Combined Germline and Mosaic SDHA Mutation Is Associated With a Multicancer Syndrome Including Neuroblastoma, Renal Cancer, and Multifocal GI Tumor.

The article discusses a case of a patient with a rare genetic condition called familial paraganglioma and pheochromocytoma syndrome (familial PGL/PCC) who developed multiple cancers, including neuroblastoma, renal cancer, and gastrointestinal stromal tumor (GIST). The patient underwent various treatments and surgeries over the years, and genetic testing revealed a germline and mosaic SDHA mutation associated with the syndrome. The study highlights the importance of genetic testing for patients with GISTs and a history of cancer, as well as the need for further research on treatment options and screening recommendations for individuals with SDHA mutations. [Extracted from the article]