AUTHOR=Tung Moon Ley , Chandra Bharatendu , Dillahunt Kyle , Gosse Matthew D. , Sato T. Shawn , Sidhu Alpa 

TITLE=Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report

JOURNAL=Frontiers in Oncology

VOLUME=Volume 12 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.925582

DOI=10.3389/fonc.2022.925582

ISSN=2234-943X

ABSTRACT=<p>Von Hippel Lindau(VHL)syndrome presents with cerebellar and spinal hemangioblastomas, renal cell cancer, neuroendocrine pancreatic tumor, and pheochromocytoma and it is caused by germline mutations in the <italic>VHL</italic> gene. Pathogenic germline variants in the succinate dehydrogenase A (<italic>SDHA</italic>) gene are associated with paraganglioma and pheochromocytoma. Here we report co-occurrence of germline pathogenic variants in both <italic>VHL</italic> and <italic>SDHA</italic> genes in a patient who presented with pancreatic neuroendocrine tumor. As these genes converge on the pseudo-hypoxia signaling pathway, further studies are warranted to determine the significance of co-occurrence of these variants in relation to tumor penetrance, disease severity, treatment response and clinical outcomes in this selected group of patients.</p>