Von Hippel-Lindau Syndrome Presenting as Pancreatic Cysts

✓ The findings of a 10-year study (1976 to 1986) conducted in southwest Germany on hemangioblastomas (HBL's) of the central nervous system (CNS) are presented. During that period, 47 HBL's were diagnosed and surgically removed in 44 patients, with a good postoperative survival rate and prognosis. The majority (83%) of these tumors were located in the cerebellum. By thorough clinical examination of the patients and careful evaluation of their family background, it was found that 23% of the HBL patients were afflicted with von Hippel-Lindau syndrome. In addition to the CNS tumors, 14 neoplastic or similar lesions were detected in other tissues. These included angiomatosis of the retinae, pheochromocytomas, pancreatic cysts, renal cysts, and renal carcinoma. The diagnosis of von Hippel-Lindau syndrome was thus established in seven families. The authors suggest the need for a screening program for patients with HBL of the CNS which is designed to confirm or exclude ocular or visceral lesions associated with von Hippel-Lindau syndrome.

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Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

Cancer Cell International ◽

10.1186/s12935-021-02386-w ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Dali Tong ◽

Yao Zhang ◽

Jun Jiang ◽

Gang Bi

Keyword(s):

Gene Therapy ◽

Gene Mutation ◽

Suppressor Gene ◽

Pancreatic Cysts ◽

Vhl Gene ◽

Von Hippel Lindau ◽

Genetic Examination ◽

Examination Methods ◽

Vhl Disease ◽

Von Hippel Lindau Syndrome

Abstract Background Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most prevalent mutations are present in VHL syndrome. To date, > 500 mutations of gene related to the progression of VHL syndrome have been reported. VHL gene mutation presented in single lung or pancreatic tumor has been reported occasionally, but there is no report of both. Methods In this paper, we used CT scan, pathological and genetic examination methods to diagnose a rare atypical VHL syndrome. Results We reported a rare case of atypical VHL syndrome with authenticated VHL mutation at p.Arg167Gln, that was associated with not only bilateral pheochromocytoma but also lung carcinoid and neuroendocrine tumor of pancreas. Based on literature reviews, the patient was recommended to be further subjected to octreotide-based radionuclide therapy. Conclusions Combined with gene detection and clinical diagnosis, we found the inherent relationship between VHL genotype and phenotype, and constructed the standard diagnosis and treatment process of disease with rare VHL mutation from the perspective of gene therapy.

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Outcomes of nephron sparing surgery and cortical sparing adrenalectomy in the management of Von Hippel–Lindau syndrome

African Journal of Urology ◽

10.1186/s12301-021-00253-8 ◽

2021 ◽

Vol 27 (1) ◽

Author(s):

Selvin Theodore Jayanth ◽

Partho Mukherjee ◽

Arun Jacob Philip George ◽

J. Chandrasingh ◽

T. J. Nirmal ◽

...

Keyword(s):

