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Multiple Endocrine Neoplasia

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https://www.readbyqxmd.com/read/28610401/oncogenesis-of-thyroid-cancer
#1
Enas Younis
Thyroid neoplasms encompass a variety of lesions that range from benign adenomas to malignancies. These latter can be well-differentiated, poorly differentiated or undifferentiated (anaplastic) carcinomas. More than 95% of thyroid cancers are derived from thyroid follicular cells, while 2-3% (medullary thyroid cancers, MTC) originate from calcitonin producing C-cells. Over the last decade, investigators have developed a clearer understanding of genetic alterations underlying thyroid carcinogenesis. A number of point mutations and translocations are involved, not only in its tumorigenesis, but also as have potential use as diagnostic and prognostic indicators and therapeutic targets...
May 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28605116/phaeochromocytoma-in-multiple-endocrine-neoplasia-type-2-ret-codon-specific-penetrance-and-changes-in-management-during-the-last-four-decades
#2
L Mucha, G Leidig-Bruckner, K Frank-Raue, Th Bruckner, M Kroiss, F Raue
OBJECTIVES: We describe phaeochromocytoma penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations, and report changes in phaeochromocytoma diagnosis and management from 1968 to 2015. DESIGN: This retrospective chart review included 309 MEN2 patients from one specialised ambulatory care centre. Phaeochromocytoma patients were categorised by diagnosis date: early, 1968-1996, n = 40; and recent, 1997-2015, n = 45. RESULTS: Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46·6%); exon 16 (7/17, 41·2%), exon 10 (14/47, 29·8%), and exon 13-15 (2/116, 1·7%)...
June 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28597079/men1-mutations-and-potentially-men1-targeting-mirnas-are-responsible-for-menin-deficiency-in-sporadic-and-men1-syndrome-associated-primary-hyperparathyroidism
#3
Vince Kornél Grolmusz, Katalin Borka, Annamária Kövesdi, Kinga Németh, Katalin Balogh, Csaba Dékány, András Kiss, Anna Szentpéteri, Beatrix Sármán, Anikó Somogyi, Éva Csajbók, Zsuzsanna Valkusz, Miklós Tóth, Péter Igaz, Károly Rácz, Attila Patócs
Inherited, germline mutations of menin-coding MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), while somatic MEN1 mutations are the sole main driver mutations in sporadic primary hyperparathyroidism (PHPT), suggesting that menin deficiency has a central role in the pathogenesis of PHPT. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expression. Our aim was to investigate both the role of MEN1 mutations and potentially MEN1-targeting miRNAs as the underlying cause of menin deficiency in MEN1-associated and sporadic PHPT tissues...
June 8, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28589571/laparoscopic-total-pancreatectomy-for-multiple-endocrine-neoplasia-type-1-syndrome-associated-multifocal-non-functioning-pancreatic-neuroendocrine-tumor-a-case-report
#4
Palanisamy Senthinathan, Samrat Vijaykumar Jankar, Sandeep C Sabnis, Vivek Kaje, Sivakumar Srivatsan Gurumurthy, Natesan Anand Vijai, Vaiyapurigounder Palanisamy Nalankilli, Palanivelu Praveen Raj, Ramakrishanan Parthasarathi, Subbiah Rajapandian, Chinnusamy Palanivelu
Pancreatic neuroendocrine tumors are rare, accounting for less than 3% of all pancreatic tumors. Although laparoscopic pancreas-preserving surgery for managing sporadic pancreatic neuroendocrine tumors has been described in the literature, laparoscopic total pancreatectomy has rarely been reported. We present a 30-year-old man who was incidentally diagnosed with multiple endocrine neoplasia type 1 syndrome with parathyroid hyperplasia and a non-functioning pancreatic neuroendocrine tumor. He underwent laparoscopic total pancreatectomy with splenectomy...
June 6, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28578594/novel-somatic-ret-mutation-questioning-the-causality-of-the-ret-i852m-germline-sequence-variant-in-multiple-endocrine-neoplasia-2a
#5
Jes Sloth Mathiesen, Thomas V O Hansen, Åse Krogh Rasmussen, Tina Duelund Hjortshøj, Katalin Kiss, Stine Rosenkilde Larsen, Lotte Nylandsted Krogh, Anja Lisbeth Frederiksen, Anne Pernille Hermann, Christian Godballe
"Letter to the Editor" format requires no Abstract.
June 3, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28569245/genetic-diagnosis-of-a-chinese-multiple-endocrine-neoplasia-type-2a-family-through-whole-genome-sequencing
#6
Zhen-Fang DU, Peng-Fei Li, Jian-Qiang Zhao, Zhi-Lie Cao, Feng Li, Ju-Ming Ma, Xiao-Ping Qi
Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RET mutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can be preventative or curative and has become standard management. The general strategy for RET screening on family members at risk is to sequence the most commonly affected exons and, if negative, to extend sequencing to additional exons. However, different families with MEN 2A due to the same RET mutation often have significant variability in the clinical exhibition of disease and aggressiveness of the MTC, which implies additional genetic loci exsit beyond RET coding region...
