平滑肌肉瘤
平滑肌瘤病
平滑肌瘤
延胡索酶
肾细胞癌
医学
病理
肾切除术
肾
内科学
生物
基因
生物化学
作者
Miriam O'Connor,Maxine Paul,Grant Wylie
出处
期刊:Case Reports
[BMJ]
日期:2024-08-01
卷期号:17 (8): e261618-e261618
标识
DOI:10.1136/bcr-2024-261618
摘要
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.
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