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Medullary thyroid carcinoma

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https://www.readbyqxmd.com/read/29158289/next-generation-panel-sequencing-identifies-nf1-germline-mutations-in-three-patients-with-pheochromocytoma-but-no-clinical-diagnosis-of-neurofibromatosis-type-1
#1
Laura Gieldon, Jimmy Rusdian Masjkur, Susan Richter, Roland Därr, Marcos Lahera, Daniela E Aust, Silke Zeugner, Andreas Rump, Karl Hackmann, Andreas Tzschach, Andrzej Januszewicz, Aleksander Prejbisz, Graeme Eisenhofer, Evelin Schroeck, Mercedes Robledo, Barbara Klink
Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next generation sequencing (NGS) multi-gene panel analysis. Derived from this study we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of Neurofibromatosis Type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients...
November 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29142834/two-stage-thyroidectomy-in-the-era-of-intraoperative-neuromonitoring
#2
Christos Christoforides, Ioannis Papandrikos, Georgios Polyzois, Nikolaos Roukounakis, Gianlorenzo Dionigi, Kyriakos Vamvakidis
Background: The use of intraoperative neuromonitoring (IONM) provides surgeons with real time information about recurrent laryngeal nerves (RLN) functional integrity. Hence, allowing them to modify the initially scheduled bilateral procedure, to a two-stage thyroidectomy in cases of loss of signal (LOS) on the first side of resection resulting in minimization of bilateral RLN injury. The purpose of our study was to present our results since the implementation of the above mentioned process in both malignant and benign thyroid disease...
October 2017: Gland Surgery
https://www.readbyqxmd.com/read/29142006/characterization-of-neuroendocrine-tumors-in-heterozygous-mutant-menx-rats-a-novel-model-of-invasive-medullary-thyroid-carcinoma
#3
Sara Molatore, Andrea Kügler, Martin Irmler, Tobias Wiedemann, Frauke Neff, Annette Feuchtinger, Johannes Beckers, Mercedes Robledo, Frederico Roncaroli, Natalia S Pellegata
Rats affected by the MENX syndrome spontaneously develop multiple neuroendocrine tumors (NETs) including adrenal, pituitary and thyroid gland neoplasms. MENX was initially reported to be inherited as a recessive trait and affected rats were found to be homozygous for the predisposing Cdkn1b mutation encoding p27. We here report that heterozygous MENX mutant rats (p27+/mut) develop the same spectrum of NETs seen in the homozygous (p27mut/mut) animals but with slower progression. Consequently, p27+/mut rats have a significantly shorter lifespan compared with their wild-type (p27+/+) littermates...
November 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29142004/advances-in-the-management-of-men2
#4
Samuel Wells
Medullary thyroid carcinoma (MTC), a tumor derived from the neural crest, occurs either sporadically or as the dominant component of the type 2 multiple endocrine neoplasia (MEN) syndromes, MEN2A and MEN2B. The discovery that mutations in the RET protooncogene cause hereditary MTC was of great importance, since it led to the development of novel methods of diagnosis and treatment. For example, the detection of a mutated RET allele in family members at risk for inheriting MEN2A or MEN2B signaled that they would develop MTC, and possibly other components of the syndromes...
November 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29134313/long-term-outcome-after-surgery-for-medullary-thyroid-carcinoma-a-single-center-experience
#5
Francesca Torresan, Elisabetta Cavedon, Caterina Mian, Maurizio Iacobone
BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare C cells-derived tumor, with a hardly predictable long-term prognosis. This study was aimed to evaluate the predictive factors of cure and survival after surgery for MTC in a monocentric series. METHODS: A retrospective analysis of the long-term outcomes was assessed in 255 MTC patients operated between 1980 and 2015 at Padua University hospital. RESULTS: Sporadic MTC occurred in 65.1% and hereditary MTC in 34...
November 13, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29126344/genetic-and-epigenetic-of-medullary-thyroid-cancer
#6
Fatemeh Khatami, Seyed Mohammad Tavangar
Medullary thyroid carcinoma (MTC) is an infrequent, calcitonin producing neuroendocrine tumor and initiates from the parafollicular C cells of the thyroid gland. Several genetic and epigenetic alterations are collaterally responsible for medullary thyroid carcinogenesis. In this review article, we shed light on all the genetic and epigenetic hallmarks of MTC. From the genetic perspective, RET, HRAS, and KRAS are the most important genes that are characterized in MTC. From the epigenetic perspective, Ras-association domain family member 1A, telomerase reverse transcriptase promoter methylations, overexpression of histone methyltransferases, EZH2 and SMYD3, and wide ranging increase and decrease in non-coding RNAs can be responsible for medullary thyroid carcinogenesis...
