Pancreatic Involvement in Von Hippel-Lindau Disease

Mustafa, Eras; Yenigün, Mustafa; Cengiz, Acar; Kumbasar, Baki; Sar, Fuat; Bılge, Turgay

doi:10.1007/978-1-85233-904-3_12

Cited by 13 publications

(18 citation statements)

References 27 publications

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“…Pancreatic cysts are entirely benign and generally do not cause difficulties for patients with VHL. However, in certain cases, the cysts can become large and can spread to neighboring pancreatic tissue or other organs in the body, causing blockage of the pancreas, pain, or disruption of other organs [31].…”

Section: Pancreatic Lesionsmentioning

confidence: 99%

Role of VHL gene mutation in human renal cell carcinoma

Arjumand

Sultana

2011

Tumor Biol.

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The Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by the inactivation of VHL tumor suppressor gene, and somatic mutation of this gene has been related to the development of sporadic clear cell renal carcinoma. The affected individuals are at higher risk for the development of tumor in other organs, which include pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. The VHL mRNA encodes a protein (pVHL) that contains 213 amino acid residues which migrate with an apparent molecular weight of 24 to 30 kDa. The VHL gene protein has multiple functions that are linked to tumor suppression, but the best recognized and evidently linked to the development of renal cell carcinoma (RCC) is inhibition of hypoxia-inducible factor (HIF), as well as plays a role in targeting HIF for ubiquitin-mediated degradation. Aberrations in VHL's function, either through mutation or promoter hypermethylation, lead to the accumulation of HIF, which will transcriptionally upregulate a sequence of hypoxia responsive genes, including epidermal growth factor, vascular endothelial growth factor, platelet-derived growth factor, and other proangiogenic factors, resulting in upregulated blood vessel growth, one of the prerequisites of a tumor. HIF plays a critical role in pVHL-defective tumor formation, raising the possibility that drugs directed against HIF or its downstream targets (such as vascular endothelial growth factor) may one day play a role in the treatment of RCC. Moreover, a number of drugs have been developed that target HIF-responsive gene products, many of these targeted therapies have demonstrated significant activity in kidney cancer clinical trials and signify substantive advances in the treatment of this disease.

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Section: Pancreatic Lesionsmentioning

confidence: 99%

Role of VHL gene mutation in human renal cell carcinoma

Arjumand

Sultana

2011

Tumor Biol.

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“…For example, Hammel et al 19 and others support the approach that pancreatic lesions smaller than 1 cm in diameter should be monitored on an annual basis, whereas pancreatic lesions exceeding 3 cm in diameter should be resected because of the likelihood of metastatic disease. 19 In general, surgery is indicated if the diagnosis of VHL syndrome cannot be confirmed and the nature of cysts is uncertain. We also think that surgery is indicated if symptoms can be attributed to the cysts in a wellestablished and diagnosed case of VHL syndrome, as in our patient, whose vomiting stopped after the surgical resection.…”

Section: Discussionmentioning

confidence: 96%

“…11,12 A retrospective analysis of 17 consecutive patients with VHL syndrome by Mukhopadhyay et al 18 showed that the manifestation of pancreatic disease was diabetes mellitus, diagnosed in two patients with serous microcystic adenomas, whereas none of the other 15 patients satisfied the criteria for diabetes mellitus, despite repeated routine testing. Hammel et al 19 reported the development of diabetes mellitus in 3 of 158 patients with VHL syndrome from multiple centers, but details were not included. These two studies suggest that the expanding cystic formations in VHL syndrome may have some impact on the development of diabetes mellitus.…”

Section: Discussionmentioning

confidence: 98%

Pancreatic Lesions in von Hippel-Lindau Syndrome: Report of a Case

et al. 2004

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von Hippel-Lindau (VHL) syndrome is a rare autosomal inherited disorder. A germline mutation predisposes carriers to the development of multiple tumors, the most common of which are hemangioblastoma, renal cell carcinoma, pheochromocytoma, and islet cell and cystic tumors of the pancreas, the kidney, and epididymis. Visceral manifestations, such as cystadenoma of the pancreas, occur late in its course. We report the case of a 20-year old woman who presented with vomiting and dizziness, most probably caused by a palpable mass in the upper abdomen, diagnosed as pancreatic cysts. She had undergone surgery for cerebellar hemangioblastoma 4 years previously. In view of her young age, preservation of pancreatic function was crucial because of the expense of enzyme therapy and the difficulties with follow-up. Therefore, we performed cyst enucleation and distal pancreatectomy, which relieved her symptoms. She has been well with no sign of recurrence for 18 months. This case highlights that a well-prepared surgical procedure can cure a patient with pancreatic cysts caused by VHL, living in difficult socioeconomic conditions.

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“…In von Hippel-Lindau disease, pancreatic neuroendocrine tumors have been reported to occur with an incidence of 2%-17%, [5][6][7][8][9] and 60% of the tumors had focally clear cell cytoplasm, regardless of size. 10 In the present case, although a molecular genetic analysis for the VHL gene was not performed, there were neither clinical findings nor a family history of von Hippel-Lindau disease, and preoperative examination showed no evidence of the disease in the kidneys and adrenal glands.…”

Section: Discussionmentioning

confidence: 98%

“…Clear cell tumors of the endocrine system are reported rarely in the thyroid 2,3 or parathyroid. 4 The frequency of pancreatic endocrine tumors in von Hippel-Lindau disease has been reported to range from 2% to 17% of all cases, [5][6][7][8][9] and 60% of the tumors have a focal, clear cell component, regardless of the size of the main tumor. 10 However, clear cell endocrine tumors that are not associated with von Hippel-Lindau disease of the pancreas are extremely rare, and only seven cases showing predominant or entire cell change have been documented previously.…”

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confidence: 98%

Clear Cell Endocrine Tumor of the Pancreas Which is Not Associated with von Hippel-Lindau Disease: Report of a Case

et al. 2003

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We describe the case of a pancreatic endocrine tumor with marked clear cell changes. The patient, a 56-year-old woman, presented with appetite loss and nausea but no evidence of either von Hippel-Lindau disease, or a family history of the disease. A radiological examination revealed a hypervascular tumor measuring 5.2 cm in diameter located in the pancreatic head. The patient underwent a pylorus-preserving pancreatoduodenectomy. The cut surface of the tumor was yellowish and well demarcated. Histologically, the tumor was composed of cuboidal cells with clear cytoplasm, thus forming trabecular and insular nests. Immunohistochemically, the tumor cells were strongly positive for chromogranin. An electron microscopic examination revealed the tumor cells to contain neuroendocrine secretory granules, abundant lipid droplets, and some crystalloid bodies in the cytoplasm. We conclusively diagnosed it to be a pancreatic clear cell endocrine tumor. Such tumors not associated with von Hippel-Lindau disease are extremely rare.

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Pancreatic Involvement in Von Hippel-Lindau Disease

Cited by 13 publications

References 27 publications

Role of VHL gene mutation in human renal cell carcinoma

Role of VHL gene mutation in human renal cell carcinoma

Pancreatic Lesions in von Hippel-Lindau Syndrome: Report of a Case

Clear Cell Endocrine Tumor of the Pancreas Which is Not Associated with von Hippel-Lindau Disease: Report of a Case

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