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Multiple Endocrine Neoplasia Type 1

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https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#1
Xavier M Keutgen, Suresh Kumar, Sudheer Gara, Myriem Boufraqech, Sunita Agarwal, Ralph H Hruban, Naris Nilubol, Martha Quezado, Richard Finney, Maggie Cam, Electron Kebebew
BACKGROUND: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype...
November 17, 2017: Cancer
https://www.readbyqxmd.com/read/29143084/can-we-do-even-better-preoperative-imaging-overestimates-the-tumor-size-in-pancreatic-neuroendocrine-neoplasms-associated-with-multiple-endocrine-neoplasia-type-1
#2
https://www.readbyqxmd.com/read/29138914/impact-of-tailored-parathyroidectomy-for-treatment-of-primary-hyperparathyroidism-in-patients-with-multiple-endocrine-neoplasia-type-1
#3
Kiyomi Horiuchi, Momoko Sakurai, Kento Haniu, Erin Nagai, Hiroki Tokumitsu, Yusaku Yoshida, Yoko Omi, Akiko Sakamoto, Takahiro Okamoto
BACKGROUND: Whether total parathyroidectomy (TPTX) or subtotal parathyroidectomy (SPTX) should be performed for primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia type 1 (MEN1) is controversial. At our institution, the parathyroidectomy strategy is based on the number of enlarged intraoperative parathyroid glands. We retrospectively analyzed our parathyroidectomy procedures. METHODS: Data of PHPT treatment in patients with MEN1 who underwent parathyroidectomy from 1982 to 2012 at our department were retrospectively collected...
November 14, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#4
Stephen J Marx, Delmar Muniz Lourenco
Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR...
November 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29134609/expression-of-p27-kip1-and-p18-ink4c-in-human-multiple-endocrine-neoplasia-type-1-related-pancreatic-neuroendocrine-tumors
#5
E B Conemans, G M Raicu-Ionita, C R C Pieterman, K M A Dreijerink, O M Dekkers, A R Hermus, W W de Herder, M L Drent, A N A van der Horst-Schrivers, B Havekes, P H Bisschop, G J Offerhaus, I H M Borel Rinkes, G D Valk, H Th M Timmers, M R Vriens
PURPOSE: Pancreatic neuroendocrine tumors are a major manifestation of multiple endocrine neoplasia type 1 (MEN1). This tumor syndrome is caused by germline mutations in MEN1, encoding menin. Insight into pathogenesis of these tumors might lead to new biomarkers and therapeutic targets for these patients. Several lines of evidence point towards a role for p27(Kip1) and p18(Ink4c) in MEN1-related tumor development in animal models for MEN1, but their contribution to human MEN1-related pancreatic neuroendocrine tumor development is not known...
November 13, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29128174/health-related-quality-of-life-in-men1-patients-compared-with-other-chronic-conditions-and-the-united-states-general-population
#6
Benjamin J Peipert, Sneha Goswami, Susan E Yount, Cord Sturgeon
BACKGROUND: Health-related quality of life (HRQOL) in multiple endocrine neoplasia type-1 (MEN-1) is poorly described. HRQOL in MEN-1 was compared with other chronic conditions and the US general population. METHODS: Adults aged ≥18 years recruited from an MEN-1 support group (n=153) completed the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile. MEN-1 scores were compared with PROMIS scores reported in peer-reviewed literature from back pain (n=218), cancer (n=310), congestive heart failure (CHF; n=60), chronic obstructive pulmonary disease (COPD; n=79), major depressive disorder (n=196), rheumatoid arthritis (RA; n=521), neuroendocrine tumors (NET; n=619), and primary hyperparathyroidism (PHPT; n=45) cohorts...
November 8, 2017: Surgery
https://www.readbyqxmd.com/read/29122330/genotype-phenotype-pancreatic-neuroendocrine-tumor-relationship-in-multiple-endocrine-neoplasia-type-1-patients-a-23-year-experience-at-a-single-institution
#7
Ioannis Christakis, Wei Qiu, Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs, Nancy D Perrier, Jeffrey E Lee
BACKGROUND: The aim of this study was to investigate the genotype-phenotype relationship of pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 treated at our institution. METHODS: We conducted a retrospective chart review of all patients with multiple endocrine neoplasia type 1 treated at our center from January 1993 to December 2015. Presence of a pancreatic neuroendocrine tumor was determined based on imaging performed at any time from presentation to conclusion of follow-up...
November 6, 2017: Surgery
https://www.readbyqxmd.com/read/29092962/multiple-endocrine-neoplasia-type-1-presenting-with-refractory-seizures
#8
Banshi Lal Kumawat, Chandramohan Sharma, Mohit Janakkumar Shah, Maulik Panchal
We report a case of 29-year-old woman referred to us for management of refractory epilepsy. Under observation, she was detected to have recurrent hypoglycaemia during the episodes of seizures. On investigation, she was found to have hyperinsulinemic hypoglycaemia. Her triple-phase CT scan of abdomen showed neuroendocrine tumour of pancreatic head, with bilateral renal calculi. Screening of other endocrine glands revealed pituitary microadenoma and parathyroid adenoma on imaging, which was also supported by biochemical and hormonal profile...
