ArticleSAGE open medical case reports2026
First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review.
Article in SAGE open medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominant disorder caused by the fumarate hydratase (FH) gene mutations. Here, we report the first identification of the rare FH-Q185R mutation in a Chinese patient with HLRCC. This case report not only examines the distribution of the FH gene using the Cancer Genome Atlas database but also provides a series of evidence to assess the pathogenicity of the Q185R mutation. This missense mutation, encoded by mitochondrial DNA, corresponds to the cytoplasmic amino acid residue 142 in human cells. These findings could pave the way for more effective management and treatment approaches for patients suffering from HLRCC.
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