Cutaneous leiomyosarcoma in a case of hereditary leiomyomatosis and renal cell carcinoma syndrome.

Autor:	O'Connor M; Dermatology, NHS Greater Glasgow and Clyde, Glasgow, UK miriam.oconnor@nhs.scot., Paul M; Pathology Department, Queen Elizabeth University Hospital, Glasgow, UK., Wylie G; Dermatology Department, Queen Elizabeth University Hospital, Glasgow, UK.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2024 Aug 22; Vol. 17 (8). Date of Electronic Publication: 2024 Aug 22.
DOI:	10.1136/bcr-2024-261618
Abstrakt:	Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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