Journal article
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
Frontiers in oncology, Vol.12
07/07/2022
DOI: 10.3389/fonc.2022.925582
PMCID: PMC9300936
PMID: 35875079
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.
Details
- Title: Subtitle
- Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
- Creators
- Moon Ley Tung - University of IowaBharatendu Chandra - University of IowaKyle Dillahunt - University of Iowa Hospitals and ClinicsMatthew D. Gosse - University of IowaT. Shawn Sato - University of IowaAlpa Sidhu - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Frontiers in oncology, Vol.12
- DOI
- 10.3389/fonc.2022.925582
- PMID
- 35875079
- PMCID
- PMC9300936
- NLM abbreviation
- Front Oncol
- ISSN
- 2234-943X
- eISSN
- 2234-943X
- Publisher
- Frontiers Media S.A
- Language
- English
- Date published
- 07/07/2022
- Academic Unit
- Radiology; Stead Family Department of Pediatrics; Pathology; Medical Genetics and Genomics
- Record Identifier
- 9984354050002771
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