Genomic alterations of dermatofibrosarcoma protuberans revealed by whole-genome sequencing.

ABSTRACT:

Background

Dermatofibrosarcoma protuberans (DFSP) is a rare and marginal cutaneous sarcoma of intermediate-grade malignancy, for which the genomic landscape remains unclear. Understanding the landscape of DFSP will help to further classify the genomic pathway of malignant development in soft tissue.

Objectives

To identify the comprehensive molecular pathogenesis of DFSP.

Methods

In this study, the comprehensive genomic features, with 53 tumour-normal pairs of DFSP, were revealed by whole-genome sequencing.

Results

The mutational signature 1 (C > T mutation at CpG dinucleotides) is featured in DFSP, resulting in higher mutations in DNA replication. Interestingly, the recurrence of DFSP is correlated with low tumour mutation burden. Novel mutation genes in DFSP w

SUBMITTER: Peng C 

PROVIDER: S-EPMC9325047 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature