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

Moon Ley Tung; Bharatendu Chandra; Kyle Dillahunt; Matthew D Gosse; T Shawn Sato; Alpa Sidhu

doi:10.3389/fonc.2022.925582

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

Front Oncol. 2022 Jul 7:12:925582. doi: 10.3389/fonc.2022.925582. eCollection 2022.

Authors

Moon Ley Tung¹, Bharatendu Chandra¹, Kyle Dillahunt¹, Matthew D Gosse², T Shawn Sato³, Alpa Sidhu¹

Affiliations

¹ Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
² Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
³ Division of Pediatric Radiology, The Stead Family Children's Hospital, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.

Abstract

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 VHL gene. Pathogenic germline variants in the succinate dehydrogenase A (SDHA) gene are associated with paraganglioma and pheochromocytoma. Here we report co-occurrence of germline pathogenic variants in both VHL and SDHA 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.

Keywords: SDHA-associated paraganglioma and pheochromocytoma syndrome; cancer; genetics; paraganglioma; von Hippel-Lindau syndrome.

Publication types

Case Reports