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Multiple Endocrine Neoplasia Type 1

Jeffrey A Norton, Geoffrey W Krampitz, George A Poultsides, Brendan C Visser, Douglas L Fraker, H Richard Alexander, Robert T Jensen
OBJECTIVE: To determine the role of reoperation in patients with persistent or recurrent Zollinger-Ellison Syndrome (ZES). BACKGROUND: Approximately, 0% to 60% of ZES patients are disease-free (DF) after an initial operation, but the tumor may recur. METHODS: A prospective database was queried. RESULTS: A total of 223 patients had an initial operation for possible cure of ZES and then were subsequently evaluated serially with cross sectional imaging-computed tomography, magnetic resonance imaging, ultrasound, more recently octreoscan-and functional studies for ZES activity...
April 2018: Annals of Surgery
Toshirou Fukushima, Daisuke Gomi, Noriko Seno, Takahiko Gibo, Takashi Kobayashi, Nodoka Sekiguchi, Hirohide Matsushita, Yoshiko Kasahara, Keiko Mamiya, Tomonobu Koizumi
Pulmonary neuroendocrine tumors are rare, and there have been very few reports regarding optimal chemotherapeutic regimens. Two molecular targeted agents, everolimus and sunitinib, have recently been shown to provide an additional treatment benefit for pulmonary neuroendocrine tumors. However, little information is available regarding the usefulness of streptozocin chemotherapy. Here, we encountered a case of relapsed and refractory mediastinal atypical carcinoid tumor associated with multiple endocrine neoplasia type 1 for various cytotoxic and molecular targeted agents...
January 2018: Case Reports in Oncology
Chung Thong Lim, Márta Korbonits
Pituitary adenomas are the third most common central nervous system tumours and arise from the anterior pituitary within the pituitary fossa. The signs and symptoms of patients with pituitary adenomas vary from 'mass effects' caused by a large adenoma to features secondary to excess pituitary hormones produced by the functioning pituitary adenoma. Detailed histopathological assessment, based on novel classifications and the latest WHO guidelines, helps to categorise pituitary adenomas into different subtypes and identify features that, in some cases, help to predict their behaviour...
March 2, 2018: Endocrine Practice
Francesca Marini, Francesca Giusti, Caterina Fossi, Federica Cioppi, Luisella Cianferotti, Laura Masi, Francesca Boaretto, Stefania Zovato, Filomena Cetani, Annamaria Colao, Maria Vittoria Davì, Antongiulio Faggiano, Giuseppe Fanciulli, Piero Ferolla, Diego Ferone, Paola Loli, Franco Mantero, Claudio Marcocci, Giuseppe Opocher, Paolo Beck-Peccoz, Luca Persani, Alfredo Scillitani, Fabiana Guizzardi, Anna Spada, Paola Tomassetti, Francesco Tonelli, Maria Luisa Brandi
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date. METHODS: The study included the analysis of MEN1 mutation profile in 410 MEN1 patients [370 familial cases from 123 different pedigrees (48 still asymptomatic at the time of this study) and 40 single cases]...
March 1, 2018: Endocrine
Antonio Matrone, Alessandro Brancatella, Piero Marchetti, Enrico Vasile, Ugo Boggi, Rossella Elisei, Filomena Cetani, Claudio Marcocci, Paolo Vitti, Francesco Latrofa
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation...
March 2018: Molecular and Clinical Oncology
Vaishali I Parekh, Sita D Modali, James Welch, William Simonds, Lee Scott Weinstein, Electron Kebebew, Sunita K Agarwal
Extract: Pancreatic neuroendocrine tumors (PNETs/pNETs/p-NETs/PanNETs) are rare endocrine neoplasms that can be either functioning tumors that secrete hormones characteristic of their endocrine cell of origin, or nonfunctioning tumors. The most common functioning PNETs are the insulin-secreting b-cell tumors (insulinomas) that are mainly sporadic, but may also occur in 10% of patients with the hereditary tumor syndrome multiple endocrine neoplasia type 1 (MEN1) (OMIM ID: 131100). Patients with the MEN1 syndrome carry a heterozygous germline inactivating mutation in the MEN1 tumor suppressor gene and specific somatic loss of the normal MEN1 allele, leading to endocrine tumors mainly of the parathyroids, pituitary and pancreas (PNETs)...
