A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutations.

Human Pathology
Timothy I MillerPaul W Harms

Abstract

Sarcomas on photodamaged skin vary in prognosis and management, but can display overlapping microscopic and immunophenotypic features. Improved understanding of molecular alterations in these tumors may provide diagnostic and therapeutic insights. We characterized 111 cutaneous sarcomatoid malignancies and their counterparts, including primary cutaneous angiosarcoma (n = 7), atypical fibroxanthoma (AFX) (n = 21), pleomorphic dermal sarcoma (PDS) (n = 17), extracutaneous undifferentiated pleomorphic sarcoma (n = 8), cutaneous leiomyosarcoma (LMS) (n = 5), extracutaneous LMS (n = 9), sarcomatoid squamous cell carcinoma (spindle cell squamous cell carcinoma) (S-SCC) (n = 24), and conventional cutaneous squamous cell carcinoma (SCC) (n = 20), by next-generation sequencing (NGS) using the StrataNGS panel for copy number variations, mutations, and/or fusions in more than 60 cancer-related genes. TP53 mutations were highly recurrent in most groups. Angiosarcoma displayed previously reported MYC amplifications, as well as CCND1 gains. RB1 mutations were relatively restricted to cutaneous LMS. As previously reported, PIK3CA mutations occurred in AFX, whereas RAS activation was more frequent in PDS. CDKN2A mutations were recurrent in AFX...Continue Reading

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Citations

Mar 7, 2021·Journal of Cutaneous Pathology·Jina ChungJason B Lee
Feb 7, 2021·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Kelly L HarmsPaul W Harms
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Oct 2, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Paul W HarmsAndrzej A Dlugosz
Nov 30, 2021·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Minggui PanLaurel A Habel

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