Database : MEDLINE
Search on : Multiple and Endocrine and Neoplasia and Type and 1 [Words]
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[PMID]: 29449689
[Au] Autor:Frost M; Lines KE; Thakker RV
[Ad] Address:Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.
[Ti] Title:Current and emerging therapies for PNETs in patients with or without MEN1.
[So] Source:Nat Rev Endocrinol;14(4):216-227, 2018 Apr.
[Is] ISSN:1759-5037
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. All these treatments are effective for PNETs in patients without MEN1; however, there is a scarcity of clinical trials reporting the efficacy of the same treatments of PNETs in patients with MEN1. Treatment of PNETs in patients with MEN1 is challenging owing to the concomitant development of other tumours, which might have metastasized. In recent years, preclinical studies have identified potential new therapeutic targets for treating MEN1-associated neuroendocrine tumours (including PNETs), and these include epigenetic modification, the ß-catenin-wingless (WNT) pathway, Hedgehog signalling, somatostatin receptors and MEN1 gene replacement therapy. This Review discusses these advances.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1038/nrendo.2018.3

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[PMID]: 29517561
[Au] Autor:Norton JA; Krampitz GW; Poultsides GA; Visser BC; Fraker DL; Alexander HR; Jensen RT
[Ad] Address:Department of Surgery, Stanford University School of Medicine, Stanford, CA.
[Ti] Title:Prospective Evaluation of Results of Reoperation in Zollinger-Ellison Syndrome.
[So] Source:Ann Surg;267(4):782-788, 2018 Apr.
[Is] ISSN:1528-1140
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. The mean age at first surgery was 49 years and with an 11-year mean follow-up 52 patients (23%) underwent reoperation when ZES recurred with imageable disease. Results in this group are analyzed in the current report. Reoperation occurred on a mean of 6 years after the initial surgery with a mean number of reoperations of 1 (range 1-5). After reoperation 18/52 patients were initially DF (35%); and after a mean follow-up of 8 years, 13/52 remained DF (25%). During follow-up, 9/52 reoperated patients (17%) died, of whom 7 patients died a disease-related death (13%). The overall survival from first surgery was 84% at 20 years and 68% at 30 years. Multiple endocrine neoplasia type 1 status did not affect survival, but DF interval and liver metastases did. CONCLUSIONS: These results demonstrate that a significant proportion of patients with ZES will develop resectable persistent or recurrent disease after an initial operation. These patients generally have prolonged survival after reoperation and 25% can be cured with repeat surgery, suggesting all ZES patients postresection should have systematic imaging, and if tumor recurs, advise repeat operation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1097/SLA.0000000000002122

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[PMID]: 29266898
[Au] Autor:Lima AD; Alves VR; Rocha AR; Martinhago AC; Martinhago C; Donadio N; Dzik A; Cavagna M; Gebrim LH
[Ad] Address:Perola Byington Hospital - Women's Health Reference Center.
[Ti] Title:Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.
[So] Source:JBRA Assist Reprod;22(1):67-70, 2018 Mar 01.
[Is] ISSN:1518-0557
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive ßHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.5935/1518-0557.20180010

