Islet cell tumors in von Hippel-Lindau disease: increased prevalence and relationship to the multiple endocrine neoplasias.

Binkovitz, Larry A.; Johnson, C. Daniel; Stephens, David H.

doi:10.2214/ajr.155.3.1974734

Cited by 112 publications

(60 citation statements)

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“…The typical features of VHL disease include retinal and brain hemangioblastoma, renal cell carcinoma, renal cysts, pheochromocytoma, and pancreatic tumors and cysts (Lonser et al 2003). Pancreatic Data compiled from original articles and reviews (Grimelius et al 1975, Creutzfeldt 1980, Weil 1985, Harris et al 1987, Klö ppel & Heitz 1988, Eriksson et al 1989, Watson et al 1989, Demeure et al 1991, Kimura et al 1991, Service et al 1991, Soga & Yakuwa 1994, 1998b, 1999, Wermers et al 1996, Lam & Lo 1997, Solcia et al 1997, Smith et al 1998, Jensen 1999 www.endocrinology-journals.org endocrine tumors are found in 9.5-17% of patients with VHL disease (Binkovitz et al 1990, Libutti et al 1998, Hammel et al 2000, Blansfield et al 2007. The PETs associated with VHL disease are virtually always nonfunctional (Blansfield et al 2007).…”

Section: Pets Associated With Hereditary Syndromesmentioning

confidence: 99%

Pancreatic endocrine neoplasms: epidemiology and prognosis of pancreatic endocrine tumors

Halfdanarson¹,

Rubin²,

Farnell³

et al. 2008

Endocrine Related Cancer

342

233

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Pancreatic endocrine tumors (PETs) are uncommon tumors with an annual incidence !1 per 100 000 person-years in the general population. The PETs that produce hormones resulting in symptoms are designated as functional. The majority of PETs are non-functional. Of the functional tumors, insulinomas are the most common, followed by gastrinomas. The clinical course of patients with PETs is variable and depends on the extent of the disease and the treatment rendered. Patients with completely resected tumors generally have a good prognosis, and aggressive surgical therapy in patients with advanced disease may also prolong survival. The epidemiology, prognosis, and established and novel prognostic markers of PETs are reviewed.

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Section: Pets Associated With Hereditary Syndromesmentioning

confidence: 99%

Pancreatic endocrine neoplasms: epidemiology and prognosis of pancreatic endocrine tumors

Halfdanarson¹,

Rubin²,

Farnell³

et al. 2008

Endocrine Related Cancer

342

233

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“…Pancreatic neuroendocrine tumors arise in 8-17% of such patients and pancreatic cysts and SCNs occur with a prevalence of 17-56% in patients with von Hipple Lindau disease (7,12,13,18). Overall, 35-70% of such patients have pancreatic neuroendocrine tumors, cysts, or SCNs (8,9,18).…”

Section: Discussionmentioning

confidence: 99%

“…Various pancreatic lesions, including pancreatic cysts, serous cystic neoplasms (SCN), neuroendocrine tumors, adenocarcinoma, hemangioblastomas, and metastasis of the renal cell carcinomas, have been described in patients with VHL (2,(7)(8)(9)(10)(11)(12)(13)(14). In these previous reports, the frequency of pancreatic involvement in VHL disease was described to be from 0%-72%, with a mean of approximately 50% when the largest series are pooled.…”

Section: Introductionmentioning

confidence: 99%

Serous Cystic Neoplasms of the Whole Pancreas in a Patient with von Hippel-Lindau Disease

et al. 2011

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We describe here a case of von Hippel-Lindau (VHL) disease with a serous cystic neoplasm of the whole pancreas. The patient was a 35-year-old woman suffering from a palpable abdominal tumor. She had a history of hemangioblastomas of the cerebellum. CT revealed large solid tumors in the pancreatic head and body, and multiple cystic lesions in the whole pancreas as well as a right renal tumor. When endoscopic retrograde cholangiopancreatography (ERCP) was performed, bleeding from the duodenal papilla was detected. Since she had some distinguishing clinical features, the diagnosis of VHL disease was made. The preoperative diagnosis of the pancreatic lesion was serous cystic neoplasms with hemosuccus pancreaticus and total pancreatectomy was performed. Histological examination of the specimen revealed serous cystic neoplasms which occupied the entire pancreas. VHL cases operated on for serous cystic neoplasms of the entire pancreas are very rare.