November 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29077664/a-case-report-of-recurrent-severe-peripartum-cardiomyopathy-complicated-by-factor-v-leiden-and-multiple-endocrine-neoplasia-type-1-a-management-conundrum
#9
Amanda M Kleiman, Jessica L Sheeran, Mohamed Tiouririne
Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29075857/preoperative-imaging-overestimates-the-tumor-size-in-pancreatic-neuroendocrine-neoplasms-associated-with-multiple-endocrine-neoplasia-type-1
#10
V Polenta, E P Slater, P H Kann, M B Albers, J Manoharan, A Ramaswamy, A H Mahnken, D K Bartsch
BACKGROUND: Radiological tumor size of non-functioning pancreatic neuroendocrine neoplasms (Nf-pNENs) associated with multiple endocrine neoplasia type 1 (MEN1) is a crucial parameter to indicate surgery. The aim of this study was to compare radiological size (RS) and pathologic size (PS) of MEN1 associated with pNENs. METHODS: Prospectively collected data of MEN1 patients who underwent pancreatic resections for pNENs were retrospectively analyzed. RS was defined as the largest tumor diameter measured on endoscopic ultrasound (EUS), magnetic resonance imaging (MRI) or computed tomography (CT)...
October 26, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29072081/cystic-pancreatic-neuroendocrine-tumors-cpnets-a-systematic-review-and-meta-analysis-of-case-series
#11
Luis Hurtado-Pardo, Javier A Cienfuegos, Miguel Ruiz-Canela, Pablo Panadero, Alberto Benito, José Luis Hernández Lizoain
Cystic pancreatic neuroendocrine tumors represent 13% of all neuroendocrine tumors. The aim of this study is to analyze the phenotype and biologic behavior of resected cystic neuroendocrine tumors. A systematic review and meta-analysis were conducted until September 2016 using a search in Medline, Scopus, and EMBASE with the terms "cystic pancreatic endocrine neoplasm", "cystic islets tumors" and "cystic islets neoplasms". From the 795 citations recovered 80 studies reporting on 431 patients were selected. 87...
November 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29066490/novel-germline-p-gly42val-men1-mutation-in-a-family-with-multiple-endocrine-neoplasia-type-1-excellent-response-of-prolactinoma-to-cabergoline
#12
Viktoria F Koehler, Kerstin Jungheim, Ute Groß, Donato Iacovazzo, Alexander Mann, Márta Korbonits
We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the MEN1 gene (p...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29049491/dermal-hyperneury-and-multiple-sclerotic-fibromas-in-multiple-endocrine-neoplasia-type-2a-syndrome
#13
Victoria Alegría-Landa, Margarita Jo-Velasco, Mercedes Robledo, Luis Requena
Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC)...
October 18, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29040209/inherited-and-acquired-clinical-phenotypes-associated-with-neuroendocrine-tumors
#14
Rory E Nicholaides, M Teresa de la Morena
PURPOSE OF REVIEW: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states. RECENT FINDINGS: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states...
December 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29039523/analysis-of-men1-c-482g-a-p-gly161asp-mutation-in-a-pedigree-with-familial-multiple-endocrine-neoplasia-type-1
#15
Yuanyuan Luo, Yongxiang Sun, Xiaofan Zhu, Xialian Li
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, which in turn are caused by mutations in the MEN1 gene. In the present study, a case of a 46‑year‑old woman who was clinically diagnosed with MEN1 based on the presence of prolactinoma and bilateral parathyroid adenoma was reported. The patient's serum prolactin (PRL) levels were successfully controlled via bromocriptine therapy, and the serum levels of calcium and intact parathyroid hormone (PTH) reduced one day following parathyroidectomy...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#16
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29022641/-familial-isolated-pituitary-adenomas-fipa-case-report-of-four-families-and-review-of-literature
#17
Joanna Elżbieta Malicka, Joanna Świrska, Maria Kurowska, Marta Dudzińska, Jerzy S Tarach
BackgroundThe majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. ObjectivesThe aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28991228/deletion-of-menin-in-craniofacial-osteogenic-cells-in-mice-elicits-development-of-mandibular-ossifying-fibroma
#18
S Lee, P Liu, R Teinturier, J Jakob, M Tschaffon, A Tasdogan, R Wittig, S Hoeller, D Baumhoer, L Frappart, S Vettorazzi, P Bertolino, C Zhang, J Tuckermann
Ossifying fibroma (OF) is a rare benign tumor of the craniofacial bones that can reach considerable and disfiguring dimensions if left untreated. Although the clinicopathological characteristics of OF are well established, the underlying etiology has remained largely unknown. Our work indicates that Men1-a tumor suppressor gene responsible of Multiple endocrine neoplasia type 1-is critical for OF formation and shows that mice with targeted disruption of Men1 in osteoblasts (Men1(Runx2Cre)) develop multifocal OF in the mandible with a 100% penetrance...
October 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28969599/genetic-analysis-of-parathyroid-and-pancreatic-tumors-in-a-patient-with-multiple-endocrine-neoplasia-type-1-using-whole-exome-sequencing
#19
Bo-Young Kim, Mi-Hyun Park, Hae-Mi Woo, Hye-Yeong Jo, Ji Hoon Kim, Hyung Jin Choi, Soo Kyung Koo
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated with the different types of tumors...
October 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28940393/clinical-features-and-prognosis-of-thymic-neuroendocrine-tumors-associated-with-multiple-endocrine-neoplasia-type-1-a-single-center-study-systematic-review-and-meta-analysis
#20
Lei Ye, Weixi Wang, Naykky Singh Ospina, Lei Jiang, Ioannis Christakis, Jieli Lu, Yulin Zhou, Wei Zhu, Yanan Cao, Shu Wang, Nancy D Perrier, William F Young, Guang Ning, Weiqing Wang
OBJECTIVE: Thymic neuroendocrine tumor (TH-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Identifying risk factors for the development of these rare tumors and prognostic factors for clinical outcomes will be helpful in clinical practice. DESIGN AND PATIENTS: We performed a retrospective analysis of patients treated for TH-NET associated with MEN1 in a single institution and meta-analysis of literature reports. We used a fixed effect model to pool results across studies to evaluate the prevalence, clinical features, and prognosis...
September 20, 2017: Clinical Endocrinology
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