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[PMID]: 29028222
[Au] Autor:Choi HJ; Joo HS; Won HY; Min KW; Kim HY; Son T; Oh YH; Lee JY; Kong G
[Ad] Address:Department of Pathology, College of Medicine, Hanyang University, Seoul, Republic of Korea; Research Institute of Pharmaceutical Sciences, College of Pharmacy, Seoul National University, Seoul, Republic of Korea; Institute for Bioengineering and Biopharmaceutical Research (IBBR), Hanyang University,
[Ti] Title:Role of RBP2-Induced ER and IGF1R-ErbB Signaling in Tamoxifen Resistance in Breast Cancer.
[So] Source:J Natl Cancer Inst;110(4), 2018 Apr 01.
[Is] ISSN:1460-2105
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: Despite the benefit of endocrine therapy, acquired resistance during or after treatment still remains a major challenge in estrogen receptor (ER)-positive breast cancer. We investigated the potential role of histone demethylase retinoblastoma-binding protein 2 (RBP2) in endocrine therapy resistance of breast cancer. Methods: Survival of breast cancer patients according to RBP2 expression was analyzed in three different breast cancer cohorts including METABRIC (n = 1980) and KM plotter (n = 1764). RBP2-mediated tamoxifen resistance was confirmed by invitro sulforhodamine B (SRB) colorimetric, colony-forming assays, and invivo xenograft models (n = 8 per group). RNA-seq analysis and receptor tyrosine kinase assay were performed to identify the tamoxifen resistance mechanism by RBP2. All statistical tests were two-sided. Results: RBP2 was associated with poor prognosis to tamoxifen therapy in ER-positive breast cancer (P = .04 in HYU cohort, P = .02 in KM plotter, P = .007 in METABRIC, log-rank test). Furthermore, RBP2 expression was elevated in patients with tamoxifen-resistant breast cancer (P = .04, chi-square test). Knockdown of RBP2 conferred tamoxifen sensitivity, whereas overexpression of RBP2 induced tamoxifen resistance invitro and invivo (MCF7 xenograft: tamoxifen-treated control, mean [SD] tumor volume = 70.8 [27.9] mm3, vs tamoxifen-treated RBP2, mean [SD] tumor volume = 387.9 [85.1] mm3, P < .001). Mechanistically, RBP2 cooperated with ER co-activators and corepressors and regulated several tamoxifen resistance-associated genes, including NRIP1, CCND1, and IGFBP4 and IGFBP5. Furthermore, epigenetic silencing of IGFBP4/5 by RBP2-ER-NRIP1-HDAC1 complex led to insulin-like growth factor-1 receptor (IGF1R) activation. RBP2 also increased IGF1R-ErbB crosstalk and subsequent PI3K-AKT activation via demethylase activity-independent ErbB protein stabilization. Combinational treatment with tamoxifen and PI3K inhibitor could overcome RBP2-mediated tamoxifen resistance (RBP2-overexpressing cells: % cell viability [SD], tamoxifen = 89.0 [3.8]%, vs tamoxifen with BKM120 = 41.3 [5.6]%, P < .001). Conclusions: RBP2 activates ER-IGF1R-ErbB signaling cascade in multiple ways to induce tamoxifen resistance, suggesting that RBP2 is a potential therapeutic target for ER-driven cancer.
[Mh] MeSH terms primary: Breast Neoplasms/metabolism
Carcinoma, Ductal, Breast/metabolism
Drug Resistance, Neoplasm
Neoplasm Proteins/physiology
Receptors, Estrogen/metabolism
Retinoblastoma-Binding Protein 2/physiology
[Mh] MeSH terms secundary: Adaptor Proteins, Signal Transducing/metabolism
Analysis of Variance
Animals
Antineoplastic Agents, Hormonal/therapeutic use
Breast Neoplasms/chemistry
Breast Neoplasms/drug therapy
Breast Neoplasms/pathology
Carcinoma, Ductal, Breast/chemistry
Carcinoma, Ductal, Breast/drug therapy
Carcinoma, Ductal, Breast/pathology
Carrier Proteins/metabolism
Cohort Studies
Colorimetry
Disease-Free Survival
Drug Resistance, Neoplasm/genetics
Female
Heterografts
Humans
Kaplan-Meier Estimate
MCF-7 Cells
Mice
Mice, Inbred NOD
Mice, SCID
Neoplasm Proteins/metabolism
Neoplastic Stem Cells
Nuclear Proteins/metabolism
Phosphatidylinositol 3-Kinases/antagonists & inhibitors
Phosphatidylinositol 3-Kinases/metabolism
Receptor, ErbB-2/metabolism
Receptor, IGF Type 1/metabolism
Retinoblastoma-Binding Protein 2/metabolism
Tamoxifen/therapeutic use
Tumor Burden
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Adaptor Proteins, Signal Transducing); 0 (Antineoplastic Agents, Hormonal); 0 (Carrier Proteins); 0 (IGFBP5-interacting protein, human); 0 (Neoplasm Proteins); 0 (Nuclear Proteins); 0 (Receptors, Estrogen); 0 (nuclear receptor interacting protein 1); 094ZI81Y45 (Tamoxifen); EC 1.14.11.27 (Retinoblastoma-Binding Protein 2); EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.10.1 (Receptor, ErbB-2); EC 2.7.10.1 (Receptor, IGF Type 1)
[Em] Entry month:1710
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:171014
[St] Status:MEDLINE
[do] DOI:10.1093/jnci/djx207

