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.

scholarly journals Neurofibromatosis genetic testing: cohort study

2020 ◽  
pp. 10-11
Author(s):  
К.О. Карандашева ◽  
М.С. Пащенко ◽  
К.И. Аношкин ◽  
Е.Б. Кузнецова ◽  
А.С. Танас ◽  
...  
Keyword(s):  
Cohort Study ◽  
Genetic Testing ◽  
Sanger Sequencing ◽  
Clinical Signs ◽  
Neurofibromatosis Type ◽  
Pathogenic Mutation ◽  
Parallel Sequencing ◽  
Dependent Probe

Исследование проведено на материале ДНК периферической крови 1000 пациентов с клиническими признаками нейрофиброматоза 1-го типа или нейрофиброматоза 2-го типа. Молекулярно-диагностический комплекс включал высокопроизводительное параллельное секвенирование, мультиплексную амплификацию лигированных зондов, секвенирование по Сэнгеру. Клинический диагноз был подтвержден в 70,2% случаев, мутации в генах NF1 и NF2 были выявлены у 672 и 30 пациентов соответственно. The study was conducted of DNA from peripheral blood of 1000 patients with clinical signs of neurofibromatosis type 1 or neurofibromatosis type 2. The genetic testing included massive parallel sequencing, multiplex ligation-dependent probe amplification, Sanger sequencing. The pathogenic mutation was identified in 70.2% of the cases, affecting NF1 and NF2 genes in 672 and 30 cases, respectively.

Coincidence of Neurofibromatosis Type 1 and Multiple Endocrine Neoplasia Type 2

2008 ◽  
Vol 18 (6) ◽  
pp. 277-281 ◽  
Author(s):  
Dario Cotesta ◽  
Zoran Erlic ◽  
Luigi Petramala ◽  
Antonella Verrienti ◽  
Giuseppe Cavallaro ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Neurofibromatosis Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

2011 ◽  
Vol 18 (6) ◽  
pp. R253-R276 ◽  
Author(s):  
Jenny Welander ◽  
Peter Söderkvist ◽  
Oliver Gimm
Keyword(s):  
Adrenal Glands ◽  
Age Of Onset ◽  
Neurofibromatosis Type ◽  
Susceptibility Genes ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Hereditary Tumor Syndromes ◽  
Cellular Pathways

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC–PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney–Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes includingKIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, andMAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

Familial tumour syndromes

2010 ◽  
pp. 482-493
Author(s):  
George Samandouras
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Subependymal Giant Cell Astrocytoma ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Giant Cell Astrocytoma

Chapter 8.18 covers familial tumour syndromes, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), von Hippel-Lindau (VHL) disease and capillary haemangioblastoma, tuberous sclerosis and subependymal giant cell astrocytoma (SEGA), and Lhermitte-Duclos disease.

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.

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.

A form of Autoimmune Diabetes in Adults Named LADA – An Update on Essential Features and Controversies

2019 ◽  
Vol 15 (3) ◽  
pp. 172-173 ◽  
Author(s):  
Valdemar Grill ◽  
Bjørn O. Åsvold
Keyword(s):  
Genetic Background ◽  
Clinical Utility ◽  
Autoimmune Diabetes ◽  
Classical Type ◽  
Phenotypic Characteristics ◽  
Latent Autoimmune Diabetes ◽  
The Impact

Latent Autoimmune Diabetes in the Adult, LADA has been investigated less than “classical” type 1 and type 2 diabetes and the criteria for and the relevance of a LADA diagnosis has been challenged. Despite the absence of a genetic background that is exclusive to LADA, this form of diabetes displays phenotypic characteristics that distinguish it from other forms of diabetes. LADA is heterogeneous in terms of the impact of autoimmunity and lifestyle factors, something that poses problems as to therapy and follow-up perhaps particularly in those with marginal positivity. Yet, there appears to be clear clinical utility in classifying individuals as LADA.

scholarly journals Serum urate and cardiovascular events in the DCCT/EDIC study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alicia J. Jenkins ◽  
Barbara H. Braffett ◽  
Arpita Basu ◽  
Ionut Bebu ◽  
Samuel Dagogo-Jack ◽  
...  
Keyword(s):  
Cardiovascular Events ◽  
Serum Urate ◽  
Continuous Variable ◽  
Major Adverse Cardiovascular Events ◽  
Normal Range ◽  
The Metabolic Syndrome ◽  
Routine Measurement

AbstractIn type 2 diabetes, hyperuricemia is associated with cardiovascular disease (CVD) and the metabolic syndrome (MetS), but associations in type 1 diabetes (T1D) have not been well-defined. This study examined the relationships between serum urate (SU) concentrations, clinical and biochemical factors, and subsequent cardiovascular events in a well-characterized cohort of adults with T1D. In 973 participants with T1D in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study (DCCT/EDIC), associations were defined between SU, measured once in blood collected 1997–2000, and (a) concurrent MetS and (b) incident ‘any CVD’ and major adverse cardiovascular events (MACE) through 2013. SU was higher in men than women [mean (SD): 4.47 (0.99) vs. 3.39 (0.97) mg/dl, respectively, p < 0.0001], and was associated with MetS features in both (men: p = 0.0016; women: p < 0.0001). During follow-up, 110 participants (11%) experienced “any CVD”, and 53 (5%) a MACE. Analyzed by quartiles, SU was not associated with subsequent CVD or MACE. In women, SU as a continuous variable was associated with MACE (unadjusted HR: 1.52; 95% CI 1.07–2.16; p = 0.0211) even after adjustment for age and HbA1c (HR: 1.47; 95% CI 1.01–2.14; p = 0.0467). Predominantly normal range serum urate concentrations in T1D were higher in men than women and were associated with features of the MetS. In some analyses of women only, SU was associated with subsequent MACE. Routine measurement of SU to assess cardiovascular risk in T1D is not merited.Trial registration clinicaltrials.gov NCT00360815 and NCT00360893.

Insulin Dose Adjustment Following Bariatric Surgery, a Review of Available Literature

2021 ◽  
pp. 193229682110288
Author(s):  
Lynn E. Kassel ◽  
Jessica J. Berei ◽  
Jamie M. Pitlick ◽  
Joel E. Rand
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Bariatric Surgery ◽  
Type 2 Diabetes Mellitus ◽  
Dose Adjustment ◽  
Insulin Dose ◽  
Appraisal Tool

Bariatric surgery is a known and effective treatment for type 2 diabetes mellitus. Patients with type 1 diabetes mellitus and exogenous insulin-requiring type 2 diabetes mellitus require adjusted insulin dosing after surgery to avoid hypoglycemia. This review describes insulin dose adjustments following a variety of bariatric procedures. After searching the available literature and assessing for eligibility, 8 articles were included. The Johns Hopkins Research Evidence Appraisal Tool for literature appraisal was used. The results of this review reveal insulin dose adjustment varies based upon surgical procedure type and time of follow-up from the procedure.

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