February 21, 2018: Endocrine-related Cancer
Nicholas Thomas, John Glod, Claudia Derse-Anthony, Emma L Baple, Nigel Obsborne, Rachel Sturley, Bijay Vaidya, Kate Newbold, Antonia Brooke
Vandetanib is a tyrosine kinase inhibitor (TKI) used in the treatment of medullary thyroid carcinoma occurring in >95% of patients with multiple endocrine neoplasia type 2b (MEN 2b). Pregnancy in women with MEN 2b on vandetanib is previously unreported and has multiple potential implications for both the mother and developing fetus [1]. We describe the case of a 22 year old woman with a background of MEN 2b who was first diagnosed aged 6 presenting with marfanoid habitus, and oral mucosal neuromas. This article is protected by copyright...
February 19, 2018: Clinical Endocrinology
J Breza, J Breza
INTRODUCTION: In the MEN 2A syndrome, which is the most common of the three types of MEN, three endocrine systems are affected simultaneously or subsequently by the development of tumours manifested by medullary thyroid gland carcinoma, pheochromocytoma (often bilateral) and hyperparathyroidism. MATERIAL AND METHODS: 27 patients from 3 families affected by MEN 2A syndrome were examined clinically (by detecting the effects of catecholamine overproduction), biochemically (screening for metanephrine and normetanephrine in the serum), visualization (CT, MRI, MIBG, PET CT) and some of them also genetically (DNA fragment analysis obtained by PCR amplification)...
2018: Bratislavské Lekárske Listy
Morten Frost, Kate E Lines, Rajesh V Thakker
Pancreatic neuroendocrine tumours (PNETs) might occur as a non-familial isolated endocrinopathy or as part of a complex hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1). MEN1 is an autosomal dominant disorder characterized by the combined occurrence of PNETs with tumours of the parathyroids and anterior pituitary. Treatments for primary PNETs include surgery. Treatments for non-resectable PNETs and metastases include biotherapy (for example, somatostatin analogues, inhibitors of receptors and monoclonal antibodies), chemotherapy and radiological therapy...
February 16, 2018: Nature Reviews. Endocrinology
Alvin So, Owen Pointon, Richard Hodgson, John Burgess
CONTEXT: Bronchopulmonary neuroendocrine tumours (bpNETs) and thymic carcinoid (ThC) are features of Multiple Endocrine Neoplasia Type 1 (MEN 1) and surveillance guidelines recommend periodic thoracic imaging. The optimal thoracic imaging modality and screening frequency remains uncertain as does the prognosis of small lung nodules when identified. OBJECTIVES: To evaluate fluorodeoxyglucose positron emission tomography/computed tomography (18 F-FDG PET/CT) for identification and prognostic assessment of thoracic lesions in MEN 1...
February 15, 2018: Clinical Endocrinology
Balázs Sarkadi, Vince Kornél Grolmusz, Henriett Butz, Annamária Kövesdi, István Likó, Gábor Nyirő, Péter Igaz, Attila Patócs
The common features of hereditary endocrine tumour syndromes or multiple endocrine neoplasias (MEN) are the association of various tumours of different endocrine organs in one patient or within the same family. Different types can be distinguished from among which type 1 and type 2 are the most common. The mode of inheritance is autosomal dominant, meaning that there is a 50% chance to inherit the pathogenic alteration. The pathogenic variants of genes responsible for MEN syndromes have also been identified in sporadic endocrine tumours and many cases initially referred to as sporadic have been later categorized as familiar based on genetic analysis...
February 2018: Orvosi Hetilap
R Feldmann, S Wahl, A Steiner
Glucagonoma is an extremely rare tumor of the pancreatic alpha-cells. Its estimated annual incidence is 1 case per 20 million individuals. Necrolytic migratory erythema (NME) is the hallmark clinical sign. We report a patient with normoglycemic glucagonoma and NME. A 44-year-old male patient presented with a 4-year history of unexplained exanthema and unintentional weight loss. Skin examination revealed a mildly pruritic rash on the trunc, the extremities and the face (fig 1). One found erythematous polycyclic migratory lesions with scaling and crusting margins and central resolution...
February 8, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Minghao Li, Qianqian Liu, Peihua Liu, Xiaoping Yi, Xiao Guan, Anze Yu, Longfei Liu, Feizhou Zhu
Heterozygous germline mutation of the MEN1 tumor suppressor gene is responsible for multiple endocrine neoplasia type 1. Parathyroid and thoracic neuroendocrine tumor specimens and DNA from two Han Chinese MEN1 family patients were analyzed using whole exome and Sanger sequencing. The proband (II-3) was sequentially diagnosed with pituitary adenoma, pancreatic tumor, adrenal cortical tumor, abdominal lipoma, and parathyroid adenoma during the 6-year follow-up. The son of the proband (III-6) was also diagnosed with a thoracic neuroendocrine tumor and a parathyroid adenoma during this period...
