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Multiple Endocrine Neoplasia Type 1

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https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#1
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28733468/management-impact-effects-on-quality-of-life-and-prognosis-in-men1
#2
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. Since the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counselling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28729773/is-new-american-thyroid-association-risk-classification-for-hereditary-medullary-thyroid-carcinoma-applicable-to-chinese-patients-a-single-center-study
#3
Xiwei Zhang, Dangui Yan, Junyi Wang, Hanfeng Wan, Yongxia Zhang, Yabing Zhang, Yuqin He, Wensheng Liu, Bin Zhang
OBJECTIVE: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy. METHODS: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected...
June 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28689311/frequency-of-familial-pituitary-adenoma-syndromes-among-patients-with-functioning-pituitary-adenomas-in-a-reference-outpatient-clinic
#4
N V Marques, L Kasuki, M C Coelho, C H A Lima, L E Wildemberg, M R Gadelha
INTRODUCTION: Pituitary adenomas (PA) occur mainly as sporadic disease, but familial syndromes are found in approximately 5% of cases. Identification of these syndromes is important in order to diagnose individuals at risk at an earlier stage. AIMS: To evaluate the frequency of familial PA in a reference outpatient clinic devoted to PA treatment and to identify family members suspected to have pituitary disease. METHODS: Patients with PA were interviewed with respect to the presence of family members with diagnosis of PA or with signs or symptoms suggestive of them...
July 8, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28674121/multiple-endocrine-neoplasia-and-hyperparathyroid-jaw-tumor-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#5
REVIEW
Jonathan D Wasserman, Gail E Tomlinson, Harriet Druker, Junne Kamihara, Wendy K Kohlmann, Christian P Kratz, Katherine L Nathanson, Kristian W Pajtler, Andreu Parareda, Surya P Rednam, Lisa J States, Anita Villani, Michael F Walsh, Kristin Zelley, Joshua D Schiffman
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28667082/new-hif2a-inhibitors-implications-for-pheochromocytomas-and-paragangliomas
#6
Rodrigo Almeida Toledo
Two recent independent studies published in Nature show robust responses of clear cell renal cell carcinoma (ccRCC) cell lines, preclinical ccRCC xenograft models and, remarkably, a patient with progressive ccRCC despite receiving multiple lines of treatment, to the long-awaited, recently developed inhibitors of hypoxia-inducible factor 2-alpha (HIF2α). This Commentary is based on the recognition of similar molecular drivers in ccRCC and the endocrine neoplasias pheochromocytomas and paragangliomas (PPGLs), ultimately leading to stabilization of HIFs...
June 30, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28605116/phaeochromocytoma-in-multiple-endocrine-neoplasia-type-2-ret-codon-specific-penetrance-and-changes-in-management-during-the-last-four-decades
#7
L Mucha, G Leidig-Bruckner, K Frank-Raue, Th Bruckner, M Kroiss, F Raue
OBJECTIVES: We describe phaeochromocytoma (phaeo) penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations and report changes in phaeo diagnosis and management from 1968 to 2015. DESIGN: This retrospective chart review included 309 MEN2 patients from one specialized ambulatory care centre. Phaeo patients were categorized by diagnosis date: early, 1968-1996, n=40, and recent, 1997-2015, n=45. RESULTS: Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46...
June 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28597079/men1-mutations-and-potentially-men1-targeting-mirnas-are-responsible-for-menin-deficiency-in-sporadic-and-men1-syndrome-associated-primary-hyperparathyroidism
#8
Vince Kornél Grolmusz, Katalin Borka, Annamária Kövesdi, Kinga Németh, Katalin Balogh, Csaba Dékány, András Kiss, Anna Szentpéteri, Beatrix Sármán, Anikó Somogyi, Éva Csajbók, Zsuzsanna Valkusz, Miklós Tóth, Péter Igaz, Károly Rácz, Attila Patócs
Inherited, germline mutations of menin-coding MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), while somatic MEN1 mutations are the sole main driver mutations in sporadic primary hyperparathyroidism (PHPT), suggesting that menin deficiency has a central role in the pathogenesis of PHPT. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expression. Our aim was to investigate both the role of MEN1 mutations and potentially MEN1-targeting miRNAs as the underlying cause of menin deficiency in MEN1-associated and sporadic PHPT tissues...
