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https://read.qxmd.com/read/30763276/genotype-and-phenotype-landscape-of-men2-in-554-medullary-thyroid-cancer-patients-the-brasmen-study
#1
Rui M B Maciel, Cleber P Camacho, Ligia Vm Assumpcao, Natassia Elena Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro, Lucieli Ceolin, Janete Maria Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla Vaz Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar Muniz Lourenco-Jr, Lea Maria Zanini Maciel, Patrícia K R Magalhães, João R M Martins, M Cecilia Martins-Costa, Glaucia M F S Mazeto, Anelise Impellizzeri, Célia Regina Nogueira, Edenir I Palmero, Cencita Cordeiro Pessoa, Bibiana Prada, Debora R Siqueira, M Sharmila A Sousa, Rodrigo Toledo, Flávia O F Valente, F Vaisman, Laura Sterian Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus Regio Dias Da Silva, Ana O Hoff, Sergio Pa Toledo, Ana Luiza Maia
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumours. Several reports have demonstrated that the RET mutation profile may vary according to geographical area. In this study we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries...
February 1, 2019: Endocrine Connections
https://read.qxmd.com/read/30747051/microsatellite-instability-occurs-in-a-subset-of-follicular-thyroid-cancers
#2
Luke K Genutis, Jerneja Tomsic, Ralf Bundschuh, Pamela Brock, Michelle D Williams, Sameek Roychowdhury, Julie W Reeser, Wendy L Frankel, Mohammed Alsomali, Mark J Routbort, Russell R Broaddus, Paul E Wakely, John E Phay, Christopher J Walker, Albert de la Chapelle
BACKGROUND: Inactivation of DNA mismatch repair (MMR) and the resulting microsatellite instability (MSI) are frequently observed in endometrial, stomach and colorectal cancers as well as more rarely in other solid tumor types. The prevalence of MSI in thyroid cancer has not been explored in-depth, although recent studies utilizing data from large cancer sequencing efforts such as The Cancer Genome Atlas indicate MSI is absent or at least very rare in the most common and most well-studied histologic subtype, papillary carcinoma...
February 12, 2019: Thyroid: Official Journal of the American Thyroid Association
https://read.qxmd.com/read/30741441/clinical-translation-of-theranostic-radiopharmaceuticals-current-regulatory-status-and-recent-examples
#3
Petra Kolenc Peitl, Christine Rangger, Piotr Garnuszek, Renata Mikolajczak, Alicja Hubalewska-Dydejczyk, Theodosia Maina, Paola Erba, Clemens Decristoforo
With the development of ever more radiopharmaceuticals suitable for theranostic applications, translation of novel compounds from the preclinical stage towards clinical application becomes a bottleneck for the advances in Nuclear Medicine. This review article summarizes the current regulatory framework for clinical trials with radiopharmaceuticals in the European Union, provides a general overview of the documentation required and addresses quality, safety and clinical aspects to be considered. By using a recent successful example of translating a theranostic peptide radioligand, namely 111 In-CP04, which targets receptors expressed in medullary thyroid carcinoma, the pathway from the preclinical development over establishing the required pharmaceutical documentation to designing and submitting a clinical trial is reviewed...
February 11, 2019: Journal of Labelled Compounds & Radiopharmaceuticals
https://read.qxmd.com/read/30725475/time-to-calcitonin-normalization-after-surgery-for-node-negative-and-node-positive-medullary-thyroid-cancer
#4
A Machens, K Lorenz, H Dralle
BACKGROUND: It remains unclear when postoperative serum calcitonin levels should be measured in patients with medullary thyroid cancer (MTC) and, specifically, whether this decision should be based on the preoperative calcitonin level or nodal status. METHODS: A cohort of patients with previously untreated MTC was studied. Kaplan-Meier analyses, stratified by preoperative calcitonin level, nodal status and number of nodal metastases, were performed to determine time to calcitonin normalization after initial surgery, with statistical analysis by means of the log rank test...
