What question did this study set out to answer?

To identify and assess the pathogenicity of the FH-Q185R germline mutation in a patient with HLRCC.

February 2, 2026SAGE Open Medical Case Reports0 citationsOpen Access

First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review

Key Points

To identify and assess the pathogenicity of the FH-Q185R germline mutation in a patient with HLRCC.
Case report of a Chinese patient with HLRCC
Analysis of the FH gene through the Cancer Genome Atlas database
Evaluation of the pathogenicity of the mutation
First identification of FH-Q185R mutation in a Chinese patient
Correlation of the mutation with genetic characteristics from the Cancer Genome Atlas
Evidence supporting the pathogenicity of the Q185R mutation

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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