scholarly journals Genetics of neuroendocrine tumours, hereditary tumour syndromes

2013 ◽  
Vol 154 (39) ◽  
pp. 1541-1548 ◽  
Author(s):  
Péter Igaz
Keyword(s):  
Neuroendocrine Tumours ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Neurofibromatosis Type ◽  
Pathophysiological Mechanisms ◽  
Von Hippel Lindau ◽  
Mapk Signalling ◽  
Von Hippel Lindau Syndrome ◽  
Mtor Signalling

Neuroendocrine tumours occur in some hereditary tumour syndromes, and the molecular pathophysiological mechanisms involved in these are also important in their sporadic counterparts which representing the majority of neuroendocrine tumours. These syndromes include multiple endocrine neoplasia type 1, von Hippel–Lindau syndrome, neurofibromatosis type 1 and tuberous sclerosis. All these follow an autosomal dominant inheritance. The primarily affected molecular pathways are Ras-MAPK signalling, hypoxia induced factor 1α, and mTOR signalling that are also involved in sporadic tumours and may even represent potential molecular targets of therapy. In this review, the major characteristics of hereditary tumour syndromes, their molecular genetics and the pathophysiological mechanisms involved in sporadic tumours are discussed. Orv. Hetil., 2013, 154, 1541–1548.

scholarly journals Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL)

2015 ◽  
Vol 1 (6) ◽  
pp. 368-370
Author(s):  
Karyn Haitz ◽  
Anar Mikailov ◽  
Ruth Foreman ◽  
Mary Jane Zimarowski ◽  
Su-Jean Seo
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

2014 ◽  
Vol 2014 ◽  
pp. 1-14 ◽  
Author(s):  
Rute Martins ◽  
Maria João Bugalho
Keyword(s):  
Genetic Testing ◽  
Somatic Mutations ◽  
Parasympathetic Nervous System ◽  
Multiple Endocrine Neoplasia Type ◽  
Neurofibromatosis Type ◽  
Clinical Aspects ◽  
Von Hippel Lindau

Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or pelvic localization. Parasympathetic paragangliomas are generally located at the head or neck. Knowledge concerning the familial forms of paragangliomas has greatly improved in recent years. Additionally to the genes involved in the classical syndromic forms:VHLgene (von Hippel-Lindau),RETgene (Multiple Endocrine Neoplasia type 2), andNF1gene (Neurofibromatosis type 1), 10 novel genes have so far been implicated in the occurrence of paragangliomas/pheochromocytomas:SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EGLN1, HIF2A,andKIF1B. It is currently accepted that about 35% of the paragangliomas cases are due to germline mutations in one of these genes. Furthermore, somatic mutations ofRET, VHL, NF1, MAX, HIF2A,andH-RAScan also be detected. The identification of the mutation responsible for the paraganglioma/pheochromocytoma phenotype in a patient may be crucial in determining the treatment and allowing specific follow-up guidelines, ultimately leading to a better prognosis. Herein, we summarize the most relevant aspects regarding the genetics and clinical aspects of the syndromic and nonsyndromic forms of pheochromocytoma/paraganglioma aiming to provide an algorithm for genetic testing.

Inherited endocrine syndromes and multiple endocrine neoplasia

2018 ◽  
pp. 393-413
Author(s):  
Helen E. Turner ◽  
Richard Eastell ◽  
Ashley Grossman
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine System ◽  
Neurofibromatosis Type ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Characteristic Features ◽  
Albright Syndrome

This chapter discusses the characteristic features, epidemiology, pathophysiology, clinical features, complications, and management of endocrine-related genetic disorders and diseases such as McCune–Albright syndrome, endocrine tumours in neurofibromatosis type 1, Von Hippel–Lindau disease (VHL), Carney complex, Cowden syndrome, and multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2, respectively). It also provides some remarks on multiple endocrine neoplasia type 4 (MEN4). Given the genetic basis of disorder manifestation, the chapter discusses the relation of disease severity to the genome and genetic variations of the causes for endocrine system disorders.

