Genetics of Von Hippel-Lindau Disease

Dwyer, Denise C.; Tu, Raymond K.

doi:10.3174/ajnr.a5032

Cited by 5 publications

(4 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Belzutifan, an HIF-2α inhibitor, has shown promising results in treating advanced forms of pheochromocytoma or paraganglioma, PNETs, and VHL disease–associated tumors in clinical trials ( 1 ). A case report also suggests exceptional activity in metastatic PNET arising from VHL with belzutifan ( 2 ). Meanwhile, somatostatin analogs, such as octreotide and lanreotide, have been shown to have antiproliferative effects in nonfunctional PNETs and may have a role in the management of VHL-associated PNETs ( 3 ).…”

Section: Discussionmentioning

confidence: 92%

See 1 more Smart Citation

Von Hippel-Lindau is Associated to Pancreatic Neuroendocrine Tumors: A Comprehensive Review

Coco¹,

Leanza²

2023

jkcvhl

View full text Add to dashboard Cite

Multiorgan tumors are a hallmark of the autosomal dominant genetic disorder known as Von Hippel-Lindau syndrome (VHL), which is typically the result of inherited aberrations of the VHL tumor suppressor gene. The most frequent cancer is retinoblastoma, which can also occur in the brain and spinal cord, renal clear cell carcinoma (RCCC), paraganglioma, and neuroendocrine tumors. There may also be lymphangiomas, epididymal cysts, and pancreatic cysts or pancreatic neuroendocrine tumors (pNETs). The most frequent causes of death are metastasis from RCCC and neurological complications from retinoblastoma or central nervous system (CNS). Pancreatic cysts are present in 35–70% of VHL patients. Simple cysts, serous cysts, or pNETs are possible presentations, and the likelihood of malignant degeneration or metastasis is no greater than 8%. Although VHL has been associated with pNETs, their pathological characteristics are unknown. Furthermore, it is unknown whether variations in the VHL gene cause the development of pNETs. Hence, this retrospective study was undertaken with the main aim to examine whether pNETs are connected to VHL from a surgical perspective.

show abstract

Section: Discussionmentioning

confidence: 92%

“…Von Hippel-Lindau (VHL) disease is a hereditary syndrome linked to the development of multiorgan neoplasms ( 1 , 2 ). The incidence is roughly 1 in 36,000 live births ( 3 ).…”

Section: Introductionmentioning

confidence: 99%

Von Hippel-Lindau is Associated to Pancreatic Neuroendocrine Tumors: A Comprehensive Review

Coco¹,

Leanza²

2023

jkcvhl

View full text Add to dashboard Cite

show abstract

“…The most common cause of the disease is mutations of the VHL gene on chromosome 3, but the phenotype may exhibit in patients without mutations in the gene itself, probably due to mutations in regulatory sequences [ 3 , 4 ]. The VHL gene acts as a tumor suppressor and its corresponding protein (pVHL) has two isoforms, a full length pVHL30 and pVHL19 generated by alternative translation.…”

Section: Introductionmentioning

confidence: 99%

Central nervous system hemangioblastomas in von Hippel-Lindau disease: Total growth rate and risk of developing new lesions not associated with circulating VEGF levels

et al. 2022

View full text Add to dashboard Cite

Background Hemangioblastomas of the central nervous system are a prominent feature of von Hippel-Lindau-disease (vHL). Hemangioblastomas are known to secrete vascular endothelial growth factor (VEGF), suggesting a potential role of VEGF as a biomarker for tumor growth. Methods Plasma VEGF samples from 24 patients with von Hippel-Lindau disease were analyzed by solid-phase proximity ligation assay (PLA). Levels were monitored over time together with numeric and volumetric CNS tumor burden, and compared to plasma VEGF levels in healthy controls. Results The mean yearly progression in tumor volume was 65.5%. Yearly risk of developing one or several new CNS tumor(s) was 50%. No significant correlation between tumor burden and levels of VEGF was seen. VEGF levels in patients (31.55–92.04; mean 55.83, median 56.41) as measured by immunodetection in a solid-phase PLA did not differ significantly from controls (37.38–104.56; mean 58.89, median 54.12) (p = 0,266). Conclusion The increase in total CNS tumor volume in vHL occurred in a saltatory manner. The risk of developing a new lesion was 50% per year. We found no evidence for VEGF secretion from CNS hemangioblastomas in vHL in circulating blood. Other potential biomarkers should be explored to assess progression of tumor burden in vHL.

show abstract

“…Von Hippel-Lindau (VHL) disease is a hereditary syndrome associated with the development of multiorgan neoplasms (Feletti et al 2016, Dwyer & Tu 2017. The estimated incidence is around 1 in 36,000 live births (Lonser et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Diagnostic and management strategies for pNETs in Von Hippel–Lindau: a systematic review

Ahmad

Naber

Giles³

et al. 2021

Endocrine-Related Cancer

View full text Add to dashboard Cite

Pancreatic neuro-endocrine tumors (pNETs) in Von Hippel-Lindau (VHL) disease have a relatively good prognosis. However, a subset of pNETs metastasize and significantly contribute to VHL-related mortality. Evidence-based guidelines are needed for timely detection, management and intervention of these tumors. However, the value of several diagnostic tools is controversial and evidence-based management strategies are lacking. This systematic review aims to update current literature on diagnostic and management strategies of pNETs in VHL and proposes evidence-based recommendations. The databases of PubMed/MEDLINE, Embase and Web of Science were systematically searched to identify relevant studies. Studies were screened independently and cross-checked by two authors to assess eligibility for inclusion. Eighty-four articles were eligible for full-text reading and thirteen were critically appraised using the modified Quality Assessment of Diagnostic Accuracy Studies or modified Quality in Prognostic Studies tool. Six studies assessed the diagnostic value of imaging modalities, one studied the diagnostic value of biomarkers, five focused on the optimal timing for surgical intervention and one article studied the growth rate of pNETs. Quality of the available evidence was determined using the Grading of Recommendations, Assessment, Development and Evaluations tool. Studies recommended computed tomography (CT) or magnetic resonance imaging as the primary screening modalities for pNETs. For detection of metastases, 68Gallium-DOTA0-Tyr3-octreotate positron emission tomography/CT is advised. Biomarkers play no role in screening and management of pNETs. For pNETs<2cm a watch-and-wait approach is recommended, while for pNETs ≥2.5cm surgical resection is advised. Due to limited data, no strong recommendations on surveillance could be proposed.

show abstract

Genetics of Von Hippel-Lindau Disease

Cited by 5 publications

References 23 publications

Von Hippel-Lindau is Associated to Pancreatic Neuroendocrine Tumors: A Comprehensive Review

Von Hippel-Lindau is Associated to Pancreatic Neuroendocrine Tumors: A Comprehensive Review

Central nervous system hemangioblastomas in von Hippel-Lindau disease: Total growth rate and risk of developing new lesions not associated with circulating VEGF levels

Diagnostic and management strategies for pNETs in Von Hippel–Lindau: a systematic review

Contact Info

Product

Resources

About