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

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 associa...

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Autores principales: Tung, Moon Ley, Chandra, Bharatendu, Dillahunt, Kyle, Gosse, Matthew D., Sato, T. Shawn, Sidhu, Alpa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300936/
https://www.ncbi.nlm.nih.gov/pubmed/35875079
http://dx.doi.org/10.3389/fonc.2022.925582
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author Tung, Moon Ley
Chandra, Bharatendu
Dillahunt, Kyle
Gosse, Matthew D.
Sato, T. Shawn
Sidhu, Alpa
author_facet Tung, Moon Ley
Chandra, Bharatendu
Dillahunt, Kyle
Gosse, Matthew D.
Sato, T. Shawn
Sidhu, Alpa
author_sort Tung, Moon Ley
collection PubMed
description 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.
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spelling pubmed-93009362022-07-22 Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report Tung, Moon Ley Chandra, Bharatendu Dillahunt, Kyle Gosse, Matthew D. Sato, T. Shawn Sidhu, Alpa Front Oncol Oncology 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. Frontiers Media S.A. 2022-07-07 /pmc/articles/PMC9300936/ /pubmed/35875079 http://dx.doi.org/10.3389/fonc.2022.925582 Text en Copyright © 2022 Tung, Chandra, Dillahunt, Gosse, Sato and Sidhu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Tung, Moon Ley
Chandra, Bharatendu
Dillahunt, Kyle
Gosse, Matthew D.
Sato, T. Shawn
Sidhu, Alpa
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title_full Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title_fullStr Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title_full_unstemmed Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title_short Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
title_sort co-occurrence of vhl and sdha pathogenic variants: a case report
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300936/
https://www.ncbi.nlm.nih.gov/pubmed/35875079
http://dx.doi.org/10.3389/fonc.2022.925582
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