CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1676039
von Hippel-Lindau (VHL) Disease: A young female presenting with multiple organ tumors
Provisionally accepted
- 1Key Laboratory of Cardiovascular Remodeling and Function Research, Qilu Hospital, Shandong University, Jinan, China
- 2Qilu Hospital of Shandong University, Jinan, China
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This report presents a case involving a young female patient diagnosed with von Hippel-Lindau (VHL) syndrome. The patient developed multiple sequential tumors, including spinal cord hemangioblastoma, multiple pancreatic cysts, and pheochromocytoma. Whole-genome sequencing identified a deletion mutation in exon 3 of the VHL gene, challenging the previous understanding that VHL deletion mutations are highly prevalent in hemangioblastoma and renal cell carcinoma but uncommon in pheochromocytoma. This case underscores the importance of considering hereditary genetic syndromes in patients presenting with hypertension and multi-system tumor involvement. Comprehensive evaluation, standardized familial screening, and genetic testing play a crucial role in guiding treatment decisions for affected individuals.
Keywords: secondary hypertension, von Hippel-Lindau (VHL) disease, Pheochromocytoma, Spinal cord hemangioblastoma, Multiple Pancreatic Cysts
Received: 05 Aug 2025; Accepted: 06 Oct 2025.
Copyright: © 2025 Li, Ti, Yan, Tongshuai, Guo, Hu, Zhang and Bu. 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) or licensor 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.
* Correspondence:
Qin Hu, huqin@sdu.edu.cn
Cheng Zhang, zhangc@sdu.edu.cn
Peili Bu, bupeili@medmail.com.cn
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