부산대학교 도서관

Https://doi.org/10.1093/bjd/ljac138 Dear Editor, Cutaneous leiomyosarcoma (cLMS) is a rare soft tissue sarcoma where the genetic drivers implicated in carcinogenesis are not completely characterized despite extensive genomic profiling.[1] The presentation of cLMS in Birt-Hogg-Dubé (BHD) syndrome, which is caused by heterozygous pathogenic variants in the folliculin ( I FLCN i ) gene,[2] adds to our mechanistic understanding of the pathogenesis of cLMS and implicates I FLCN i loss. Primary cutaneous leiomyosarcoma arising in a patient with Li-Fraumeni syndrome: a neoplasm with unusual histopathologic features and loss of heterozygosity at TP53 gene. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. [Extracted from the article]