Expanding the spectrum of tyrosine kinase fusions in calcified chondroid mesenchymal neoplasms: Identification of a novel PDGFRA::USP8 gene fusion

Author:

Fisher Yael1ORCID,Lacambra Maribel D.2ORCID,Almohsen Shahd S.1,Chow Chit2,Hornick Jason L.3,To Ka‐Fai2,Dickson Brendan C.1ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada

2. Department of Anatomical and Cellular Pathology, Prince of Wales Hospital The Chinese University of Hong Kong Shatin Hong Kong

3. Department of Pathology Brigham and Women's Hospital, Harvard Medical School Boston Massachusetts USA

Abstract

AbstractCalcified chondroid mesenchymal neoplasms represent a distinct, and recently recognized, spectrum of tumors. To date most cases have been reported to be characterized by FN1 gene fusions involving multiple potential tyrosine kinase partners. Following incidental identification of a tumor morphologically corresponding to calcified chondroid mesenchymal neoplasm, but with a PDGFRA::USP8 gene fusion, we undertook a retrospective review to identify and characterize additional such cases. A total of four tumors were identified. Each was multilobulated and composed of polygonal‐epithelioid‐stellate cells with a background of chondroid matrix containing distinctive patterns of calcification. Targeted RNA sequencing revealed an identical PDGFRA (exon 22)::USP8 (exon 5) gene fusion in each case. Subsequent immunohistochemical staining confirmed the presence of PDGFRα overexpression. In summary, we report a series of four tumors within the morphologic spectrum of calcified chondroid mesenchymal neoplasms. In contrast to prior reports, these tumors harbored a novel PDGFRA::USP8 gene fusion, rather than FN1 rearrangement. Our findings expand the molecular diversity of these neoplasms, and suggest they are united through activation of protein kinases.

Publisher

Wiley

Subject

Cancer Research,Genetics

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