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https://www.readbyqxmd.com/read/28649091/the-penetrance-of-men2-pheochromocytoma-is-not-only-determined-by-ret-mutations
#1
Frederic Castinetti, Ana Luiza Maia, Mariola Peczkowska, Marta Barontini, Kornelia Hasse-Lazar, Thera P Links, Rodrigo Almeida Toledo, Sarka Dvorakova, Caterina Mian, Maria Joao Bugalho, Stefania Zovato, Maria Alevizaki, Andrei Kvachenyuk, Birke Bausch, Paola Loli, Simona Raluca Bergmann, Attila Patocs, Marija Pfeifer, Fina Biarnes, Ernst von Dobschuetz, Claudio Letizia, Gerlof D Valk, Marcin Barczynski, Malgorzata Czetwertynska, John Tm Plukker, Paola Sartorato, Tomas Zelinka, Petr Vlcek, Svetlana Yaremchuk, Georges Weryha, Letizia Canu, Nelson Wohllk, Frederic Sebag, Martin K Walz, Charis Eng, Hartmut P H Neumann
Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations. The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheochromocytoma depending on RET mutations. However, other factors could modify the natural history of pheochromocytoma. We collected data from a large international cohort, based on 812 patients, and grouped them according to 4 geographical areas: South America, Southern Europe, Central Europe and Western Europe...
June 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28647780/analysis-of-newly-identified-and-rare-synonymous-genetic-variants-in-the-ret-gene-in-patients-with-medullary-thyroid-carcinoma-in-polish-population
#2
Maria Sromek, Małgorzata Czetwertyńska, Magdalena Tarasińska, Aneta Janiec-Jankowska, Renata Zub, Maria Ćwikła, Dorota Nowakowska, Magdalena Chechlińska
Gain-of-function germline mutations of the RET proto-oncogene are responsible for initiation of carcinogenesis within the thyroid gland and development of hereditary form of medullary thyroid carcinoma and MEN2 syndrome. Genotype-phenotype correlations are established for most RET mutations, but the importance of the synonymous changes in this gene remains debatable. We aimed to analyze RET gene variants in Polish population. Genetic testing for the RET gene variants was performed with standard methods in 585 people aged 1-85, including 448 patients with medullary thyroid carcinoma and 131 of their first- and second-degree relatives, as well as six patients suspected of MTC/MEN2...
June 24, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28646462/diagnostic-utility-of-pet-ct-with-18-f-dopa-and-18-f-fdg-in-persistent-or-recurrent-medullary-thyroid-carcinoma-the-importance-of-calcitonin-and-carcinoembryonic-antigen-cutoff
#3
Ana Reyes Romero-Lluch, Juan Ignacio Cuenca-Cuenca, Raquel Guerrero-Vázquez, Antonio Jesús Martínez-Ortega, Juan Luis Tirado-Hospital, Isabel Borrego-Dorado, Elena Navarro-González
PURPOSE: This study sought to evaluate and compare the utility of 18-F-fluorodihydroxyphenylalanine ((18)F-DOPA) and 18-F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography/computed tomography (PET/CT) for identification of lesions in patients with recurrent medullary thyroid carcinoma (MTC). In addition, we analyzed the correlation between the calcitonin (Ct), carcinoembryonic antigen (CEA) levels, each doubling time (DT), and PET positivity. We evaluated the reliability of the 150 pg/mL Ct cutoff set by the American Thyroid Association guidelines for further imaging (including (18)F-DOPA PET/CT)...
June 23, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28636692/rethinking-the-current-american-joint-committee-on-cancer-tnm-staging-system-for-medullary-thyroid-cancer
#4
Mohamed Abdelgadir Adam, Samantha Thomas, Sanziana A Roman, Terry Hyslop, Julie A Sosa
Importance: Controversy exists around the American Joint Committee on Cancer (AJCC) TNM staging system for medullary thyroid cancer (MTC). Because of the rarity of the disease and limited available data, the staging system for MTC has been largely extrapolated from staging for differentiated thyroid cancer. Objectives: To evaluate how well the current (seventh and eighth editions) AJCC TNM staging system correlates with survival for patients with MTC and to suggest a possible revision...
