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Multiple Endocrine Neoplasia Type 1

L Prentice, H K Muller, J R Burgess
No abstract text is available yet for this article.
February 2016: Pathology
D Donegan, N Singh Ospina, R Rodriguez-Gutierrez, Z Al-Hilli, G B Thompson, B L Clarke, W F Young
BACKGROUND: In patients with multiple endocrine neoplasia type 1 (MEN-1), pancreaticoduodenal (PD) neuroendocrine tumors (NETs) are associated with early mortality, yet, the best treatment strategy, remains uncertain. AIM: To assess patient important outcomes (mortality and metastasis) of PD NETs and predictors of outcomes in patients with MEN-1. METHODS: Retrospective cohort of patients with MEN-1 who attended the Mayo Clinic, Rochester, MN from 1997-2014...
October 21, 2016: Clinical Endocrinology
Bin Guan, James M Welch, Julie C Sapp, Hua Ling, Yulong Li, Jennifer J Johnston, Electron Kebebew, Leslie G Biesecker, William F Simonds, Stephen J Marx, Sunita K Agarwal
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP...
October 13, 2016: American Journal of Human Genetics
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Manuel C D F Maia, Delmar Muniz Lourenço, Rachel Riechelmann
BACKGROUND: Approximately 10% of pancreatic neuroendocrine tumors (NET) are associated with familial syndromes, with the most common type being multiple endocrine neoplasia type 1 (MEN-1). However, the available evidence on how to treat NET comes from studies in sporadic NET. CASE REPORT: Here we report the case of a 51-year-old male patient with a metastatic MEN-1-associated pancreatic NET and hypercalcemia related to primary hyperparathyroidism and tumor-secreted parathyroid-related protein...
2016: Oncology Research and Treatment
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
Wouter P Kluijfhout, Wessel M C M Vorselaars, Sandra A M van den Berk, Menno R Vriens, Inne H M Borel Rinkes, Gerlof D Valk, Thijs van Dalen, John M H de Klerk, Bart de Keizer
BACKGROUND: Several reports have shown good performance of fluorine-18 fluorocholine (F-FCH) PET-computed tomography (CT) for parathyroid localization, although overall evidence remains scarce. We collected data from three institutions in the Netherlands and investigated the performance of F-FCH PET-CT as a second-line imaging modality. MATERIALS AND METHODS: We performed a retrospective review of all patients at least 18 years who underwent F-FCH PET-CT for biochemically proven hyperparathyroidism (HPT) and inconclusive ultrasound and sestamibi scintigraphy...
September 8, 2016: Nuclear Medicine Communications
Rinaldo Pellicano, Sharmila Fagoonee, Fiorella Altruda, Mauro Bruno, Giorgio M Saracco, Claudio De Angelis
Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are a heterogeneous group of tumors deriving from the gastrointestinal (GI) neuroendocrine system. Since these neoplasms are usually very small, located deeply within the retroperitoneum or into an extramucosal site of the GI tract and, lastly, because they may be multi-sited, radiological imaging modalities, in combination with endoscopy, are the diagnostic workhorses in patients with GEP-NETs. Endoscopic approach is useful for detection, bioptic diagnosis and curative resection of small GEP-NETs of stomach, duodenum, jejuno-ileum, and colon-rectum...
December 2016: Minerva Endocrinologica
Diala El-Maouche, James Welch, Sunita K Agarwal, Lee S Weinstein, William F Simonds, Stephen J Marx
Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation, but had both RET polymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germline MEN1 mutation and the MEN2-like phenotype with negative full RET gene analysis of pathogenic variants...
May 2016: International Journal of Endocrine Oncology
Ryo Okada, Tatsuo Shimura, Shigeyuki Tsukida, Jin Ando, Yasuhide Kofunato, Tomoyuki Momma, Rei Yashima, Yoshihisa Koyama, Shinichi Suzuki, Seiichi Takenoshita
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant inherited disorder that is classically characterized by the presence of neoplastic lesions of the parathyroid glands, the anterior pituitary gland, and the pancreas. However, MEN1 with concomitant pheochromocytoma is extremely rare. CASE REPORT: We report a case of MEN1 concomitant with pheochromocytoma. A 44-year-old Japanese man, who had undergone total parathyroidectomy due to primary hyperparathyroidism at the age of 18, was referred to our hospital with a complaint of a large abdominal tumor...
December 2016: Surgical Case Reports
Yuichi Sato, Satoru Hashimoto, Ken-Ichi Mizuno, Manabu Takeuchi, Shuji Terai
Gastrointestinal neuroendocrine tumors (GI-NETs) are rare neoplasms, like all NETs. However, the incidence of GI-NETS has been increasing in recent years. Gastric NETs (G-NETs) and duodenal NETs (D-NETs) are the common types of upper GI-NETs based on tumor location. G-NETs are classified into three distinct subgroups: type I, II, and III. Type I G-NETs, which are the most common subtype (70%-80% of all G-NETs), are associated with chronic atrophic gastritis, including autoimmune gastritis and Helicobacter pylori associated atrophic gastritis...
August 14, 2016: World Journal of Gastroenterology: WJG
L Brcic, M Heidinger, H Popper
Primary neuroendocrine tumors (NET) in the mediastinum are very rare and among them thymic NETs are the most common. They represent 5 % of all thymic and mediastinal tumors. The WHO classification from 2015 subdivides thymic NETs into three groups; low grade (typical carcinoid), intermediate grade (atypical carcinoid) and high grade (large cell neuroendocrine carcinoma and small cell carcinoma). Through this change of mediastinal/thymic NET classification into three groups of malignancy, the nomenclature was adapted to that of the lungs, while the histological criteria for each entity remained the same...