Tertiary Care ◽

Adrenal Function ◽

Nephron Sparing Surgery ◽

Pancreatic Metastasis ◽

Pancreatic Cysts ◽

Adrenal Crisis ◽

Von Hippel Lindau ◽

Nephron Sparing ◽

Von Hippel Lindau Syndrome

Abstract Background The management of Von Hippel–Lindau syndrome (VHLS) is multidisciplinary. The urologist is involved in treating the renal, epididymal tumors and often adrenal pheochromocytoma. Preservation of renal and adrenal function is a challenge. We present 17 cases of VHLS in a tertiary care center in South India. Methods A retrospective review of the patients who underwent surgical treatment under urology for VHLS from January 2009 to November 2018 was conducted. The demographic data, the spectrum of manifestation, treatment, change in glomerular filtration rate, adrenal insufficiency, and recurrence-free survival were analyzed. Results There were 17 patients diagnosed with VHLS. The median age of diagnosis was 39 years (range 23–41). The spectrum of clinical manifestation was: multifocal RCC (88%), pancreatic cysts/tumors (70%), cerebellar hemangioblastoma (59%), retinal angiomas (47%), epididymal cysts/tumors (47%), pheochromocytomas (41%), and spinal hemangiomas (30%). There were seven patients with ten pheochromocytoma lesions. Three underwent cortical sparing and seven total adrenalectomies; 13 patients underwent nephron sparing surgery (NSS), of which seven patients had bilateral tumors. The median duration of follow-up was 6.5 years (range 2–12 years). Following NSS, seven patients had a local recurrence, and one developed pancreatic metastasis. Two patients (11%) were lost to follow-up. Renal function was preserved in all patients at the last follow-up, and there was no postoperative adrenal crisis or mortality. Conclusion Nephron sparing surgery and cortical sparing adrenalectomy are the treatment of choice for multifocal RCC and pheochromocytomas in patients with VHLS providing good oncological outcomes and preservation of renal and adrenal function.

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A Review of Von Hippel-Lindau Syndrome

Journal of Kidney Cancer and VHL ◽

10.15586/jkcvhl.2017.88 ◽

2017 ◽

Vol 4 (3) ◽

pp. 20-29 ◽

Cited By ~ 50

Author(s):

Neha Varshney ◽

Amanuel A Kebede ◽

Harry Owusu-Dapaah ◽

Jason Lather ◽

Manu Kaushik ◽

...

Keyword(s):

De Novo ◽

Malignant Tumors ◽

Treatment Options ◽

Positive Family History ◽

Treatment Modalities ◽

Pancreatic Cysts ◽

Molecular Testing ◽

De Novo Mutations ◽

Von Hippel Lindau ◽

Von Hippel Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3. While the majority of the affected individuals have a positive family history, up to 20% of cases arise from de novo mutations. VHL syndrome is characterized by the presence of benign and malignant tumors affecting the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. Common manifestations include hemangioblastomas of the brain, spinal cord, and retina; pheochromocytoma and paraganglioma; renal cell carcinoma; pancreatic cysts and neuroendocrine tumors; and endolymphatic sac tumors. Diagnosis of VHL is prompted by clinical suspicion and confirmed by molecular testing. Management of VHL patients is complex and multidisciplinary. Routine genetic testing and surveillance using various diagnostic techniques are used to help monitor disease progression and implement treatment options. Despite recent advances in clinical diagnosis and management, life expectancy for VHL patients remains low at 40–52 years. This article provides an overview of the major clinical, histological, and radiological findings, as well as treatment modalities.

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Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome?

Journal of Kidney Cancer and VHL ◽

10.15586/jkcvhl.v9i1.206 ◽

2021 ◽

Vol 9 (1) ◽

pp. 27-32

Author(s):

Danilo Coco ◽

Silvana Leanza

Keyword(s):

Strong Association ◽

Neurological Complications ◽

Suppressor Gene ◽

Renal Clear Cell Carcinoma ◽

Point Of View ◽

Pancreatic Cysts ◽

Malignant Degeneration ◽

Von Hippel Lindau ◽

Genetic Aberration ◽

Von Hippel Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disease caused by a genetic aberration of the tumor suppressor gene VHL and characterized by multi-organ tumors. The most common neoplasm is retinal or cerebral hemangioblastoma, although spinal hemangio-blastomas, Renal Clear Cell Carcinoma (RCCC), pheochromocytomas (Pheo), paragangliomas, Pancreatic Neuroendocrine Tumors (PNETs), cystadenomas of the epididymis, and tumors of the lymphatic sac can also be found. Neurological complications from retinal or CNS hemangio-blastoma and metastases of RCCC are the most common causes of death. There is a strong association between pheochromocytoma and VHL syndrome, and pheochromocytoma is often a classic manifestation of the syndrome. RCCCs are often incidental and identified during other tests. Between 35 and 70% of patients with VHL have pancreatic cysts. These can manifest as simple cysts, serous cystoadenomas, or PNETs with a risk of malignant degeneration or metastasis of no more than 8%. The objective of this retrospective study is to analyze abdominal manifestations of VHL from a surgical point of view.

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