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https://www.readbyqxmd.com/read/30321177/a-synonymous-ret-substitution-enhances-the-oncogenic-effect-of-an-in-cis-missense-mutation-by-increasing-constitutive-splicing-efficiency
#1
Valeria Pecce, Marialuisa Sponziello, Giuseppe Damante, Francesca Rosignolo, Cosimo Durante, Livia Lamartina, Giorgio Grani, Diego Russo, Cira Rosaria di Gioia, Sebastiano Filetti, Antonella Verrienti
Synonymous mutations continue to be filtered out from most large-scale cancer genome studies, but several lines of evidence suggest they can play driver roles in neoplastic disease. We investigated a case of an aggressive, apparently sporadic medullary thyroid carcinoma (MTC) harboring a somatic RET p.Cys634Arg mutation (a known MTC driver). A germ-line RET substitution (p.Cys630=) had also been found but was considered clinically irrelevant because of its synonymous nature. Next generation sequencing (NGS) of the tumor tissues revealed that the RET mutations were in cis...
October 15, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/30314660/multiple-endocrine-neoplasia-type-2b-presents-early-in-childhood-but-often-is-undiagnosed-for-years
#2
Angeliki Makri, Srivandana Akshintala, Claudia Derse-Anthony, Brigitte Widemann, Constantine A Stratakis, John Glod, Maya Lodish
We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.
October 9, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/30306375/medullary-thyroid-carcinoma-do-ultrasonography-and-f-dopa-pet-ct-influence-the-initial-surgical-strategy
#3
Lindsay Brammen, Martin B Niederle, Philipp Riss, Christian Scheuba, Andreas Selberherr, Georgios Karanikas, Gerd Bodner, Oskar Koperek, Bruno Niederle
BACKGROUND: At the time of diagnosis, one-third of medullary thyroid carcinoma (MTC) patients show lymph node (LN) or distant metastasis. A metastasized MTC requires different surgical strategies. OBJECTIVE: This study aimed to determine the value of ultrasound and [18F]fluoro-dihydroxyphenylalanine positron emission tomography with computed tomography (F-DOPA-PET-CT) in localizing MTC, as well as LN and distant metastasis. METHODS: The study included 50 patients (24 males/26 females) with preoperative ultrasound, F-DOPA-PET-CT, and histologically proven MTC...
October 10, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/30303134/c-cell-hyperplasia-in-sporadic-and-familial-medullary-thyroid-carcinoma
#4
Mahima Yadav, Vinita Agrawal, Krushna Chandra Pani, Ritu Verma, Sushila Jaiswal, Anjali Mishra, Rakesh Pandey
Context: C-cell hyperplasia (CCH) is characterized by increased mass of C-cells and has been identified as a precursor condition for medullary thyroid carcinoma (MTC). Varying proportion of MTCs is associated with CCH in different studies. This could be due to the lack of uniformity of the definitions and techniques used to identify CCH in these studies. Aims: This study aims to study the occurrence, clinicopathological, and immunohistochemical features of CCH in MTC diagnosed during a 22-year period at a tertiary care center in North India and to review the available literature on CCH...
October 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/30300539/the-ret-c611y-mutation-causes-men-2a-and-associated-cutaneous
#5
Xiao-Ping Qi, Jian-Zhong Peng, Xiao-Wei Yang, Zhi-Li Zao, Xiu-Hua Yu, Xu-Dong Fang, Da-Hong Zhang, Jian-Qiang Zhao
Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back. Patient Findings: This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c...
September 1, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/30297385/phase-i-ii-trial-of-vandetanib-and-bortezomib-in-adults-with-locally-advanced-or-metastatic-medullary-thyroid-cancer
#6
Jaydira Del Rivero, Maureen Edgerly, Jean Ward, Ravi A Madan, Sanjeeve Balasubramaniam, Tito Fojo, Ann W Gramza
LESSONS LEARNED: Vandetanib at a dose of 300 mg orally every day plus bortezomib 1.3 mg/m2 intravenously on days 1, 4, 8, and 11 could be administered safely.Assessing outcomes in 17 patients with medullary thyroid cancer, investigators considered the combination to be more difficult to administer than single-agent vandetanib and that achieving better outcomes was unlikely. Consequently, a planned phase II study was terminated early. BACKGROUND: The proto-oncogene RET ( RE arranged during T ransfection) has a critical role in the pathogenesis of medullary thyroid cancer (MTC)...