November 11, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29124912/metastatic-medullary-thyroid-carcinoma-or-calcitonin-secreting-carcinoid-tumor-of-lung-a-diagnostic-dilemma-in-a-patient-with-lung-mass-and-thyroid-nodule
#7
Shifteh Vahidi, Jimmie Stewart, Khalid Amin, Emilian Racila, Faqian Li
Calcitonin-secreting neuroendocrine tumors are rare and have been reported in literature as case reports or case series in various organs including lung, pancreas, larynx, bladder, and ovary. These tumors have similar cytologic features and immunohistochemical profile to medullary thyroid carcinoma and thus it is difficult to distinguish them, especially when calcitonin-secreting neuroendocrine tumors are intermediate or higher grade and there is a mass lesion in the thyroid gland. Here, we report a rare case of calcitonin secreting atypical carcinoid tumor of the lung in a patient with thyroid nodule...
November 10, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29120653/-thyroid-carcinomas-the-present-view-on-diagnostics-and-therapy
#8
Petr Vlček, Dana Nováková, Rami Katra
Thyroid carcinoma (TC) represents 1-2 % of all human tumors, and is the seventh most common tumor. Women are in large majority among new patients. For women, this is the fifth most common tumor. In the Czech Republic, 1 143 new cases of TC were diagnosed in 2015. It is the tumor with the highest increase in incidence. Among newly diagnosed tumors, most of those are differentiated thyroid gland carcinomas (DTCs) originating from follicular thyroid cells. These tumors are follicular and papillary carcinomas and Hurthle carcinoma, accounting for 95 % of new cases...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29118989/patients-with-papillary-thyroid-carcinoma-associated-with-high-stimulated-serum-calcitonin-levels
#9
Kursad Unluhizarci, Hulya Akgun, Bahadır Oz, Zuleyha Karaca, Fatih Tanriverdi, Fahrettin Kelestimur
Among various substances produced by C-cells, the most important one is calcitonin (CT) that is used for detection, post-operative follow-up and evaluation of individuals at risk of developing medullary thyroid carcinoma (MTC). However, the role of serum CT measurement in the evaluation of thyroid nodules has been widely discussed, and there is still no consensus about the role of CT in the initial evaluation of all thyroid nodules. Two patients with thyroid nodules whose fine-needle aspiration results were compatible with benign cytology besides having mildly elevated basal serum calcitonin levels were reported...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29112684/cxcr4-cxcr7-cxcl12-axis-promotes-an-invasive-phenotype-in-medullary-thyroid-carcinoma
#10
Thomas A Werner, Christina M Forster, Levent Dizdar, Pablo E Verde, Katharina Raba, Matthias Schott, Wolfram T Knoefel, Andreas Krieg
BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare and challenging endocrine malignancy. Once spread, the therapeutic options are limited and the outcome poor. For these patients, the identification of new druggable biological markers is of great importance. Here, we investigated the prognostic and biological role of the C-X-C chemokine receptors type 4 and 7 (CXCR4/7) in MTC. METHODS: Eighty-six MTC and corresponding non-neoplastic thyroid specimens were immunohistochemically stained for CXCR4/7 using tissue microarray technology and expression levels correlated with clinicopathological variables...
November 7, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29107050/microrna-21-and-long-non-coding-rna-malat1-are-overexpressed-markers-in-medullary-thyroid-carcinoma
#11
Ying-Hsia Chu, Heather Hardin, David F Schneider, Herbert Chen, Ricardo V Lloyd
BACKGROUND: Non-coding RNAs, including microRNAs (miRNAs) and long non-coding RNAs (lncRNAs), are well-recognized post-transcriptional regulators of gene expression. This study examines the expression of microRNA-21 (miR-21) and lncRNA MALAT1 in medullary thyroid carcinomas (MTCs) and their effects on tumor behavior. METHODS: Tissue microarrays (TMAs) were constructed using normal thyroid (n=39), primary tumors (N=39) and metastatic MTCs (N=18) from a total of 42 MTC cases diagnosed between 1987 and 2016...
October 26, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29105562/reduced-retinoblastoma-protein-expression-is-associated-with-decreased-patient-survival-in-medullary-thyroid-cancer
#12
Anisley Valenciaga, Elizabeth G Grubbs, Kyle Porter, Paul E Wakely, Michelle D Williams, Gilbert J Cote, Vasyl V Vasko, Motoyasu Saji, Matthew D Ringel
BACKGROUND: The Retinoblastoma (RB) transcriptional corepressor 1 protein functions to slow cell cycle progression. Inactivation of RB by reduced expression and/or hyperphosphorylation allow for enhanced progression through cell cycle. Murine models develop medullary thyroid carcinoma (MTC) after generalized loss of RB; however, RB expression in MTC has been evaluated only in a small number of tumors with differing results. The objective of this study is to determine whether reduced expression of RB and/or overexpression of hyperphosphorylated RB predict MTC aggressive behavior...
