI
https://doi.org/10.1002/gcc.70035
Citations
3
Primary Topic
IgG4-Related and Inflammatory Diseases
Type
article
Field-Weighted Citation Impact
5.00

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article

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

Axel zur Hausen, Mari F.C.M. van den Hout, Léon C.L.T. van Kempen, Astrid I. P. Vernemmen et al.
3 citations
Genes Chromosomes and Cancer
IgG4-Related and Inflammatory Diseases
5.00
article

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

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

Abstract

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.

Genes Chromosomes and CancerVol. 64(2)
Brigham and Women's Hospital (US), University Medical Center Groningen (NL), Harvard University (US), University of Antwerp (BE), University of Groningen (NL), Maastricht University (NL), Antwerp University Hospital (BE), VieCuri Medisch Centrum (NL), KU Leuven (BE)
Universiteit Maastricht, University of Toronto, Maastricht Universitair Medisch Centrum
Openalex Percentile: Top 6%
IgG4-Related and Inflammatory Diseases
5.00
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<i>PDGFRA::USP8</i> Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms — Axel zur Hausen, Mari F.C.M. van den Hout, et al. · Genes Chromosomes and Cancer (2025) | TGRS Research Map | TGRS