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[PMID]: 29446832
[Au] Autor:So A; Pointon O; Hodgson R; Burgess J
[Ad] Address:Department of Medical Imaging, Royal Hobart Hospital, Hobart, TAS, Australia.
[Ti] Title:An assessment of F-FDG PET/CT for thoracic screening and risk stratification of pulmonary nodules in multiple endocrine neoplasia type 1.
[So] Source:Clin Endocrinol (Oxf);, 2018 Feb 15.
[Is] ISSN:1365-2265
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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 remain uncertain as does the prognosis of small lung nodules when identified. OBJECTIVES: To evaluate fluorodeoxyglucose positron emission tomography/computed tomography ( F-FDG PET/CT) for identification and prognostic assessment of thoracic lesions in MEN 1. DESIGN: Retrospective observational study. SETTING AND PARTICIPANTS: Fifty consecutive MEN 1 patients undergoing screening with F-FDG PET/CT at a tertiary referral hospital between July 2011 and December 2016. INTERVENTIONS: F-FDG PET/CT. OUTCOME MEASURES: Pulmonary and thymic lesion prevalence, size, functional characteristics and behaviour. RESULTS: Thirteen patients (26.0%) exhibited pulmonary nodules with multiple nodules identified in nine (18.0%). An asymptomatic 31 mm FDG-avid ThC was identified in one patient (2%). Of the 13 patients with pulmonary nodules, four (8.0%) exhibited 13 FDG-avid nodules (mean size 10.1 ± 9.1 mm), and nine (18.0%) demonstrated 26 FDG nonavid nodules (mean size 6.9 ± 5.8 mm). All FDG-avid lesions increased in size vs 11 (42.3%) FDG nonavid lesions (P = .0004). For FDG-avid and nonavid nodules, the median doubling time was 24.2 months (IQR 11.4-40.7) and 48.6 months (IQR 37.0-72.2), respectively. Nodule resection was undertaken in two patients, typical bronchial carcinoid diagnosed in one (FDG nonavid) and metastatic renal cell carcinoma in the second (FDG avid). CONCLUSION: Thoracic imaging with F-FDG PET/CT effectively identifies pulmonary nodules and ThC. FDG-avid pulmonary lesions are significantly more likely to progress than nonavid lesions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1111/cen.13573

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[PMID]: 29397600
[Au] Autor:Weng Y; Xue SN; Zhang SL; Cheng H; Yan L
[Ad] Address:Department of Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China.
[Ti] Title:[A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations].
[So] Source:Zhonghua Nei Ke Za Zhi;57(2):134-137, 2018 Feb 01.
[Is] ISSN:0578-1426
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract: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. Most of them were firstly diagnosed with bilateral adrenal pheochromocytoma with different degrees of thyroid abnormalities (elevated serum calcitonin with or without thyroid mass, or had been diagnosed with medullary thyroid carcinoma). Some family members were with elevated serum parathyroid hormone but with no other evidences for hyperparathyroidism.
[Mh] MeSH terms primary: Adrenal Gland Neoplasms/diagnosis
Multiple Endocrine Neoplasia Type 2a/genetics
Mutation
Pheochromocytoma/diagnosis
Proto-Oncogene Proteins c-ret/genetics
[Mh] MeSH terms secundary: Adrenal Gland Neoplasms/genetics
Carcinoma, Neuroendocrine/diagnosis
Carcinoma, Neuroendocrine/genetics
Exons
Humans
Middle Aged
Multiple Endocrine Neoplasia Type 2a/pathology
Pedigree
Pheochromocytoma/genetics
Point Mutation
Thyroid Neoplasms/diagnosis
Thyroid Neoplasms/genetics
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Name of substance:EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[Js] Journal subset:IM
[Da] Date of entry for processing:180206
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1426.2018.02.010

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[PMID]: 29498920
[Au] Autor:Lim CT; Korbonits M
[Ad] Address:From: Department of Endocrinology, St. William Harvey Research Institute, Barts and the London, School of Medicine, Queen Mary University of London.
[Ti] Title:UPDATE ON THE CLINICOPATHOLOGY OF PITUITARY ADENOMAS.
[So] Source:Endocr Pract;, 2018 Mar 02.
[Is] ISSN:1530-891X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Most of the pituitary tumours occur sporadically without known genetic predisposition, but in a significant minority somatic mutations can be identified in the GNAS and USP8 genes. A small proportion of the cases have germline genetic defects or embryonic mutations leading to mosaicism. Genes with germline mutations predisposing to pituitary adenomas include AIP, GPR101, MEN1, CDKN1B, PRKAR1A, PRKAR2A, DICER1, NF1, and SDHx, while more recently CABLES1 has also been implicated. Understanding the pathogenesis of pituitary adenomas will allow clinicians to correlate the pathological and genetic features with clinical data helping decision on the best management of these tumours. Abbreviations; α-GSU = glycoprotein hormone alpha-subunit; ACTH = adrenocorticotrophic hormone; AD = autosomal dominant; AIP = aryl hydrocarbon receptor-interacting protein; CRH = corticotrophin releasing hormone; D2R = dopamine receptor 2; FIPA = familial isolated pituitary adenoma; FSH = follicle-stimulating hormone; GH = growth hormone; GHRH = growth hormone-releasing hormone; LH = luteinizing hormone; MEN1 = multiple endocrine neoplasia 1; MRI = magnetic resonance imaging; NET = neuroendocrine tumour; NFPA = non-functioning pituitary adenoma; PC = phaeochromocytoma; PGL = paraganglioma; PI3K = phosphoinositide 3-kinase; PRL = prolactin; SDH = succinate dehydrogenase; SPA = silent pituitary adenoma; SSA = somatostatin analogue; SSTR = somatostatin receptor type; TRH = thyrotrophin-releasing hormone; TSG = tumour suppressor gene; TSH = thyroid-stimulating hormone; TTF-1 = thyroid transcription factor-1; USP8 = ubiquitin specific peptidase 8; WHO = World Health Organisation; XLAG = X-linked acrogigantism.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.4158/EP-2018-0034