October 8, 2018: Oncologist
https://www.readbyqxmd.com/read/30291013/albiglutide-and-cardiovascular-outcomes-in-patients-with-type-2-diabetes-and-cardiovascular-disease-harmony-outcomes-a-double-blind-randomised-placebo-controlled-trial
#7
Adrian F Hernandez, Jennifer B Green, Salim Janmohamed, Ralph B D'Agostino, Christopher B Granger, Nigel P Jones, Lawrence A Leiter, Anne E Rosenberg, Kristina N Sigmon, Matthew C Somerville, Karl M Thorpe, John J V McMurray, Stefano Del Prato
BACKGROUND: Glucagon-like peptide 1 receptor agonists differ in chemical structure, duration of action, and in their effects on clinical outcomes. The cardiovascular effects of once-weekly albiglutide in type 2 diabetes are unknown. We aimed to determine the safety and efficacy of albiglutide in preventing cardiovascular death, myocardial infarction, or stroke. METHODS: We did a double-blind, randomised, placebo-controlled trial in 610 sites across 28 countries...
October 1, 2018: Lancet
https://www.readbyqxmd.com/read/30288010/encapsulated-follicular-variant-of-papillary-thyroid-carcinoma-arising-in-a-follicular-adenoma-a-diagnostic-dilemma
#8
Kanika Singh, Mukta Pujani, Varsha Chauhan, Charu Agarwal, Shruti Dhingra
Papillary thyroid carcinoma (PTC) arising within follicular adenoma is a rare histological subset of papillary carcinoma. A 24-year-old female (euthyroid and asymptomatic) presented with a solitary mass in the right lobe of thyroid for 2 years. Fine-needle aspiration cytology (FNAC) suggested features of hyperplasia of thyroid. Hemithyroidectomy was performed. Histopathological examination revealed two distinct areas and was reported as encapsulated variant of papillary carcinoma along with follicular adenoma...
September 2018: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/30285217/appendix-2-medullary-thyroid-cancer-eupdate-published-online-19-february-2018-http-www-esmo-org-guidelines-endocrine-and-neuroendocrine-cancers-thyroid-cancer
#9
(no author information available yet)
No abstract text is available yet for this article.
October 1, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/30253333/circulating-tumour-dna-is-a-potential-biomarker-for-disease-progression-and-response-to-targeted-therapy-in-advanced-thyroid-cancer
#10
D M Allin, R Shaikh, P Carter, K Thway, M T A Sharabiani, D Gonzales-de-Castro, B O'Leary, I Garcia-Murillas, S Bhide, M Hubank, K Harrington, D Kim, K Newbold
BACKGROUND: Conventional biomarkers in thyroid cancer are not disease specific and fluctuate in advanced disease, making interpretation difficult. Circulating tumour DNA (ctDNA) has been shown to be a useful biomarker in other solid tumours. This is a multimutational study of ctDNA over multiple timepoints, designed to test the hypothesis that ctDNA is a potential biomarker in patients with advanced thyroid cancer. METHODS: Mutational analysis of archival tumour tissue was performed using NGS with a targeted gene panel...
September 22, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/30250940/calcifications-in-thyroid-tumors-on-ultrasonography-calcification-types-and-relationship-with-histopathological-type
#11
Kaoru Kobayashi, Tomoko Fujimoto, Hisashi Ota, Mitsuyoshi Hirokawa, Tomonori Yabuta, Hiroo Masuoka, Mitsuhiro Fukushima, Takuya Higashiyama, Minoru Kihara, Yasuhiro Ito, Akihiro Miya, Akira Miyauchi
Purpose: The purpose of the study is to clarify the prevalence of calcifications within thyroid tumors on ultrasonography as well as the relationship between the calcification and histopathological types. Materials and Methods: Calcifications were classified into 6 (or 8) types according to their shape, size, and region. The prevalence of calcifications and types were investigated in new outpatients and patients who underwent thyroid surgery. Results: Among 2,902 nodules in 2,678 new outpatients, 747 nodules (26%) had calcifications...
April 2018: Ultrasound International Open
https://www.readbyqxmd.com/read/30250937/navigating-systemic-therapy-in-advanced-thyroid-carcinoma-from-standard-of-care-to-personalized-therapy-and-beyond
#12
REVIEW
Sarika N Rao, Maria E Cabanillas
Thyroid cancer, with the exception of anaplastic thyroid cancer, typically has very favorable outcomes with the standard therapy. However, those that persist, recur, or metastasize are associated with a worse prognosis. Targeted therapy with kinase inhibitors has shown promise in advanced cases of thyroid cancer, and currently five drug regimens are approved for use in clinical practice in the treatment of differentiated, medullary, and anaplastic thyroid cancer, with more options in the pipeline. However, one of the greatest dilemmas is when and how to initiate one of these drugs, and this is discussed herein...