February 6, 2019: British Journal of Surgery
https://read.qxmd.com/read/30717909/management-of-medullary-thyroid-cancer
#5
REVIEW
David Viola, Rossella Elisei
Medullary thyroid cancer (MTC) is rare but aggressive. It can be cured only if intrathyroid at diagnosis. MTC can be sporadic (75%) or familial (25%) and the 2 forms are distinguished by RET mutations analysis. Calcitonin is the specific serum marker; its doubling time is the most important prognostic factor for survival and progression; 30% of MTC patients have distant metastases at diagnosis and, when progressing, systemic therapy with vandetanib or cabozantinib should be considered. Before starting this treatment, the possibility of using a local treatment should be evaluated to delay systemic therapy...
March 2019: Endocrinology and Metabolism Clinics of North America
https://read.qxmd.com/read/30716812/-a-review-on-the-ret-proto-oncogene-mutation-in-medullary-thyroid-carcinoma
#6
REVIEW
J Z Zhao, L Guo, J Q Zhao, J L Lou, X R Tan
Medullary thyroid carcinoma(MTC) is a special type of neuroendocrine tumor originated from C-cells of the thyroid gland, MTC can be divided into sporadic(70%-80%)and hereditary(20%-30%), about 98% of the hereditary MTC patients have RET proto-oncogene germline mutation in exon 10, 11, 13, 14, 15, 16. The mutation of RET proto oncogene is closely related to the pathogenesis of MTC, and different mutation of RET proto oncogene exon may lead to different MTC phenotypes.More than 100 kinds of mutations in the RET gene were reported...
November 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://read.qxmd.com/read/30712289/plasmacytoid-morphology-of-poorly-differentiated-thyroid-carcinoma-diagnostic-approach-with-brief-review-of-literature
#7
Debasis Gochhait, Praveena Edura, Rajesh Nachiappa Ganesh, Neelaiah Siddaraju, Vidhyalakshmi Rangarajan, Thara Keloth
Poorly differentiated thyroid carcinoma (PDTC) is an uncommon neoplasm of thyroid accounting for 4-7% of all thyroid neoplasm's (1) that are rarely diagnosed accurately on cytology. Medullary thyroid carcinoma (MTC) is the most frequent primary thyroid neoplasm manifesting with plasmacytoid morphology possibly followed by Hürthle neoplasm (HCN) because of their high incidence compared to other subtypes of malignancy. The plasmacytoid morphology in other primary thyroid neoplasms is uncommon and distinguishing such neoplasm's from MTC is crucial for the clinical management of patients presenting with neoplastic thyroid nodules...
February 3, 2019: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://read.qxmd.com/read/30701022/preclinical-characterization-of-tyrosine-kinase-inhibitor-based-targeted-therapies-for-neuroendocrine-thyroid-cancer
#8
Karine Pozo, Stefan Zahler, Keisuke Ishimatsu, Angela M Carter, Rahul Telange, Chunfeng Tan, Shuaijun Wang, Roswitha Pfragner, Junya Fujimoto, Elizabeth Gardner Grubbs, Masaya Takahashi, Sarah C Oltmann, James A Bibb
Medullary thyroid carcinoma (MTC) is a slow growing neuroendocrine (NE) tumor for which few treatment options are available. Its incidence is rising and mortality rates have remained unchanged for decades. Increasing the repertoire of available treatments is thus crucial to manage MTC progression. Scarcity of patient samples and of relevant animal models are two challenges that have limited the development of effective non-surgical treatments. Here we use a clinically accurate mouse model of MTC to assess the effects and mode of action of the tyrosine kinase inhibitor (TKI) Vandetanib, one of only two drugs currently available to treat MTC...
