Endocrine Pancreatic Tumors in von Hippel-Lindau Disease

Corcos, Olivier; Couvelard, Anne; Giraud, Sophie; Vullierme, Marie‐Pierre; O’Toole, Dermot; Rebours, Vinciane; Stievenart, J.L.; Penfornis, A.; Niccoli-Sire, Patricia; Baudin, Éric; Sauvanet, Alain; Lévy, Philippe; Ruszniewski, Philippe; Richard, Stéphane; Hammel, Pascal

doi:10.1097/mpa.0b013e31815f394a

Cited by 83 publications

(69 citation statements)

References 43 publications

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“…32 Pancreatic tumours occur in 5-10% of cases and are usually solid non-secretory islet cell tumours tumours best detected by contrast enhanced MRI with early arterial phase imaging.A high frequency of that malignancy has been reported in VHL associated islet cell tumours and surgery is indicated in tumours 43 cm. 33,34 Pancreatic tumours with cystic components are microcystic cystadenomas. 35 Other features Endolymphatic sac tumours (ELST) can be detected by MRI or CT imaging in up to 11% of patients.…”

Section: Pancreasmentioning

confidence: 99%

von Hippel–Lindau disease: A clinical and scientific review

Neumann²,

2011

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Section: Pancreasmentioning

confidence: 99%

von Hippel–Lindau disease: A clinical and scientific review

Neumann²,

2011

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“…6 Possible complications of these lesions include compression of the main pancreatic duct, leading to pancreatitis, 7 and compression or invasion of adjacent organs, which can result in severe upper gastrointestinal hemorrhage, duodenal stenosis, and/or cholangitis. 8 The mean age at which pancreatic NETs are diagnosed in patients with VHL disease is lower than in sporadic cases (35 versus 58 years), 6,9 which is probably due to periodic screening in these patients and may contribute to the better prognosis observed for VHL-associated NETs when compared to sporadic ones. 10 As previously mentioned, pheochromocytomas occur only in type 2 VHL disease, accounting for 10% of all cases.…”

Section: Diagnosis and Clinical Featuresmentioning

confidence: 99%

“…Pancreatic NETs have been described in 11% to 17% of patients with VHL disease. 8 Similar to multiple endocrine neoplasia type 1 (MEN1) syndrome, patients with VHL disease can be associated with precursor lesions including ductuloinsular complexes (nesidioblastosis), islet dysplasia (referring to normal-sized or slightly enlarged islets ,0.5 mm that contain neuroendocrine cells showing loss of the normal spatial and quantitative arrangement of the normal a, b, d, and PP cell types), pancreatic microadenomatosis (when islet dysplasia is between 0.5-5 mm, it is termed microadenoma; multiple microadenomas are termed microadenomatosis), and peliosis of the nontumorous islets 17 ( Figure 2, A and B).…”

Section: Pancreatic Neuroendocrine Proliferationsmentioning

confidence: 99%

“…The identification of local aggressiveness features in these tumors is important as it can lead to life-threatening complications, such as severe upper gastrointestinal hemorrhage, duodenal stenosis, and/or cholangitis. 8 …”

Section: Pancreatic Neuroendocrine Proliferationsmentioning

confidence: 99%

“…4,6 A fibrotic focus, defined as a scarlike fibrosclerotic area located within the tumor and containing a variable number of fibroblasts admixed with collagen fibers, was observed in 76% of pancreatic NETs in 1 series. 8 This feature has been shown to be associated with a worse prognosis in several other carcinomas and has been postulated to represent a hypoxic phenomenon in advanced tumors.…”

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Endocrine Manifestations of von Hippel–Lindau Disease

Cassol

Mete

2015

Archives of Pathology &Amp; Laboratory Medicine

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von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.

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Molecular Genetics of Pancreatic Endocrine Tumours

Katabathina

Wilcoxson

Prasad

2016

Encyclopedia of Life Sciences

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Pancreatic tumours with neuroendocrine phenotype comprise 1–2% of all pancreatic tumours and commonly occur in a sporadic setting. Up to 10% of pancreatic neuroendocrine tumours (PNETs) may occur as part of inherited tumour‐predisposing syndromes, including multiple endocrine neoplasia type 1, von Hippel–Lindau disease, neurofibromatosis type 1, tuberous sclerosis complex and glucagon cell adenomatosis. Recent advances in genetics and pathology have allowed better understanding of the role of genetic abnormalities that underlie hereditary and sporadic PNETs. Ongoing research in this fast‐changing field has led to the discovery of mutations in key genes that determine how tumours begin, evolve and behave. Major specific tumour pathways of PNETs involve abnormalities of MEN1 , DAXX / ATRX , and mammalian target of rapamycin ( mTOR ) pathway genes ( PTEN , TSC2, and PIK3CA ). New knowledge in the field of genetics of PNETs potentially permits development of effective diagnostic methods and targeted therapies aimed at improving prognosis and disease‐free survival rates. Key Concepts Hereditary and sporadic pancreatic neuroendocrine tumours (PNETs) demonstrate characteristic histo‐morphology and genetics that determine biology, treatment response and prognosis. Tumour‐predisposing syndromes with increased risk of developing PNETs include multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease (VHL), neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC). Recent advances in the pathology and genetics of PNETs have unraveled the role of genetic abnormalities in tumour pathways that may lead to better diagnostic and therapeutic paradigms. Major specific tumour pathways of PNETs involve abnormalities of MEN1 , DAXX / ATRX , and mammalian target of rapamycin ( mTOR ) pathway genes ( PTEN , TSC2, and PIK3CA ).

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Endocrine Pancreatic Tumors in von Hippel-Lindau Disease

Abstract: Most EPTs in VHL patients are somatostatin receptor scintigraphy-positive and malignant, without correlation with the VHL genotype. Surgical resection is often required, but prognosis of these EPTs seems to be fairly good.

Cited by 83 publications

References 43 publications

von Hippel–Lindau disease: A clinical and scientific review

von Hippel–Lindau disease: A clinical and scientific review

Endocrine Manifestations of von Hippel–Lindau Disease

Molecular Genetics of Pancreatic Endocrine Tumours

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