June 8, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28589571/laparoscopic-total-pancreatectomy-for-multiple-endocrine-neoplasia-type-1-syndrome-associated-multifocal-non-functioning-pancreatic-neuroendocrine-tumor-a-case-report
#9
Palanisamy Senthinathan, Samrat Vijaykumar Jankar, Sandeep C Sabnis, Vivek Kaje, Sivakumar Srivatsan Gurumurthy, Natesan Anand Vijai, Vaiyapurigounder Palanisamy Nalankilli, Palanivelu Praveen Raj, Ramakrishanan Parthasarathi, Subbiah Rajapandian, Chinnusamy Palanivelu
Pancreatic neuroendocrine tumors are rare, accounting for less than 3% of all pancreatic tumors. Although laparoscopic pancreas-preserving surgery for managing sporadic pancreatic neuroendocrine tumors has been described in the literature, laparoscopic total pancreatectomy has rarely been reported. We present a 30-year-old man who was incidentally diagnosed with multiple endocrine neoplasia type 1 syndrome with parathyroid hyperplasia and a non-functioning pancreatic neuroendocrine tumor. He underwent laparoscopic total pancreatectomy with splenectomy...
June 6, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28567607/pancreatic-neuroendocrine-tumors-in-men1-disease-a-mono-centric-longitudinal-and-prognostic-study
#10
S Chiloiro, F Lanza, A Bianchi, G Schinzari, M G Brizi, A Giampietro, V Rufini, F Inzani, A Giordano, G Rindi, A Pontecorvi, L De Marinis
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is an inherited endocrine neoplastic syndrome associated with a greater risk of endocrine tumor development like pancreatic neuroendocrine tumors (p-NET), with different clinical characteristics from sporadic ones. This paper aims to compare clinical, hystological and morphological aspects of p-NET in patients affected from MEN1 (MEN1+) and not-affected ones (MEN1-). METHODS: We performed a retrospective observational study...
May 31, 2017: Endocrine
https://www.readbyqxmd.com/read/28566601/challenging-differential-diagnosis-of-hypergastremia-and-hyperglucagonemia-with-chronic-renal-failure-report-of-a-case-with-multiple-endocrine-neoplasia-type-1
#11
Takaaki Murakami, Takeshi Usui, Yuji Nakamoto, Akio Nakajima, Yuki Mochida, Sumio Saito, Takahiro Shibayama, Nobuhisa Yamazaki, Tomonobu Hatoko, Tomoko Kato, Shin Yonemitsu, Seiji Muro, Shogo Oki
A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective arterial calcium injection (SACI) testing revealed hyperglucagonemia and hypergastrinemia with positive gastrin responses. A pathological examination revealed glucagonoma and a lymph node gastrinoma...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28562256/sporadic-insulinoma-presenting-as-early-morning-night-terrors
#12
Daniel Beisang, Gregory P Forlenza, Mark Luquette, Kyriakie Sarafoglou
A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed...
May 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28553179/peptide-receptor-radionuclide-therapy-with-177-lu-dotatate-for-metastatic-neuroendocrine-tumor-occurring-in-association-with-multiple-endocrine-neoplasia-type-1-and-cushing-s-syndrome
#13
Chinna Naik, Sandip Basu
Neuroendocrine tumor (NET) occurring in association with other endocrine syndromes forms a distinct entity. The aim was to assess the therapy response profile of the routine peptide receptor radionuclide therapy (PRRT) in this relatively uncommon but clinically challenging subgroup of patients. A retrospective analysis was undertaken from the case records from those who were treated with (177)Lu-DOTATATE for metastatic NET. In addition to assessing the therapeutic efficacy, emphasis was also given to study lesional sites and scan pattern...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28504695/epigenetic-pathway-inhibitors-represent-potential-drugs-for-treating-pancreatic-and-bronchial-neuroendocrine-tumors
#14
K E Lines, M Stevenson, P Filippakopoulos, S Müller, H E Lockstone, B Wright, S Grozinsky-Glasberg, A B Grossman, S Knapp, D Buck, C Bountra, R V Thakker
Cancer is associated with alterations in epigenetic mechanisms such as histone modifications and methylation of DNA, and inhibitors targeting epigenetic mechanisms represent a novel class of anti-cancer drugs. Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs), which may have 5-year survivals of <50% and as low as 5%, respectively, represent targets for such drugs, as >40% of PNETs and ~35% of BNETs have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacting with histone methyltransferases...