June 21, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28635560/sorafenib-in-japanese-patients-with-locally-advanced-or-metastatic-medullary-thyroid-carcinoma-and-anaplastic-thyroid-carcinoma
#5
Yasuhiro Ito, Naoyoshi Onoda, Ken-Ichi Ito, Iwao Sugitani, Shunji Takahashi, Iku Yamaguchi, Koki Kabu, Katsuya Tsukada
BACKGROUND: Therapeutic options for treating advanced or metastatic medullary thyroid carcinoma (MTC) and anaplastic thyroid carcinoma (ATC) are still limited in Japan even though vandetanib for MTC, and lenvatinib for MTC and ATC have been approved. Sorafenib is an oral multikinase inhibitor approved for the treatment of patients with radioactive iodine-refractory (RAI-R) differentiated thyroid cancer (DTC). We conducted an uncontrolled, open-label, multicenter, single-arm, phase 2 clinical study to evaluate the safety and efficacy of sorafenib in Japanese patients with MTC and ATC...
June 21, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28634649/assessment-of-cabozantinib-treatment-on-qt-interval-in-a-phase-3-study-in-medullary-thyroid-cancer-evaluation-of-indirect-qt-effects-mediated-through-treatment-induced-changes-in-serum-electrolytes
#6
Dale R Miles, Steven A Lacy, David R Wada, Steve Milwee, Yifah Yaron, Linh T Nguyen
PURPOSE: This study evaluated factors impacting QTc interval in a phase 3 trial of cabozantinib in progressive, metastatic, medullary thyroid cancer (MTC). METHODS: Electrocardiogram (12-lead ECG) measurements were obtained at screening, and at pre-dose, and 2, 4, and 6 h post-dose on Days 1 and 29 in a phase 3 study in patients with MTC treated with cabozantinib (140 mg/day). Central tendency analyses were conducted on baseline-corrected QTc values. Linear and nonlinear mixed-effects models were used to evaluate potential factors affecting the QTc interval, including serum electrolytes, patient demographics, and cabozantinib concentration...
June 20, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28628064/exercise-training-reduces-intrathoracic-fat-regardless-of-defective-glucose-tolerance
#7
Sanna M Honkala, Kumail K Motiani, Jari-Joonas Eskelinen, Anna Savolainen, Virva Saunavaara, Kirsi A Virtanen, Eliisa Löyttyniemi, Jukka Kapanen, Juhani Knuuti, Kari K Kalliokoski, Jarna C Hannukainen
PURPOSE: Epicardial (EAT) and pericardial (PAT) fat masses and myocardial triglyceride content (MTC) are enlarged in obesity and insulin resistance. We studied whether the high-intensity interval training (HIIT) and moderate-intensity continuous training (MICT) similarly decrease ectopic fat in and around the heart and whether the decrease is similar in healthy subjects and subjects with defective glucose tolerance (DGT). METHODS: A total of 28 healthy men (body mass index = 20...
July 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28621690/ratio-of-positive-lymph-nodes-the-prognostic-value-in-stage-iv-thyroid-cancer
#8
Tingyin Jiang, Chunling Huang, Yuan Xu, Yingrui Su, Guanjie Zhang, Long Xie, Liqun Huang, Shuchun You, Jinshun Zha
To assess the prognostic value of lymph node ratio (LNR) in patients with stage IV thyroid cancer based on the Surveillance, Epidemiology, and End Results (SEER) database. A total of 4,940 eligible patients were included for the analysis. Kaplan-Meier survival analysis and Cox proportional hazard regression were used to reveal the effect of LNR on overall survival (OS) and disease specific survival (DSS). The optimal cut-off value of LNR for predicting OS and DSS was determined by the time-dependent Receiver Operating Characteristic analysis...