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“…Consistent with this hypothesis, it was subsequently demonstrated that many missense mutations causing a Type 1 phenotype involved core hydrophobic residues and were predicted to disrupt protein structure, whereas Type 2 phenotype missense mutations involved substitutions at a surface amino acid that does not cause a total loss of function (Stebbins et al 1999). Although no specific genotype-phenotype correlations have been defined for pancreatic NETs occurring in VHL disease, it has been observed that they may be more frequently associated with phaeochromocytoma (Binkovitz et al 1990, Marcos et al 2002. Thus Marcos et al (2002) reported that up to 40% of VHL patients with a pancreatic NET had a surgically confirmed adrenal phaeochromocytoma.…”

Section: Molecular Genetics Of Vhl Diseasementioning

confidence: 97%

“…Phaeochromocytoma is a notable feature because of marked interfamilial variation such that although the overall frequency is 10-20%, in many families it is absent while in other kindreds it is the most frequent manifestation of VHL disease (Maher 2004). Pancreatic islet cell tumour is the other major endocrine tumour seen in VHL disease although occasionally hyperparathyroidism and carcinoid have been reported (Binkovitz et al 1990, Fellows et al 1990, Hough et al 1994, Arao et al 2002. Non-endocrine features of VHL disease have been reviewed in detail elsewhere (Maher 2004).…”

Section: Introductionmentioning

confidence: 99%

Von Hippel-Lindau disease and endocrine tumour susceptibility

Woodward¹,

Maher²

2006

Endocr Relat Cancer

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Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by mutations in the VHL tumour suppressor gene. VHL disease is characterised by marked phenotypic variability and the most common tumours are haemangioblastomas of the retina and central nervous system and clear cell renal cell carcinoma. However, endocrine tumours, most commonly phaeochromocytoma and non-secretory pancreatic islet cell cancers, demonstrate marked interfamilial variations in frequency and are significant causes of morbidity and, sometimes, mortality. Genotype-phenotype correlations have revealed that certain missense mutations are associated with a high risk of phaeochromocytoma but total loss of function mutations are associated with a low risk. Furthermore, rare mutations may predispose to a phaeochromocytoma-only phenotype. Germline VHL mutations may be detected in 5-11% of all phaeochromocytoma cases and mutation analysis of VHL and other phaeochromocytoma susceptibility genes (SDHB, SDHD and RET) should be performed in all cases of familial, multiple or early onset phaeochromocytomas, and considered in other cases. The VHL gene product has a key role in regulating the stability of hypoxia-inducible factors (HIF-1 and HIF-2) such that inactivation of VHL leads to up-regulation of HIF-1 and HIF-2 protein expression and activation of hypoxic gene response pathways. Germline SDHB and SDHD mutations also lead to increased expression of HIF target genes, but it appears that phaeochromocytoma susceptibility in VHL disease cannot be attributed to HIF activation alone. Recently, it has been suggested that an HIF-independent failure of developmental apoptosis is a common feature of all inherited phaeochromocytoma susceptibility syndromes.

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Islet cell tumors in von Hippel-Lindau disease: increased prevalence and relationship to the multiple endocrine neoplasias.

Cited by 112 publications

References 0 publications

Pancreatic endocrine neoplasms: epidemiology and prognosis of pancreatic endocrine tumors

Pancreatic endocrine neoplasms: epidemiology and prognosis of pancreatic endocrine tumors

Serous Cystic Neoplasms of the Whole Pancreas in a Patient with von Hippel-Lindau Disease

Von Hippel-Lindau disease and endocrine tumour susceptibility

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