December 28, 2018: Oncotarget
https://read.qxmd.com/read/30694510/revisiting-the-significance-of-prominent-c-cells-in-the-thyroid
#9
Talia L Fuchs, Stephen E Bell, A Chou, Anthony J Gill
C cell hyperplasia is considered a precursor lesion for hereditary forms of medullary thyroid carcinoma. It has therefore been suggested as a morphological marker to distinguish hereditary from sporadic medullary thyroid carcinoma and to triage genetic testing in resource poor settings. However, numerous definitions for C cell hyperplasia have been suggested, and there is surprisingly little data regarding the number of C cells present in thyroid glands removed for conditions other than medullary carcinoma...
January 29, 2019: Endocrine Pathology
https://read.qxmd.com/read/30689685/predictors-of-response-outcomes-for-research-recruitment-through-a-central-cancer-registry-evidence-from-17-population-based-studies
#10
Morgan M Millar, Anita Y Kinney, Nicola J Camp, Lisa A Cannon-Albright, Mia Hashibe, David F Penson, Anne C Kirchhoff, Deborah W Neklason, Alicia W Gilsenan, Gretchen S Dieck, Antoinette M Stroup, Sandra L Edwards, Carrie Bateman, Marjorie E Carter, Carol Sweeney
When recruiting research participants through central cancer registries, high response fractions help ensure population-based representation. Using data from 17 recruitment efforts undertaken by the Utah Cancer Registry from 2007 to 2016, we conducted multivariable mixed effects logistic regression to identify case and study characteristics associated with making contact and obtaining cooperation of Utah cancer cases for the following studies: A Population-Based Childhood Cancer Survivor Cohort Study in Utah, Comparative Effectiveness Analysis of Surgery and Radiation for Prostate Cancer (CEASAR Study), Costs and Benefits of Follow-up Care for Adolescent and Young Adult Cancers, Genetic Analysis of Digestive Cancers, Genetic Epidemiology of Breast Cancer, Genetic Epidemiology of Chronic Lymphocytic Leukemia, Genetic Epidemiology of Multiple Myeloma, Head and Neck Cancer Susceptibility Genes, Impact of Remote Familial Colorectal Cancer Risk Assessment and Counseling (Family CARE Project), Medullary Thyroid Carcinoma (MTC) Surveillance Study Osteosarcoma Surveillance Study, the Prostate Cancer Outcomes Study, Risk Education & Assessment for Cancer Heredity Project (REACH Project), and the Utah Cancer Survivors Study...
January 25, 2019: American Journal of Epidemiology
https://read.qxmd.com/read/30689166/a-novel-combined-transoral-and-transcervical-surgical-approach-for-recurrent-metastatic-medullary-thyroid-cancer-to-the-parapharyngeal-space
#11
Shayanne A Lajud, Jaime A Aponte-Ortiz, Miguel Garraton, Laureano Giraldez
Medullary thyroid cancer (MTC) represents less than 1% of all thyroid cancers. Complete surgical resection remains the mainstay of treatment for locoregional disease. Unfortunately, patients with recurrence may present with metastasis to challenging anatomic locations. We describe the first case of a recurrent MTC metastatic to the parapharyngeal space (PPS) that was managed using a combined transoral robotic surgery (TORS) and transcervical (TC) approach. We review the presentation, natural history, diagnosis and management of recurrent MTC, and describe a novel combined TORS-TC surgical approach for the treatment of PPS metastasis...
January 28, 2019: Journal of Robotic Surgery
https://read.qxmd.com/read/30688132/men-2b-masquerading-as-chronic-blepharitis-and-euryblepharon
#12
Alison B Huggins, Jacqueline R Carrasco, Ralph C Eagle
This is a retrospective case description of a single male patient found to have multiple endocrine neoplasia syndrome type 2B (MEN 2B). At the age of 14, he presented for evaluation of ocular irritation and eyelid thickening. Intraoperative assessment revealed mucosal lesions on the anterior dorsum of his tongue and biopsy of multiple eyelid lesions disclosed bilateral submucosal neuromas, leading to the diagnosis of MEN 2B. MEN 2B is a potentially life-threatening syndrome due to the risk of developing medullary thyroid carcinoma (MTC) and pheochromocytoma...
