A novel fumarate hydratase frameshift mutation in lung adenocarcinoma: A case report

Abstract

Fumarate hydratase (FH) is a tumor suppressor gene implicated in the tumorigenesis of several cancers, including renal cell carcinoma. However, FH mutations are uncommon in lung adenocarcinoma, and frameshift deletions are exceedingly rare. Here, we report a novel FH frameshift mutation (G97fs*3) in a 67-year-old woman with lung adenocarcinoma. The mutation was detected through comprehensive genomic profiling. It occurs within the catalytic domain of FH and has not been previously reported in this cancer type. A literature review revealed that FH mutations are oncogenic in hereditary leiomyomatosis and renal cell cancer, suggesting that the frameshift mutation could also serve as a driver mutation in this case. This report highlights the utility of comprehensive genomic profiling in identifying clinically relevant mutations and demonstrates the potential of leveraging such insights for precision oncology. FH alterations, such as the one described, could represent potential therapeutic targets from molecular perspectives.