scholarly journals Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature

2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-226702 ◽  
Author(s):  
Subhanudh Thavaraputta ◽  
Suzanne Graham ◽  
Ana M Rivas Mejia ◽  
Joaquin Lado-Abeal
Keyword(s):  
Obstructive Jaundice ◽  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumour ◽  
Neurofibromatosis Type ◽  
Ampulla Of Vater ◽  
Duodenal Wall ◽  
Von Hippel Lindau ◽  
Tract Dilation ◽  
Von Hippel Lindau Syndrome

Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. We report the case of a patient with NF1 who presented with obstructive jaundice due to multiple firm nodules around the ampulla of Vater. A pancreaticoduodenectomy was performed and revealed a 1 cm duodenal/ampullary mass which stained positive for somatostatin, together with a GIST also found on the duodenal wall. Despite its rarity, ampullary somatostatinomas should be considered in the differential diagnosis of biliary tract dilation in patients with NF1.

scholarly journals Molecular Basis of Primary Hyperparathyroidism

2010 ◽  
Vol 2 (2) ◽  
pp. 63-70
Author(s):  
Peyman Björklund ◽  
Lee F Starker ◽  
Annabelle L Fonseca ◽  
Tobias Carling
Keyword(s):  
Primary Hyperparathyroidism ◽  
Genetic Predisposition ◽  
Molecular Basis ◽  
Multiple Endocrine Neoplasia ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Dominant Inheritance ◽  
The Past ◽  
Endocrine Neoplasia

Abstract During the past decade and a half, studies of genetic predisposition, parathyroid tumorigenesis, and molecular genetics of familial hyperparathyroid disorders have started to unveil the molecular basis of pHPT. Primary HPT is found in several distinct disorders with autosomal dominant inheritance such as in multiple endocrine neoplasia type 1 (MEN1), MEN2A, the HPT-jaw tumor syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHPT), autosomal dominant mild hyperparathyroidism (ADMH), and neonatal severe HPT (NSHPT).

scholarly journals Neuropeptide Y expression in phaeochromocytomas: relative absence in tumours from patients with von Hippel–Lindau syndrome

2007 ◽  
Vol 193 (2) ◽  
pp. 225-233 ◽  
Author(s):  
Susannah Cleary ◽  
Jacqueline K Phillips ◽  
Thanh-Truc Huynh ◽  
Karel Pacak ◽  
Abdel G Elkahloun ◽  
...  
Keyword(s):  
Neuropeptide Y ◽  
Neuroendocrine Tumours ◽  
Secretory Proteins ◽  
Von Hippel Lindau ◽  
Men 2 ◽  
Hereditary Syndrome ◽  
Hereditary Factors ◽  
Von Hippel Lindau Syndrome ◽  
Proteins And Peptides

Phaeochromocytomas are rare neuroendocrine tumours that produce catecholamines and numerous secretory proteins and peptides, including neuropeptide Y (NPY), a vasoactive peptide with influences on blood pressure. The production of catecholamines and NPY by phaeochromocytomas is highly variable. This study examined influences of hereditary factors and differences in catecholamine production on tumour expression of NPY, as assessed by quantitative PCR, enzyme immunoassay and immunohistochemistry. Phaeochromocytomas included hereditary adrenaline-producing tumours (adrenergic phenotype) in multiple endocrine neoplasia type 2 (MEN 2), predominantly noradrenaline-producing tumours (noradrenergic phenotype) in von Hippel–Lindau (VHL) syndrome, and other adrenergic and noradrenergic tumours where there was no clear hereditary syndrome. NPY levels in phaeochromocytomas from VHL patients were lower (P<0.0001) than in those from MEN 2 patients for both mRNA (84-fold difference) and the peptide (99-fold difference). These findings were supported by immunohistochemistry. NPY levels were also lower in VHL tumours than in those where there was no hereditary syndrome. Relative absence of expression of NPY in phaeochromocytomas from VHL patients when compared with other groups appears to be largely independent of differences in catecholamine production and is consistent with a unique phenotype in VHL syndrome.

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