January 27, 2019: Orbit
https://read.qxmd.com/read/30684230/-68-ga-dotanoc-and-18-f-fdg-pet-ct-in-metastatic-medullary-thyroid-carcinoma-novel-correlations-with-tumoral-biomarkers
#13
Pedro Souteiro, Patrícia Gouveia, Gonçalo Ferreira, Sandra Belo, Cláudia Costa, Davide Carvalho, Hugo Duarte, Inês Lucena Sampaio
OBJECTIVE: Metastatic disease is common in medullary thyroid carcinoma (MTC) and it is usually detected by raising calcitonin and carcinoembryonic antigen (CEA) levels. Nuclear medicine imaging has an important role in lesion identification/characterisation. We aim to compare 68 Ga-DOTANOC PET/CT and 18 F-FDG PET/CT performance and to explore the correlations between tumoral markers and functional imaging. METHODS: This a retrospective cross-sectional study including 13 patients with MTC and high calcitonin/CEA levels that underwent both 68 Ga-DOTANOC PET/CT and 18 F-FDG PET/CT...
January 25, 2019: Endocrine
https://read.qxmd.com/read/30675485/medullary-thyroid-carcinoma-why-is-specialization-mandatory
#14
REVIEW
Theresia Weber
Medullary thyroid carcinoma (MTC) represents a distinct form of thyroid cancer with a potentially aggressive behavior, early lymph node metastases, and sporadic as well as hereditary forms. Only surgery with total thyroidectomy and lymph node dissection is able to achieve biochemical cure. Due to the uncommon nature of MTC, a specialization in endocrine surgery for diagnosis as well as therapy of MTC seem to be mandatory for a successful treatment. Knowledge of genotype-phenotype correlations for hereditary forms or routine calcitonin screening for sporadic forms is important to analyze preoperative findings and plan surgical procedures...
December 2018: Visceral Medicine
https://read.qxmd.com/read/30675279/expression-profile-and-biological-function-of-mir-455-5p-in-colorectal-carcinoma
#15
Jinqiu Wang, Yang Lu, Yiyong Zeng, Leming Zhang, Kongliang Ke, Yu Guo
Underexpression of microRNA-455-5p (miR-455-5p) in medullary thyroid carcinoma, melanoma, gastric cancer and additional cancer types has been reported, which may be associated with carcinoma development. The present study aimed to evaluate the expression profile and biological role of miR-455-5p in colorectal carcinoma. Carcinoma tissues and adjacent tissue specimens from 40 patients with colorectal cancer were randomly collected. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis was conducted to detect the expression levels of miR-455-5p in colorectal carcinoma and adjacent normal tissues...
February 2019: Oncology Letters
https://read.qxmd.com/read/30666164/completeness-of-ret-testing-in-patients-with-medullary-thyroid-carcinoma-in-denmark-1997-2013-a-nationwide-study
#16
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Stefano Christian Londero, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Sören Möller, Mette Gaustadnes, Maria Rossing, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Background: The completeness of RE arranged during T ransfection ( RET ) testing in patients with medullary thyroid carcinoma (MTC) was recently reported as 60%. However, the completeness on a population level is unknown. Similarly, it is unknown if the first Danish guidelines from 2002, recommending RET testing in all MTC patients, improved completeness in Denmark. We conducted a nationwide retrospective cohort study aiming to evaluate the completeness of RET testing in the Danish MTC cohort...
