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

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

doi:10.1002/gcc.70035

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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 PDGFR alpha 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.

Original language	English
Article number	e70035
Number of pages	7
Journal	Genes Chromosomes & Cancer
Volume	64
Issue number	2
DOIs	https://doi.org/10.1002/gcc.70035
Publication status	Published - 1 Feb 2025

Keywords

calcified chondroid mesenchymal neoplasm
genetic pleiotropy
inflammatory myofibroblastic tumor
kinase gene fusions
methylation profiling
RNA sequencing
MOLECULAR CHARACTERIZATION
RECEPTOR
HEAD
ROS1
ALK

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Vernemmen, A. I. P., van Kempen, L. C. L. T., Aarts, F., zur Hausen, A., Sciot, R. M. E., Hornick, J. L., & van den Hout, M. F. C. M. (2025). PDGFRA::USP8 Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms. Genes Chromosomes & Cancer, 64(2), Article e70035. https://doi.org/10.1002/gcc.70035

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

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 PDGFR alpha 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.",

keywords = "calcified chondroid mesenchymal neoplasm, genetic pleiotropy, inflammatory myofibroblastic tumor, kinase gene fusions, methylation profiling, RNA sequencing, MOLECULAR CHARACTERIZATION, RECEPTOR, HEAD, ROS1, ALK",

author = "Vernemmen, {Astrid I. P.} and {van Kempen}, {Leon C. L. T.} and Frits Aarts and {zur Hausen}, Axel and Sciot, {Raf M. E.} and Hornick, {Jason L.} and {van den Hout}, {Mari F. C. M.}",

year = "2025",

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day = "1",

doi = "10.1002/gcc.70035",

language = "English",

volume = "64",

journal = "Genes Chromosomes & Cancer",

issn = "1045-2257",

publisher = "Wiley-Liss Inc.",

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PDGFRA::USP8 Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms. / Vernemmen, Astrid I. P.; van Kempen, Leon C. L. T.; Aarts, Frits et al.
In: Genes Chromosomes & Cancer, Vol. 64, No. 2, e70035, 01.02.2025.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - PDGFRA::USP8 Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms

AU - Vernemmen, Astrid I. P.

AU - van Kempen, Leon C. L. T.

AU - Aarts, Frits

AU - zur Hausen, Axel

AU - Sciot, Raf M. E.

AU - Hornick, Jason L.

AU - van den Hout, Mari F. C. M.

PY - 2025/2/1

Y1 - 2025/2/1

N2 - 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 PDGFR alpha 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.

AB - 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 PDGFR alpha 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.

KW - calcified chondroid mesenchymal neoplasm

KW - genetic pleiotropy

KW - inflammatory myofibroblastic tumor

KW - kinase gene fusions

KW - methylation profiling

KW - RNA sequencing

KW - MOLECULAR CHARACTERIZATION

KW - RECEPTOR

KW - HEAD

KW - ROS1

KW - ALK

U2 - 10.1002/gcc.70035

DO - 10.1002/gcc.70035

M3 - Article

SN - 1045-2257

VL - 64

JO - Genes Chromosomes & Cancer

JF - Genes Chromosomes & Cancer

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M1 - e70035

ER -

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

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Keywords

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