June 2017: Journal of Biosciences
https://www.readbyqxmd.com/read/28567607/pancreatic-neuroendocrine-tumors-in-men1-disease-a-mono-centric-longitudinal-and-prognostic-study
#7
S Chiloiro, F Lanza, A Bianchi, G Schinzari, M G Brizi, A Giampietro, V Rufini, F Inzani, A Giordano, G Rindi, A Pontecorvi, L De Marinis
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is an inherited endocrine neoplastic syndrome associated with a greater risk of endocrine tumor development like pancreatic neuroendocrine tumors (p-NET), with different clinical characteristics from sporadic ones. This paper aims to compare clinical, hystological and morphological aspects of p-NET in patients affected from MEN1 (MEN1+) and not-affected ones (MEN1-). METHODS: We performed a retrospective observational study...
May 31, 2017: Endocrine
https://www.readbyqxmd.com/read/28566601/challenging-differential-diagnosis-of-hypergastremia-and-hyperglucagonemia-with-chronic-renal-failure-report-of-a-case-with-multiple-endocrine-neoplasia-type-1
#8
Takaaki Murakami, Takeshi Usui, Yuji Nakamoto, Akio Nakajima, Yuki Mochida, Sumio Saito, Takahiro Shibayama, Nobuhisa Yamazaki, Tomonobu Hatoko, Tomoko Kato, Shin Yonemitsu, Seiji Muro, Shogo Oki
A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective arterial calcium injection (SACI) testing revealed hyperglucagonemia and hypergastrinemia with positive gastrin responses. A pathological examination revealed glucagonoma and a lymph node gastrinoma...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28562256/sporadic-insulinoma-presenting-as-early-morning-night-terrors
#9
Daniel Beisang, Gregory P Forlenza, Mark Luquette, Kyriakie Sarafoglou
A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed...
May 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28553188/incidental-detection-of-synchronous-medullary-thyroid-carcinoma-with-bilateral-adrenal-pheochromocytoma-on-iodine-123-metaiodobenzylguanidine-scintigraphy-leading-to-diagnosis-of-multiple-endocrine-neoplasia-2a
#10
Asif Ali Fakhri, Paul David Rodrigue, Mustafa Aladin, Aun Hussain
We report a case of a 29-year-old female with the family history of medullary thyroid carcinoma (MTC) presenting with hematuria and tachycardia, who was found to have bilateral adrenal masses on abdominal computed tomography and biochemical testing compatible with pheochromocytoma. Iodine-123 (I-123) metaiodobenzylguanidine (MIBG) scintigraphy for preoperative planning prior to planned adrenalectomy revealed incidental synchronous unifocal MTC, along with expected bilateral adrenal pheochromocytomas. Pathology confirmed these findings, and subsequent genetic testing confirmed a rearranged during transfection proto-oncogene mutation on exon 11, confirming the clinical diagnosis of multiple endocrine neoplasia 2A (MEN 2A)...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28553179/peptide-receptor-radionuclide-therapy-with-177-lu-dotatate-for-metastatic-neuroendocrine-tumor-occurring-in-association-with-multiple-endocrine-neoplasia-type-1-and-cushing-s-syndrome
#11
Chinna Naik, Sandip Basu
Neuroendocrine tumor (NET) occurring in association with other endocrine syndromes forms a distinct entity. The aim was to assess the therapy response profile of the routine peptide receptor radionuclide therapy (PRRT) in this relatively uncommon but clinically challenging subgroup of patients. A retrospective analysis was undertaken from the case records from those who were treated with (177)Lu-DOTATATE for metastatic NET. In addition to assessing the therapeutic efficacy, emphasis was also given to study lesional sites and scan pattern...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28506408/genetics-of-medullary-thyroid-cancer-an-overview
#12
REVIEW
Giacomo Accardo, Giovanni Conzo, Daniela Esposito, Claudio Gambardella, Marco Mazzella, Filomena Castaldo, Carlo Di Donna, Andrea Polistena, Nicola Avenia, Vittorio Colantuoni, Dario Giugliano, Daniela Pasquali
Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. Mutations of the RET proto-oncogene are implicated in the pathogenesis of MTC, but there are many other mutational patterns involved...
May 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28504695/epigenetic-pathway-inhibitors-represent-potential-drugs-for-treating-pancreatic-and-bronchial-neuroendocrine-tumors
#13
K E Lines, M Stevenson, P Filippakopoulos, S Müller, H E Lockstone, B Wright, S Grozinsky-Glasberg, A B Grossman, S Knapp, D Buck, C Bountra, R V Thakker
Cancer is associated with alterations in epigenetic mechanisms such as histone modifications and methylation of DNA, and inhibitors targeting epigenetic mechanisms represent a novel class of anti-cancer drugs. Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs), which may have 5-year survivals of <50% and as low as 5%, respectively, represent targets for such drugs, as >40% of PNETs and ~35% of BNETs have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacting with histone methyltransferases...
