24Apr 2022
Genomic alterations of dermatofibrosarcoma protuberans revealed by whole‐genome sequencing

Genomic alterations of dermatofibrosarcoma protuberans revealed by whole‐genome sequencing

Dermatofibrosarcoma protuberans (DFSP) is a rare and marginal cutaneous sarcoma of intermediate‐grade malignancy, for which the genomic landscape remains unclear. In this study, the comprehensive genomic features, with 53 tumour‐normal pairs of DFSP, were revealed by whole‐genome sequencing. The mutational signature 1 (C > T mutation at CpG dinucleotides) is featured in DFSP, resulting in higher mutations in DNA replication. Novel mutation genes in DFSP were identified, including MUC4/6, KMT2C and BRCA1, and subsequently, three molecular subtypes of DFSP were classified based on MUC4 and MUC6 mutations. This is the first large‐scale whole‐genome sequencing for DFSP, and our findings describe the comprehensive genomic landscape, highlighting the molecular complexity and aberrations of DFSP. The results also provide novel potential diagnostic and therapeutic targets for this disease.

  • #dermatology

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