May 15, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28503312/germline-and-somatic-genetic-changes-in-multicentric-tumors-obtained-from-a-patient-with-multiple-endocrine-neoplasia-type-1
#15
Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima, Shumpei Ohnami, Kenichi Urakami, Yasue Horiuchi, Yoshimi Kiyozumi, Masato Abe, Takashi Nakajima, Teiichi Sugiura, Katsuhiko Uesaka, Masatoshi Kusuhara, Ken Yamaguchi
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28476233/genetics-of-multiple-endocrine-neoplasia-type-1-multiple-endocrine-neoplasia-type-2-syndromes
#16
REVIEW
Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs
Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471129/management-of-a-multiple-endocrine-neoplasia-type-1-during-pregnancy-a-case-report-and-review-of-the-literature
#17
REVIEW
Halil Korkut Daglar, Ayse Kirbas, Ebru Biberoglu, Bergen Laleli, Nuri Danisman
Multiple Endocrine Neoplasia Type 1 (MEN1) or Wermer's syndrome is a rare hereditary endocrine syndrome with high penetrance caused by mutations in MEN1 tumor suppressor gene. MEN1 is characterized by hyperplasia or tumoral enlargement in a number of endocrine organs (parathyroid glands, pancreas, pituitary gland, adrenal gland) and it could be hormonally active or inactive. MEN1 is a significant cause of morbidity due to hormone secretion and mass effect. Since it is a rare condition, there are no guidelines with respect to the follow-up of pregnant women with MEN1...
July 2016: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28470558/phase-ii-study-of-lanreotide-autogel-in-japanese-patients-with-unresectable-or-metastatic-well-differentiated-neuroendocrine-tumors
#18
Tetsuhide Ito, Yoshitaka Honma, Susumu Hijioka, Atsushi Kudo, Akira Fukutomi, Akira Nozaki, Yasutoshi Kimura, Fuyuhiko Motoi, Hiroyuki Isayama, Izumi Komoto, Seiichi Hisamatsu, Akihiro Nakajima, Akira Shimatsu
Background Lanreotide is a long-acting somatostatin analog with demonstrated efficacy against enteropancreatic neuroendocrine tumor (NET) in the phase III (CLARINET) study. Materials and Methods In this single-arm study, Japanese patients with grade (G) 1/G2 NET received lanreotide (120 mg/4 weeks) for 48 weeks. Those who completed the study were enrolled in a long-term extension study. The primary endpoint was the clinical benefit rate (CBR) defined as a complete response, partial response (PR), or stable disease (SD) over 24-weeks...
August 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28469779/analysis-of-differentially-expressed-micrornas-in-men1-parathyroid-adenomas
#19
Ettore Luzi, Simone Ciuffi, Francesca Marini, Carmelo Mavilia, Gianna Galli, Maria Luisa Brandi
Multiple Endocrine Neoplasia type 1 (MEN1) syndrome is a rare complex tumor-predisposing hereditary disorder, inherited in an autosomal dominant manner (OMIM 131100). MEN1 is characterized by tumors of the parathyroids, the neuroendocrine cells of the gastro-entero-pancreatic tract, and the anterior pituitary. The molecular mechanisms that control parathyroid tumorigenesis are still poorly understood. Here we studied the global microRNAs (miRNAs) expression profile in MEN1 parathyroid adenomas to understand the role of these regulatory factors in MEN1 parathyroid tumorigenesis...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#20
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
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