January 5, 2018: Oncotarget
Y Weng, S N Xue, S L Zhang, H Cheng, L Yan
Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome. Here, two different RET proto-oncogen mutation were identified from family members of two MEN2A pedigrees by genetic screening. One RET mutations were found at codons 1893 and 1895 in exon 11 (1893-1895delCGA) from pedigree 1, which is a novel mutation, the other occurs at codon 634 (Cys634Arg) in exon 11 from pedigree 2. However, the clinical characteristics were similar in the patients of the two pedigrees. All the patients were in middle-age at onset...
February 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Yoshihiro Mori, Tatsuya Yamada, Kazuhisa Ehara, Shu Arai, Yumiko Kageyama, Yoshiyuki Kawashima, Satoshi Nomura, Yukinori Kamio, Daiji Oka, Takashi Fukuda, Hirohiko Sakamoto, Hanako Oba, Masafumi Kurosumi, Kiwamu Akagi
We herein report 2 cases of laparoscopic total gastrectomy(LTG)in patient with multiple gastric neuroendocrine tumor (NET)related to multiple endocrine neoplasia type 1(MEN1). Case 1: A 66-year-old female was diagnosed with multiple gastric NET. There was no finding of any other tumor, and parathyroid function was normal. She underwent LTG. Case 2: A 58-year-old female was diagnosed with multiple gastric NET. The patient had a previous history of surgery for pituitary gland tumor. There was no finding of any other tumor, and parathyroid function was normal...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Qiuli Liu, Dali Tong, Gaolei Liu, Yuting Yi, Dianzheng Zhang, Jun Zhang, Yao Zhang, Zaoming Huang, Yaoming Li, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang
RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera...
December 2017: Medicine (Baltimore)
Songchang Chen, Shuyuan Li, Junyu Zhang, Lanlan Zhang, Yiyao Chen, Li Wang, Li Jin, Yuting Hu, Xiaoping Qi, Hefeng Huang, Chenming Xu
BACKGROUND: The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive age to avoid the transmission of multiple endocrine neoplasia type 2 (MEN2). However, the high complexity and cost of PGD have hindered its widespread use. Thus, it is necessary to establish a simple and relatively inexpensive method to facilitate the PGD of MEN2...
March 1, 2018: Thyroid: Official Journal of the American Thyroid Association
Laura Beatrice, Felicitas Schär Boretti, Nadja S Sieber-Ruckstuhl, Claudia Mueller, Claudia Kümmerle-Fraune, Monika Hilbe, Paula Grest, Claudia E Reusch
Multiple endocrine neoplasia (MEN) is a well-known syndrome in human medicine, whereas only a few cases of concurrent endocrine neoplasias have been reported in dogs and cats. The aim of this study was to evaluate the prevalence of concurrent endocrine neoplasias in dogs and cats at our clinic, identify possible breed and sex predispositions and investigate similarities with MEN syndromes in humans. Postmortem reports of 951 dogs and 1155 cats that died or were euthanased at the Clinic for Small Animal Internal Medicine, University of Zurich, between 2004 and 2014 were reviewed, and animals with at least two concurrent endocrine neoplasias and/or hyperplasias were included...
January 19, 2018: Veterinary Record
Azita Monazzam, Joey Lau, Irina Velikyan, Su-Chen Li, Masoud Razmara, Ulrika Rosenström, Olof Eriksson, Britt Skogseid
Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by heterozygous mutations in the MEN1 tumor suppressor gene. The MEN1 pancreas of the adolescent gene carrier frequently contain diffusely spread pre-neoplasias and microadenomas, progressing to macroscopic and potentially malignant pancreatic neuroendocrine tumors (P-NET), which represents the major death cause in MEN1. The unveiling of the molecular mechanism of P-NET which is not currently understood fully to allow the optimization of diagnostics and treatment...
January 15, 2018: Scientific Reports
Thais Ligiero Braga, Ralph Santos-Oliveira
Generally, pancreatic polypeptide-secreting tumor of the distal pancreas (PPoma) is classified as a rare tumor, and may occur sporadically or be associated in families or with multiple endocrine neoplasia type 1 (NEM 1). It grows slowly, reaching large dimensions at the time of diagnosis and the symptomatology is fundamentally due to the mass effect, causing either non-specific abdominal pain or symptoms suggestive of obstruction of the pancreatic or biliary duct. Therefore, when detected, they are usually malignant, with metastases mainly in the liver...
January 11, 2018: Diseases (Basel)
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