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[PMID]: 29497973
[Au] Autor:Marini F; Giusti F; Fossi C; Cioppi F; Cianferotti L; Masi L; Boaretto F; Zovato S; Cetani F; Colao A; Davì MV; Faggiano A; Fanciulli G; Ferolla P; Ferone D; Loli P; Mantero F; Marcocci C; Opocher G; Beck-Peccoz P; Persani L; Scillitani A; Guizzardi F; Spada A; Tomassetti P; Tonelli F; Brandi ML
[Ad] Address:Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
[Ti] Title:Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
[So] Source:Endocrine;, 2018 Mar 01.
[Is] ISSN:1559-0100
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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]. RESULTS: We identified 99 different mutations: 41 frameshift [small intra-exon deletions (28) or insertions (13)], 13 nonsense, 26 missense and 11 splicing site mutations, 4 in-frame small deletions, and 4 intragenic large deletions spanning more than one exon. One family had two different inactivating MEN1 mutations on the same allele. Gastro-entero-pancreatic tumors resulted more frequent in patients with a nonsense mutation, and thoracic neuroendocrine tumors in individuals bearing a splicing-site mutation. CONCLUSIONS: Our data regarding mutation type frequency and distribution are in accordance with previously published data: MEN1 mutations are scattered through the entire coding region, and truncating mutations are the most common in MEN1 syndrome. A specific direct correlation between MEN1 genotype and clinical phenotype was not found in all our families, and wide intra-familial clinical variability and variable disease penetrance were both confirmed, suggesting a role for modifying, still undetermined, factors, explaining the variable MEN1 tumorigenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s12020-018-1566-8

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[PMID]: 29390296
[Au] Autor:Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J
[Ad] Address:Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing.
[Ti] Title:Carney complex with PRKAR1A gene mutation: A case report and literature review.
[So] Source:Medicine (Baltimore);96(50):e8999, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. DIAGNOSES: The patient was diagnosed as Carney complex. INTERVENTIONS: the patient underwent right adrenalectomy and partial adrenalectomy of the left adrenal gland. OUTCOME: Results of imaging showed bilateral adrenal nodular hyperplasia, multiple microcalcifications of the bilateral testes, and compression fracture of the thoracolumbar spine. Histopathological results confirmed multiple pigmented nodules in the adrenal glands. DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). After the second adrenalectomy, the Cushingoid features disappeared, and cortisol levels returned to normal. LESSONS: Carney complex is a rare disease that lacks consistent genotype-phenotype correlations. Our patient, who carried a germline PRKAR1A nonsense mutation (c.205C > T), clinical features included spotty skin pigmentation, osteoporosis, and primary pigmented nodular adrenal disease. Adrenalectomy is the preferred treatment for Cushing syndrome due to primary pigmented nodular adrenal disease.
[Mh] MeSH terms primary: Carney Complex/genetics
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics
Mutation/genetics
[Mh] MeSH terms secundary: Adolescent
Adrenalectomy
Carney Complex/diagnosis
Carney Complex/surgery
Diagnosis, Differential
Humans
Male
Polymerase Chain Reaction
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008999

  10 / 3435 MEDLINE  
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[PMID]: 29378479
[Au] Autor:Chen S; Li S; Zhang J; Zhang L; Chen Y; Wang L; Jin L; Hu Y; Qi X; Huang H; Xu C
[Ad] Address:1 Institute of Embryo-Fetal Original Adult Disease, School of Medicine, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
[Ti] Title:Preimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing.
[So] Source:Thyroid;, 2018 Mar 01.
[Is] ISSN:1557-9077
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. PATIENTS AND METHODS: A customized Nimblegen EZ sequence capture array was designed to capture the targeted regions, including the RET gene, and 1 Mb range on each side of the RET gene. Targeted, capture-based next-generation sequencing of three members of one family with MEN2A (the couple and the paternal father) was conducted to identify the informative markers. The diagnosis of the embryos was achieved through haplotype analysis based on informative markers and causative mutation. RESULTS: Based on the sequencing results, 173 informative markers were detected, which were sufficient for the subsequent use for PGD. Seven informative markers and the causative mutation (RET ) were selected and subjected to Sanger sequencing. Through haplotype analysis, four embryos without inheritance of the mutation haplotype of the RET gene were diagnosed as unaffected. One unaffected embryo was transferred, with one healthy baby born at 38 gestational weeks. CONCLUSIONS: Targeted, capture-based next-generation sequencing for identification of informative markers together with Sanger sequencing is an easy and efficient method for the PGD of monogenic diseases such as MEN2.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1089/thy.2017.0200


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