November 4, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29079175/aberrant-expression-of-cd20-in-thyroid-cancer-and-its-clinicopathologic-significance
#13
Andrey Bychkov, Chan Kwon Jung
CD20 is the first line diagnostic marker of B-cells, which serves as the target of the therapeutic monoclonal antibodies in B-cell lymphomas and leukemias. Recently, aberrant CD20 expression has been described in a small series of papillary thyroid carcinomas (PTC). We aimed to evaluate CD20 immunoexpression and to perform clinicopathologic correlation in a large set of thyroid tumors, including a cohort of high-grade thyroid cancer. A total of 625 cases of thyroid tumor comprised tissue microarrays of 538 PTCs and 47 follicular adenomas, and whole-slide sections of 40 aggressive thyroid carcinomas (10 radioiodine-refractory PTCs, 8 poorly differentiated, 5 anaplastic and 17 medullary thyroid carcinomas) were immunostained with anti-CD20 monoclonal antibody...
October 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/29077890/corrigendum-for-letter-to-the-editor-medullary-thyroid-carcinoma-in-men2a-ata-moderate-or-high-risk-ret-mutations-do-not-predict-disease-aggressiveness
#14
(no author information available yet)
No abstract text is available yet for this article.
October 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-men2
#15
Joanna Grey, Kym Winter
Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing...
October 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29066476/role-of-cdkn2c-fluorescence-in-situ-hybridization-in-the-management-of-medullary-thyroid-carcinoma
#16
Maha El Naofal, Adriel Kim, Hui Yi Yon, Mohamed Baity, Zhao Ming, Jacquelin Bui-Griffith, Zhenya Tang, Melissa Robinson, Elizabeth G Grubbs, Gilbert J Cote, Peter Hu
Medullary thyroid carcinoma (MTC), an aggressive form of thyroid cancer, occurs sporadically in approximately 75% of MTCs. RET and RAS mutations play a role in about 40% and 15%, respectively, of sporadic MTCs and are predominant drivers in MTC pathways. These mutations are some of the most comprehensively described and screened for in MTC patients; however, in recent studies, other mutations in the CDKN2C gene (p18) have been implicated in the tumorigenesis of MTC. Comparative genomic hybridization analysis revealed that approximately 40% of sporadic MTC samples have loss of CDKN2C at chromosome 1p32 in addition to frequent losses of CDKN2D (p19) at chromosome 19p13...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29063495/calcitonin-producing-neuroendocrine-neoplasms-of-the-pancreas-clinicopathological-study-of-25-cases-and-review-of-the-literature
#17
Silvia Uccella, Annika Blank, Roberta Maragliano, Fausto Sessa, Aurel Perren, Stefano La Rosa
Increased levels of circulating calcitonin are a clue in the diagnosis of medullary thyroid carcinoma. However, hypercalcitoninemia can also be related to other pathological conditions, including pancreatic neuroendocrine neoplasms (PanNENs). Ectopic hormonal production is not unusual in both functioning and non-functioning PanNENs; however, little is known about the frequency of calcitonin expression in these neoplasms. The aims of this study were to assess the frequency of calcitonin immunoreactivity in PanNENs, independently from serum calcitonin levels, and to evaluate the clinicopathological and prognostic features of calcitonin-immunoreactive (Cal-IR) PanNENs, including a comparison with cases already reported in the literature...
December 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/29061021/-dye-tattooing-under-ultrasound-guidance-in-preoperative-localization-of-neck-recurrences-from-thyroid-cancer
#18
X W Zhang, B Zhang, L J Niu, D G Yan, Y Wang, L Zhu, Y B Zhang, Y Y He, Z G Xu, P Z Tang
Objective: To evaluate the efficacy and safety of the application of dye-tattooing under ultrasound guidance in preoperative localization of neck recurrences from thyroid cancer. Methods: Between October 2014 to September 2016, 25 patients with 34 lesions were enrolled. There were 22 cases of papillary thyroid carcinoma and three cases of medullary thyroid carcinoma, all of which could not be detected by computed tomography. Surgeons located the recurrent lesions using dye-tattooing under ultrasound guidance along with radiologist three days before the operation...
October 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/29049491/dermal-hyperneury-and-multiple-sclerotic-fibromas-in-multiple-endocrine-neoplasia-type-2a-syndrome
#19
Victoria Alegría-Landa, Margarita Jo-Velasco, Mercedes Robledo, Luis Requena
Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC)...
October 18, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29045520/overall-survival-analysis-of-exam-a-phase-iii-trial-of-cabozantinib-in-patients-with-radiographically-progressive-medullary-thyroid-carcinoma
#20
M Schlumberger, R Elisei, S Müller, P Schöffski, M Brose, M Shah, L Licitra, J Krajewska, M C Kreissl, B Niederle, E E W Cohen, L Wirth, H Ali, D O Clary, Y Yaron, M Mangeshkar, D Ball, B Nelkin, S Sherman
Background: Primary analysis of the double-blind, phase III Efficacy of XL184 (Cabozantinib) in Advanced Medullary Thyroid Cancer (EXAM) trial demonstrated significant improvement in progression-free survival with cabozantinib versus placebo in patients with progressive medullary thyroid cancer (MTC). Final analysis of overall survival (OS), a key secondary endpoint, was carried out after long-term follow-up. Patients and methods: EXAM compared cabozantinib with placebo in 330 patients with documented radiographic progression of metastatic MTC...
November 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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