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Multiple Endocrine Neoplasia

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https://www.readbyqxmd.com/read/29449689/current-and-emerging-therapies-for-pnets-in-patients-with-or-without-men1
#1
REVIEW
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
https://www.readbyqxmd.com/read/29446832/an-assessment-of-18-f-fdg-pet-ct-for-thoracic-screening-and-risk-stratification-of-pulmonary-nodules-in-multiple-endocrine-neoplasia-type-1
#2
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
https://www.readbyqxmd.com/read/29434861/bioinformatic-analysis-of-gene-expression-profiles-of-pituitary-gonadotroph-adenomas
#3
Ziming Hou, Jun Yang, Gang Wang, Changjiang Wang, Hongbing Zhang
The aim of the present study was to identify genes, microRNAs (miRNAs/miRs) or pathways associated with the development of pituitary gonadotroph adenomas. The array data of GSE23207, which included 16 samples of multiple endocrine neoplasia-associated rat pituitary homozygous mutations and 5 pituitary tissue samples from healthy rats, were downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were analyzed prior to functional enrichment analysis and protein-protein interaction (PPI) network construction...
February 2018: Oncology Letters
https://www.readbyqxmd.com/read/29429353/-evolution-of-molecular-genetic-methods-in-the-clinical-diagnosis-of-hereditary-endocrine-tumour-syndromes
#4
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
https://www.readbyqxmd.com/read/29420094/the-clinical-spectrum-of-multiple-endocrine-neoplasia-type-2a-with-cutaneous-lichen-amyloidosis-in-ethnic-han-chinese
#5
Xiao-Ping Qi, Jian-Qiang Zhao, Zhi-Lie Cao, Er Fu, Feng Li, Yi-Hua Zhao, Guang-Ping Wang, Peng-Fei Li, Wo-Long Ma, Jian Guo, Hong Jia
This study systematically reviewed previous literatures and analyzed the genotype-phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations. RET/OSMR/IL31RA screening was performed on 8 RET-carriers from 3 independent Chinese MEN 2A families. Besides, 51 MEN 2A-CLA patients in 116 RET carriers from literatures were clustered and analyzed. Our results indicated that almost all MEN 2A-CLA patients exhibited CLA which was located in the scapular region and carried RET mutation at codon 634...
February 8, 2018: Cancer Investigation
https://www.readbyqxmd.com/read/29419911/normoglycemic-glucagonoma-syndrome-associated-with-necrolytic-migratory-erythema
#6
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
https://www.readbyqxmd.com/read/29416715/long-term-follow-up-and-novel-splice-donor-mutation-in-men1-in-a-chinese-family
#7
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
https://www.readbyqxmd.com/read/29408534/probability-of-positive-genetic-testing-results-in-patients-with-family-history-of-primary-hyperparathyroidism
#8
Mustapha El Lakis, Pavel Nockel, Apostolos Gaitanidis, Bin Guan, Sunita Agarwal, James Welch, William F Simonds, Lee Weinstein, Stephen Marx, Naris Nilubol, Dhaval Patel, Roxanne Merkel, Amit Tirosh, Electron Kebebew
BACKGROUND: Approximately 10% of patients with primary hyperparathyroidism (PHPT) have hereditary disease. Hereditary PHPT may be syndromic (multiple endocrine neoplasia (MEN1, 2, 4), hyperparathyroidism-jaw tumor syndrome) or non-syndromic (familial isolated primary hyperparathyroidism). There are limited data on the probability of testing positive for genetic mutation based on clinical presentation. The aim of this study was to determine potential associations between clinical and biochemical features and mutation in susceptibility genes for PHPT in patients with a family history of PHPT...
February 2, 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29397600/-a-comparison-of-clinical-characteristics-between-2-pedigrees-of-multiple-endocrine-neoplasia-type-2a-with-different-ret-mutations
#9
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]
https://www.readbyqxmd.com/read/29396759/multiple-endocrine-neoplasia-2-in-cyprus-evidence-for-a-founder-effect
#10
P Fanis, N Skordis, S Frangos, G Christopoulos, E Spanou-Aristidou, E Andreou, P Manoli, M Mavrommatis, S Nicolaou, M Kleanthous, M A Cariolou, V Christophidou-Anastasiadou, G A Tanteles, L A Phylactou, V Neocleous
PURPOSE: Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017. METHODS AND PATIENTS: Forty patients underwent RET testing by Sanger sequencing of exons 10-11 and 13-16. Genotyping with STR genetic markers flanking the RET gene along with Y-chromosome genotyping and haplogroup assignment was also performed...
February 2, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29394980/endobronchial-mucosal-neuroma-with-sarcoidosis
#11
Ipek Erdem, Dildar Duman, Selma Eroglu, Meltem Agca, Aykut Erdagi, Hatice Turker, Armagan Hazar
A first case of endobronchial mucosal neuroma with sarcoidosis is hereby reported. A 67-year female patient, who was diagnosed as sarcoidosis previously, was admitted to our hospital with symptoms of dyspnea, chest pain and fatigue. Middle lobe atelectasis and endobronchial lesion were observed in thorax computed tomography (CT). Fiberoptic bronchoscopy revealed polypoid lesions and histopathological examination of biopsy material showed clustered nerve bundles consistent with mucosal neuroma and non-necrotising granulomas consistent with sarcoidosis...