September 2016: Der Pathologe
Kristina J Nicholson, Kelly L McCoy, Selma F Witchel, Michael T Stang, Sally E Carty, Linwah Yip
BACKGROUND: Primary hyperparathyroidism is rare in pediatric patients. Our study aim was to compare primary hyperparathyroidism in pediatric (<19 years) and young adult (19-29 years) patients. METHODS: A prospectively collected database from a single, high-volume institution was queried for all patients age <30 years who had initial parathyroidectomy for primary hyperparathyroidism yielding 126/4,546 (2.7%) primary hyperparathyroidism patients representing 39 pediatric and 87 young adult patients...
October 2016: Surgery
Xavier M Keutgen, Naris Nilubol, Sunita Agarwal, James Welch, Craig Cochran, Steve J Marx, Lee S Weinstein, William F Simonds, Electron Kebebew
BACKGROUND: Persistent/recurrent primary hyperparathyroidism (pHPT) occurs frequently in multiple endocrine neoplasia type 1 (MEN1). We assessed the usefulness of intraoperative PTH (IOPTH) and preoperative localizing studies based on the outcome of patients with MEN1-associated pHPT undergoing reoperative surgery. METHODS: A retrospective analysis identified MEN1 patients with persistent/recurrent pHPT. Patient outcome was defined as postoperative serum calcium and PTH levels (cured, persistent or recurrent) at last follow-up...
July 27, 2016: Annals of Surgical Oncology
Zhongxiuzi Gao, Li Zhang, Wenting Xie, Siqi Wang, Xiaorui Bao, Yuli Guo, Houjian Zhang, Qingzhong Hu, Yi Chen, Zeen Wang, Maoqiang Xue, Guanghui Jin
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited syndrome characterized by multiple tumors in the parathyroid glands, endocrine pancreas and anterior pituitary. Recent clinical studies have revealed a strong association between MEN1 syndrome and the risk of developing diabetes mellitus; however, the underlying mechanisms remain unknown. In this study, heterozygous Men1 knockout (Men1(+/-)) mice were used as MEN1 models to investigate MEN1-associated glucose metabolic phenotypes and mechanisms...
September 2016: Journal of Endocrinology
Anna Skalniak, Grzegorz Sokołowski, Agata Jabrocka-Hybel, Jakub Piątkowski, Magdalena Białas, Aleksandra Gilis-Januszewska, Dorota Pach, Alicja Hubalewska-Dydejczyk
The present study describes a family with multiple endocrine neoplasia type 1 (MEN1) caused by a previously undescribed in-frame deletion c.1246_1248delGCC (Ala416del) in the MEN1 gene. Evidence for the pathogenic character of this mutation, which triggers an aggressive clinical outcome, is demonstrated. Aggregation analysis in the tested family was strongly suggestive of causality of the detected mutation. This was supported by the analysis of LOH (loss of heterozygosity) in tumor-derived DNA and by computational analysis of the functional and structural implications of the mutation...
September 2016: Molecular Medicine Reports
Nora Sundahl, Sam Van Slycke, Nele Brusselaers
Non-secreting pheochromocytomas are rare adrenal tumours. We report the case of a clinically and biochemically silent giant pheochromocytoma that presented as bilateral pulmonary embolisms. Successful surgical resection was performed. Multiple endocrine neoplasia 2 syndrome and neurofibromatosis type 1 were clinically excluded. Subsequent DNA analysis of the succinate dehydrogenase complex subunits B and D (SDHB and SDHD), and Von Hippel-Lindau (VHL) genes revealed no mutations.
April 21, 2016: Acta Chirurgica Belgica
Wouter P Kluijfhout, Toni Beninato, Frederick Thurston Drake, Menno R Vriens, Jessica Gosnell, Wen T Shen, Insoo Suh, Chienying Liu, Quan-Yang Duh
BACKGROUND: Primary hyperparathyroidism is the most common manifestation of multiple endocrine neoplasia type 1 (MEN1). Guidelines advocate subtotal parathyroidectomy (STP) or total parathyroidectomy with autotransplantation due to high prevalence of multiglandular disease; however, both are associated with a significant risk of permanent hypoparathyroidism. More accurate imaging and use of intraoperative PTH levels may allow a less extensive initial parathyroidectomy (unilateral clearance, removing both parathyroids with cervical thymectomy) in selected MEN1 patients with primary hyperparathyroidism...
July 11, 2016: World Journal of Surgery
Else Marie Opsahl, Michael Brauckhoff, Ellen Schlichting, Kristin Helset, Johan Svartberg, Katrin Brauckhoff, Lovise Mæhle, Lars Fredrik Engebretsen, Eva Sigstad, Krystyna K Grøholt, Lars Andreas Akslen, Lars Hilmar Jørgensen, Jan Erik Varhaug, Trine Bjøro
BACKGROUND: Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome caused by activating germline mutations in the RET (REarranged during Transfection) proto-oncogene. MEN 2A has a strong (>95%) and age-dependent (5-25 years) clinical penetrance of medullary thyroid carcinoma (MTC). Several major studies have analyzed the predictive and prognostic factors for MEN 2A to find indicators that predict the optimal timing of prophylactic thyroidectomy. The aims of this study were to describe all known RET positive MEN 2A patients diagnosed in Norway and to evaluate the clinical course of MTC, as well as its predictive and prognostic factors...
September 2016: Thyroid: Official Journal of the American Thyroid Association
Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A Stratakis, George Piaditis
OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report. CASE REPORT: A 53-year-old male with a medical history of surgically removed recurrent cardiac myxomas was evaluated for repeated low-pressure vertebral fractures and severe osteoporosis...
January 2016: Hormones: International Journal of Endocrinology and Metabolism
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