AUTHOR=Bai Xiaoming , Xiang Dan , Huang Mengxi , Chen Yitian 

TITLE=Case report: successful response to bevacizumab combined with erlotinib for a novel FH gene mutation hereditary leiomyoma and renal cell carcinoma

JOURNAL=Frontiers in Pharmacology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2024.1373020

DOI=10.3389/fphar.2024.1373020

ISSN=1663-9812

ABSTRACT=<p><italic>FH</italic>-deficient Renal Cell Carcinoma (<italic>FH</italic>-deficient RCC) are inherited tumors caused by mutations in the fumarate hydratase (<italic>FH</italic>) gene, which plays a role in the tricarboxylic acid cycle. These mutations often result in aggressive forms of renal cell carcinoma (RCC) and other tumors. Here, we present a case of <italic>FH</italic>-deficient RCC in a 43-year-old woman with a history of uterine fibroids. She exhibited a new heterozygous mutation in exon six of the <italic>FH</italic> gene (c.799_803del, c.781_796del). The patient had multiple bone metastases and small subcutaneous nodules in various areas such as the shoulders, back, and buttocks. Biopsy of a subcutaneous nodule on the right side revealed positive expression of 2-succinate-cysteine (2SC), and <italic>FH</italic> staining indicated <italic>FH</italic> expression deletion. The patient underwent treatment with a combination of erlotinib and bevacizumab, which resulted in significant efficacy with moderate side effects. This treatment combination may be recommended as a standard regimen. This case underscores the importance of genetic testing in patients with advanced renal cancer to enhance diagnostic accuracy. Furthermore, it provides insights into potential treatment approaches for <italic>FH</italic>-deficient RCC.</p>