2019: Clinical Epidemiology
https://read.qxmd.com/read/30660595/natural-history-treatment-and-long-term-follow-up-of-patients-with-multiple-endocrine-neoplasia-type-2b-an-international-multicentre-retrospective-study
#17
Frederic Castinetti, Steven G Waguespack, Andreas Machens, Shinya Uchino, Kornelia Lazaar, Gabriella Sanso, Tobias Else, Sarka Dvorakova, Xiao Ping Qi, Rossella Elisei, Ana Luisa Maia, John Glod, Delmar Muniz Lourenço, Nuria Valdes, Jes Mathiesen, Nelson Wohllk, Tushar R Bandgar, Delphine Drui, Marta Korbonits, Maralyn R Druce, Caroline Brain, Tom Kurzawinski, Atila Patocs, Maria Joao Bugalho, Andre Lacroix, Philippe Caron, Patricia Fainstein-Day, Francoise Borson Chazot, Marc Klein, Thera P Links, Claudio Letizia, Laura Fugazzola, Olivier Chabre, Letizia Canu, Regis Cohen, Antoine Tabarin, Anita Spehar Uroic, Dominique Maiter, Sandrine Laboureau, Caterina Mian, Mariola Peczkowska, Frederic Sebag, Thierry Brue, Delphine Mirebeau-Prunier, Laurence Leclerc, Birke Bausch, Amandine Berdelou, Akihiro Sukurai, Petr Vlcek, Jolanta Krajewska, Marta Barontini, Carla Vaz Ferreira Vargas, Laura Valerio, Lucieli Ceolin, Srivandana Akshintala, Ana Hoff, Christian Godballe, Barbara Jarzab, Camilo Jimenez, Charis Eng, Tsuneo Imai, Martin Schlumberger, Elizabeth Grubbs, Henning Dralle, Hartmut P Neumann, Eric Baudin
BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. METHODS: This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions...
January 16, 2019: Lancet Diabetes & Endocrinology
https://read.qxmd.com/read/30659851/modeling-malignancies-using-induced-pluripotent-stem-cells-from-chronic-myeloid-leukemia-to-hereditary-cancers
#18
Ali G Turhan, A Foudi, J W Hwang, C Desterke, F Griscelli, A Bennaceur-Griscelli
Over the last decade, the possibility of reprogramming malignant cells to a pluripotent state has been achieved in several hematological malignancies, including myeloproliferative neoplasms, myelodysplastic syndromes, and chronic myeloid leukemia (CML). It has been shown that it is readily possible to generate induced pluripotent stem cells (iPSCs) from several types of primary CML cells and to generate progenitors and differentiated cells with variable efficiency. Although these experiments have brought some new insights in the understanding of CML pathophysiology, the ultimate goal of generating induced leukemic stem cells (LSCs) with long-term multilineage potential has not yet been demonstrated...
January 16, 2019: Experimental Hematology
https://read.qxmd.com/read/30658569/the-role-of-ultrasound-in-the-diagnosis-of-the-coexistence-of-primary-hyperparathyroidism-and-non-medullary-thyroid-carcinoma
#19
Jian Shen, Qiong Wu, Yan Wang
BACKGROUND: The coexistence of primary hyperparathyroidism(PHPT) and papillary thyroid cancer(PTC) is a known entity; it is a rare and complicated setting for diagnostic imaging. METHODS: After reviewing clinical data of 112 patients who had been treated for PHPT in our facility between January 2015 and December 2017, we identified 7 non-medullary thyroid carcinoma (NMTC) (6.25%). All of them had taken an ultrasound scan and undergone operation. In addition, we have also reviewed relevant reports from other facilities addressing PHPT and NMTC (Mainly PTC)...
January 18, 2019: BMC Medical Imaging
https://read.qxmd.com/read/30655777/mir-149-5p-inhibits-cell-proliferation-and-invasion-through-targeting-git1-in-medullary-thyroid-carcinoma
#20
Xiaojuan Ye, Xiaofang Chen
Previous studies indicate that miR-149 could both inhibit and promote the development of human cancer depending on the tumor type. GIT1 was found to play an important role in regulating cell migration. However, the specific function of miR-149-5p and GIT1 in the progression of medullary thyroid carcinoma (MTC) remains unknown. The purpose of this study was to confirm the function of miR-149-5p in MTC and explore its downstream regulation. Moreover, miR-149-5p level in MTC was detected via RT-quantitative PCR (RT-qPCR)...
January 2019: Oncology Letters
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