June 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28614009/the-combined-use-of-calcitonin-doubling-time-and-18-f-fdg-pet-ct-improves-prognostic-values-in-medullary-thyroid-carcinoma-the-clinical-utility-of-18-f-fdg-pet-ct
#9
Ji H Yang, Cléber P Camacho, Susan C Lindsey, Flavia O F Valente, Danielle M Andreoni, Lilian Y Yamaga, Jairo Wagner, Rosa Paula M Biscolla, Rui M B Maciel
OBJECTIVE: Calcitonin and carcinoembryonic antigen (CEA) doubling times are established prognostic markers in medullary thyroid cancer (MTC). On the other hand, positron emission tomography with fluorine-18 fluorodeoxyglucose ((18)F-FDG PET/CT) shows an increased rate of detection with high blood tumor marker levels in several cancers. This study aims to analyze the ability of (18)F-FDG PET/CT to determine prognosis in the followup of patients with MTC. METHODS: Medical records of 17 patients with MTC who underwent (18)F-FDG PET/CT were analyzed retrospectively...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28612087/effects-of-vascular-formation-during-alveolar-bone-process-morphogenesis-in-mice
#10
Seo-Young An, Ye-Ji Lee, Sanjiv Neupane, Jong-Hwa Jun, Ji-Youn Kim, Youngkyun Lee, Karp-Shik Choi, Chang-Hyeon An, Jo-Young Suh, Hong-In Shin, Wern-Joo Sohn, Jae-Young Kim
The alveolar bone process is the thickened ridge of bone that bears the teeth and is known to have dynamic functional interactions with surrounding tissues. However, the detailed morphological changes that occur during alveolar bone process development and the underlying molecular mechanisms behind this morphogenesis have not been elucidated. In this study, we examined the detailed morphological changes of the alveolar bone process during mouse development using HE and MTC staining. In addition, we evaluated the precise localization pattern of various signaling molecules involved in blood vessel formation including CD31, α-SMA, VEGF, periostin, and TGF-β...
June 13, 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28610401/oncogenesis-of-thyroid-cancer
#11
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/28609830/medullary-thyroid-carcinoma-in-men2a-ata-moderate-or-high-risk-ret-mutations-do-not-predict-disease-aggressiveness
#12
Rachel K Voss, Lei Feng, Jeffrey E Lee, Nancy D Perrier, Paul H Graham, Samual M Hyde, Frances Nieves-Munoz, Maria E Cabanillas, Steven G Waguespack, Gilbert J. Cote, Robert F Gagel, Elizabeth G Grubbs
Context: High-risk RET mutations (codon 634) are associated with earlier development of medullary thyroid carcinoma (MTC) and presumed increased aggressiveness compared with moderate-risk RET mutations. Objective: To determine if high-risk RET mutations are more aggressive Design: Retrospective cohort study utilizing institutional MEN2 registry Setting: A tertiary cancer care center Patients: Those with MTC and moderate- or high-risk germline RET mutation...
May 9, 2017: Journal of Clinical Endocrinology and Metabolism
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
#13
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/28600450/establishing-a-legal-service-for-major-trauma-patients-at-a-major-trauma-centre-in-the-uk
#14
William H Seligman, Julian Thompson, Hannah E Thould, Charlotte Tan, Andrew Dinsmore, David J Lockey
BACKGROUND: Major trauma causes unanticipated critical illness and patients have often made few arrangements for what are sudden and life-changing circumstances. This can lead to financial, housing, insurance, legal and employment issues for patients and their families.A UK law firm worked with the major trauma services to develop a free and comprehensive legal service for major trauma patients and their families at a major trauma centre (MTC) in the UK. METHODS: In 2013, a legal service was established at North Bristol NHS Trust...
June 9, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28591772/biological-evaluation-of-a-novel-fluorescent-imaging-agent-for-medullary-thyroid-cancer-in-an-orthotopic-model
#15
Kara K Rossfeld, Steven E Justiniano, Haiming Ding, Li Gong, Shankaran Kothandaraman, Dwitiya Sawant, Motoyasu Saji, Chadwick L Wright, Lawrence S Kirschner, Matthew D Ringel, Michael F Tweedle, John E Phay
Context: The primary and definitive treatment for medullary thyroid cancer (MTC) is surgical resection. Recurrent or residual disease is typically a result of incomplete surgical removal. Objective: Our objective is to develop a compound which assists in intraoperative visualization of cancer which would have the potential to improve surgical cure rates and outcomes. Results: We report the biological characterization of Compound -17, which is labeled with IRdye800, allowing fluorescent visualization of medullary thyroid cancer mouse models...