February 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29394551/-laparoscopic-total-gastrectomy-ltg-in-patient-with-multiple-gastric-neuroendocrine-tumor-related-to-multiple-endocrine-neoplasia-type-1-two-case-reports
#12
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
https://www.readbyqxmd.com/read/29390296/carney-complex-with-prkar1a-gene-mutation-a-case-report-and-literature-review
#13
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)
https://www.readbyqxmd.com/read/29378779/geographic-epidemiology-of-mtc-families-unearthing-european-ancestral-heritage
#14
Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
There is evidence in the literature that some RET (REarranged during Transfection) variants commonly associated with multiple endocrine neoplasia type 2A (MEN2A) may be more frequent in certain European countries: p.L790F in Germany; p.Y791F in Poland; and p.V804 in France and Italy. This investigation of 189 German medullary thyroid cancer families was undertaken to explore the geographic epidemiology of these three RET variants, based on place of residence of the last common ancestor grouped by Roman and Slavic historic settlement areas...
January 29, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29378479/preimplantation-genetic-diagnosis-of-multiple-endocrine-neoplasia-type-2a-using-informative-markers-identified-by-targeted-sequencing
#15
Songchang Chen, Shuyuan Li, Junyu Zhang, Lanlan Zhang, Yiyao Chen, Li Wang, Li Jin, Yuting Hu, Xiao-Ping 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...
January 29, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29365025/incidence-and-prognosis-of-primary-gastrinomas-in-the-hepatobiliary-tract
#16
Jeffrey A Norton, Deshka S Foster, Leslie H Blumgart, George A Poultsides, Brendan C Visser, Douglas L Fraker, H Richard Alexander, Robert T Jensen
Importance: Zollinger-Ellison syndrome (ZES) is a life-threatening disease caused by a malignant tumor that secretes gastrin (gastrinoma). Gastrinomas typically occur in the pancreas or the duodenum. Objective: To describe the incidence and prognosis of very unusual gastrinomas originating in the hepatobiliary tract. Design, Setting, and Participants: This study included 223 consecutive patients at the National Institutes of Health and Stanford University Hospital who were enrolled in a prospective protocol to treat ZES using proton pump inhibitors to control acid hypersecretion and surgical resection to ameliorate the tumoral process...
January 24, 2018: JAMA Surgery
https://www.readbyqxmd.com/read/29362346/-a-case-of-rectal-cancer-with-multiple-endocrine-neoplasia-type-2
#17
Ryota Mori, Kohei Murata, Yoshinori Kagawa, Yohei Nose, Kenji Kawai, Takuya Sakamoto, Atsushi Naito, Kohei Murakami, Yoshiteru Katsura, Yoshiaki Ohmura, Toru Masuzawa, Atsushi Takeno, Yutaka Takeda
A 63-year-old man with multiple endocrine neoplasia type 2(MEN2)was admitted to the hospital because of positive fecal occult blood tests. Colonoscopy revealed a 50mm type 2 tumor at the rectum, which was diagnosed as an adenocarcinoma based on histology. Since there was no apparent distant metastasis, laparoscopy-assisted low anterior resection with regional lymph node dissection was performed. The final diagnosis was pT3, pN0, pM0, pStage II . Almost all patients with MEN2 have RET mutations, and they are resistant to EGFR inhibitors...
January 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29351945/concurrent-endocrine-neoplasias-in-dogs-and-cats-a-retrospective-study-2004-2014
#18
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
https://www.readbyqxmd.com/read/29348307/non-mammalian-models-of-multiple-endocrine-neoplasia-type-2
#19
REVIEW
Tirtha K Das, Ross L Cagan
Twenty-five years ago, RET was identified as the primary driver of multiple endocrine neoplasia type 2 (MEN2) syndrome. MEN2 is characterized by several transformation events including pheochromocytoma, parathyroid adenoma and, especially penetrant, medullary thyroid carcinoma (MTC). Overall, MTC is a rare but aggressive type of thyroid cancer for which no effective treatment currently exists. Surgery, radiation, radioisotope treatment and chemotherapeutics have all shown limited success, and none of these approaches have proven durable in advanced disease...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29348306/novel-targeted-therapeutics-for-men2
#20
REVIEW
Sara Redaelli, Ivan Plaza-Menacho, Luca Mologni
The rearranged during transfection (RET) proto-oncogene was recognized as the multiple endocrine neoplasia type 2 (MEN2) causing gene in 1993. Since then, much effort has been put into a clear understanding of its oncogenic signaling, its biochemical function and ways to block its aberrant activation in MEN2 and related cancers. Several small molecules have been designed, developed or redirected as RET inhibitors for the treatment of MEN2 and sporadic MTC. However, current drugs are mostly active against several other kinases, as they were not originally developed for RET...
February 2018: Endocrine-related Cancer
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