May 15, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28503312/germline-and-somatic-genetic-changes-in-multicentric-tumors-obtained-from-a-patient-with-multiple-endocrine-neoplasia-type-1
#14
Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima, Shumpei Ohnami, Kenichi Urakami, Yasue Horiuchi, Yoshimi Kiyozumi, Masato Abe, Takashi Nakajima, Teiichi Sugiura, Katsuhiko Uesaka, Masatoshi Kusuhara, Ken Yamaguchi
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28501573/alterations-of-dna-methylation-in-parathyroid-tumors
#15
REVIEW
Vito Guarnieri, Lucia Anna Muscarella, Chiara Verdelli, Sabrina Corbetta
Parathyroid tumors are common endocrine neoplasias associated with primary hyperparathyroidism, a metabolic disorder characterized by parathormone hypersecretion. Parathyroid neoplasia are frequently benign adenomas or multiple glands hyperplasia, while malignancies are rare. The epigenetic scenario in parathyroid tumors has just begun to be decoded: DNA methylation, histones and chromatin modifiers expression have been investigated so far. The main findings suggest that DNA methylation and chromatin remodeling are active and deregulated in parathyroid tumors, cooperating with genetic alterations to drive the tumor phenotype: the tumor suppressors menin and parafibromin, involved in parathyroid tumorigenesis, interact with chromatin modifiers, defining distinct epigenetic derangements...
May 10, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28485270/a-review-of-the-scaffold-protein-menin-and-its-role-in-hepatobiliary-pathology
#16
Laurent Ehrlich, Chad Hall, Fanyin Meng, Terry Lairmore, Gianfranco Alpini, Shannon Glaser
Multiple endocrine neoplasia type I (MEN1) is a familial cancer syndrome with neuroendocrine tumorigenesis of the parathyroid glands, pituitary gland, and pancreatic islet cells. The MEN1 gene codes for the canonical tumor suppressor protein, menin. Its protein structure has recently been crystallized, and it has been investigated in a multitude of other tissues. In this review, we summarize recent advancements in understanding the structure of the menin protein and its function as a scaffold protein in histone modification and epigenetic gene regulation...
April 28, 2017: Gene Expression
https://www.readbyqxmd.com/read/28481789/comparison-of-the-68ga-dotatata-pet-ct-fdg-pet-ct-and-mibg-spect-ct-in-the-evaluation-of-suspected-primary-pheochromocytomas-and-paragangliomas
#17
Hongli Jing, Fang Li, Ling Wang, Zhenghua Wang, Wei Li, Li Huo, Jingjing Zhang
Anatomical imaging modalities including CT and MRI are the mainstay of evaluation of primary pheochromocytoma or paraganglioma. However, nuclear medicine imaging is frequently necessary to determine the nature of the lesions. The purpose of this investigation is to assess which commonly used nuclear medicine modality might have a better diagnostic value in this clinical setting. METHODS: Eight patients who had been suspected of having either primary pheochromocytoma or primary paraganglioma and 1 patient with known pheochromocytoma were included in the analysis...
July 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28476233/genetics-of-multiple-endocrine-neoplasia-type-1-multiple-endocrine-neoplasia-type-2-syndromes
#18
REVIEW
Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs
Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471129/management-of-a-multiple-endocrine-neoplasia-type-1-during-pregnancy-a-case-report-and-review-of-the-literature
#19
REVIEW
Halil Korkut Daglar, Ayse Kirbas, Ebru Biberoglu, Bergen Laleli, Nuri Danisman
Multiple Endocrine Neoplasia Type 1 (MEN1) or Wermer's syndrome is a rare hereditary endocrine syndrome with high penetrance caused by mutations in MEN1 tumor suppressor gene. MEN1 is characterized by hyperplasia or tumoral enlargement in a number of endocrine organs (parathyroid glands, pancreas, pituitary gland, adrenal gland) and it could be hormonally active or inactive. MEN1 is a significant cause of morbidity due to hormone secretion and mass effect. Since it is a rare condition, there are no guidelines with respect to the follow-up of pregnant women with MEN1...
July 2016: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28470558/phase-ii-study-of-lanreotide-autogel-in-japanese-patients-with-unresectable-or-metastatic-well-differentiated-neuroendocrine-tumors
#20
Tetsuhide Ito, Yoshitaka Honma, Susumu Hijioka, Atsushi Kudo, Akira Fukutomi, Akira Nozaki, Yasutoshi Kimura, Fuyuhiko Motoi, Hiroyuki Isayama, Izumi Komoto, Seiichi Hisamatsu, Akihiro Nakajima, Akira Shimatsu
Background Lanreotide is a long-acting somatostatin analog with demonstrated efficacy against enteropancreatic neuroendocrine tumor (NET) in the phase III (CLARINET) study. Materials and Methods In this single-arm study, Japanese patients with grade (G) 1/G2 NET received lanreotide (120 mg/4 weeks) for 48 weeks. Those who completed the study were enrolled in a long-term extension study. The primary endpoint was the clinical benefit rate (CBR) defined as a complete response, partial response (PR), or stable disease (SD) over 24-weeks...
May 3, 2017: Investigational New Drugs
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