June 7, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28589086/lymph-node-metastases-in-papillary-and-medullary-thyroid-carcinoma-are-independent-of-intratumoral-lymphatic-vessel-density
#16
Filipe Pereira, Sofia S Pereira, Marta Mesquita, Tiago Morais, Madalena M Costa, Pedro Quelhas, Carlos Lopes, Mariana P Monteiro, Valeriano Leite
BACKGROUND: Blood and lymph vessel invasion are well-recognized markers of tumor aggressiveness, as these are the routes that lead to metastases. Thyroid tumors, depending on the histological variant, tend to have distinctive biological behaviors and use different vascular routes to metastasize, yet the mechanisms underlying the metastatic process are still poorly understood. OBJECTIVES: The aim of this study was to assess how the lymph vessel density (LVD) in different histological types of thyroid tumors, and in their surrounding tissue, correlate with the presence of lymph node metastases (LNM) and tumor pathological features...
April 2017: European Thyroid Journal
https://www.readbyqxmd.com/read/28585679/diagnostic-value-of-selected-biochemical-markers-in-the-detection-of-recurrence-of-medullary-thyroid-cancer-comparison-of-calcitonin-procalcitonin-chromogranin-a-and-carcinoembryonic-antigen
#17
Kosma Woliński, Jarosław Kaznowski, Aleksandra Klimowicz, Adam Maciejewski, Dagny Łapińska-Cwojdzińska, Edyta Gurgul, Adrian D Car, Marta Fichna, Paweł Gut, Maria Gryczyńska, Marek Ruchała
INTRODUCTION: Medullary thyroid cancer (MTC) is a malignancy of the thyroid gland, which derives from parafollicular C cells. Periodic measurement of biochemical markers of MTC remains a crucial part of patient follow-up and disease monitoring. The aim of the study was to compare the diagnostic value of four selected markers - calcitonin (Ct), procalcitonin (PCT), chromogranin A (CgA), and carcinoembryonic antigen (CEA). METHODS: Patients with histopathologically confirmed MTC hospitalised in a single department between January 2015 and December 2015 were included in the study...
June 6, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28569245/genetic-diagnosis-of-a-chinese-multiple-endocrine-neoplasia-type-2a-family-through-whole-genome-sequencing
#18
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/28567290/acth-secreting-medullary-thyroid-cancer-a-case-series
#19
Ayanthi A Wijewardene, Sarah J Glastras, Diana L Learoyd, Bruce G Robinson, Venessa H M Tsang
Medullary thyroid cancer (MTC) is a rare neuroendocrine tumour that originates from the parafollicular cells of the thyroid gland. The most common presentation of MTC is with a single nodule; however, by the time of diagnosis, most have spread to the surrounding cervical lymph nodes. Cushing's syndrome is a rare complication of MTC and is due to ectopic adrenocorticotrophic hormone (ACTH) secretion by tumour cells. Cushing's syndrome presents a challenging diagnostic and management issue in patients with MTC...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28562377/the-value-of-18f-dopa-pet-ct-in-patients-with-medullary-thyroid-carcinoma-and-increased-calcitonin-values
#20
Anja T Golubić, Eva Pasini Nemir, Marijan Žuvić, Andrea Mutvar, Sanja Kusačić Kuna, Marija Despot, Tatjana Samardžić, Dražen Huić
AIM: The aim of this prospective observational study was to examine the benefit of a fluorine-18-L-dihydroxyphenylalanine (F-DOPA) PET/computed tomography (CT) scan in patients with medullary thyroid carcinoma (MTC) in terms of increased calcitonin levels. PATIENTS AND METHODS: Twenty-eight MTC patients after initial total thyreoidectomy with increasing follow-up calcitonin levels suggestive for active disease after negative conventional imaging findings (neck ultrasound or thorax, abdomen, pelvis multislice computed tomography as standard imaging) were scanned using F-DOPA PET/CT from November 2012 to April 2016...
May 30, 2017: Nuclear Medicine Communications
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