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, Léon 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.
N1 - Publisher Copyright:
© 2025 The Author(s). Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
PY - 2025/2
Y1 - 2025/2
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 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.
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 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.
KW - calcified chondroid mesenchymal neoplasm
KW - genetic pleiotropy
KW - inflammatory myofibroblastic tumor
KW - kinase gene fusions
KW - methylation profiling
KW - RNA sequencing
UR - http://www.scopus.com/inward/record.url?scp=85217832034&partnerID=8YFLogxK
U2 - 10.1002/gcc.70035
DO - 10.1002/gcc.70035
M3 - Article
C2 - 39950323
AN - SCOPUS:85217832034
SN - 1045-2257
VL - 64
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
IS - 2
M1 - e70035
ER -