October 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/30237011/significance-of-neck-dissection-for-the-treatment-of-clinically-evident-medullary-thyroid-carcinomas-a-systematic-review
#13
Soon-Hyun Ahn, Eun Jae Chung
OBJECTIVE: The survival benefit of prophylactic lateral neck dissection in medullary thyroid carcinomas remains unclear; thus, recent clinical guidelines have deferred the recommendation of lateral neck dissection. This review is to assess the role of lateral neck dissection in treatment of clinically overt medullary thyroid carcinoma. METHODS: A meta-analysis was performed on full-text publications written in English sourced using Embase and Medline databases. Publications with data regarding lateral neck dissection and clinical outcome were included...
September 17, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/30231931/anlotinib-a-novel-multi-targeting-tyrosine-kinase-inhibitor-in-clinical-development
#14
REVIEW
Guoshuang Shen, Fangchao Zheng, Dengfeng Ren, Feng Du, Qiuxia Dong, Ziyi Wang, Fuxing Zhao, Raees Ahmad, Jiuda Zhao
Anlotinib is a new, orally administered tyrosine kinase inhibitor that targets vascular endothelial growth factor receptor (VEGFR), fibroblast growth factor receptor (FGFR), platelet-derived growth factor receptors (PDGFR), and c-kit. Compared to the effect of placebo, it improved both progression-free survival (PFS) and overall survival (OS) in a phase III trial in patients with advanced non-small-cell lung cancer (NSCLC), despite progression of the cancer after two lines of prior treatments. Recently, the China Food and Drug Administration (CFDA) approved single agent anlotinib as a third-line treatment for patients with advanced NSCLC...
September 19, 2018: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/30229381/spontaneous-deceleration-and-acceleration-of-growth-rate-in-medullary-thyroid-carcinomas-suggested-by-changes-in-calcitonin-doubling-times-over-long-term-surveillance
#15
Akira Miyauchi, Takumi Kudo, Minoru Kihara, Hitomi Oda, Yasuhiro Ito, Akihiro Miya
BACKGROUND: Based on our long-term observation of medullary thyroid carcinoma (MTC) patients, we hypothesized that some MTCs have spontaneous deceleration or regression of tumor growth over a long term and that a minority may acquire growth acceleration. We thus compared the calcitonin doubling time (Ct-DT) in the earlier and later half-periods of MTC patients' postoperative course. METHODS: We followed 26 MTC patients (14 hereditary and 12 sporadic MTCs) with postoperative hypercalcitoninemia with periodic measurements of serum calcitonin (Ct) for >10 years without major interventions...
September 18, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/30223887/carcinoembryonic-antigen-levels-correlated-with-advanced-disease-in-medullary-thyroid-cancer
#16
Sena Turkdogan, Véronique-Isabelle Forest, Michael P Hier, Michael Tamilia, Anca Florea, Richard J Payne
BACKGROUND: Medullary thyroid cancer (MTC) cells are capable of secreting various tumor markers including calcitonin and carcinoembyronic antigen (CEA). The purpose of this study is to determine whether abnormal CEA levels may be used as a tumor marker to predict the severity of disease in MTC. METHODS: A retrospective analysis was completed for 33 patients with MTC who had preoperative serum CEA levels. Univariate and multivariate analyses were used to quantify the relationship between serum CEA levels and tumor stage and prognosis...
September 17, 2018: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/30215224/laboratory-testing-in-thyroid-conditions-pitfalls-and-clinical-utility
#17
REVIEW
Shui Boon Soh, Tar Choon Aw
Thyroid disorders are common, affecting more than 10% of people in the US, and laboratory tests are integral in the management of these conditions. The repertoire of thyroid tests includes blood tests for thyroid-stimulating hormone (TSH), free thyroxine, free triiodothyronine, thyroglobulin (Tg), thyroglobulin antibodies (Tg-Ab), thyroid peroxidase antibodies (TPO-Ab), TSH receptor antibodies (TRAb), and calcitonin. TSH and free thyroid hormone tests are frequently used to assess the functional status of the thyroid...
January 2019: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/30209893/clinicopathological-characteristics-and-prognosis-of-thyroid-cancer-in-northwest-china-a-population-based-retrospective-study-of-2490-patients
#18
Meiling Huang, Changjiao Yan, Hongliang Wei, Yonggang Lv, Rui Ling
BACKGROUND: The specific clinical features of thyroid cancer patients in northwest China are unclear; therefore, we analyzed the clinicopathological characteristics and prognosis of this population. METHODS: Clinical characteristics including age, gender, blood type, histological type, and BRAFV600E gene mutation; and incidence; risk factors; surgical treatment; and prognosis were recorded. RESULTS: A total of 2490 thyroid cancer patients were included; 98% were diagnosed with papillary thyroid cancer (PTC)...
September 12, 2018: Thoracic Cancer
https://www.readbyqxmd.com/read/30197462/optical-biopsy-of-head-and-neck-cancer-using-hyperspectral-imaging-and-convolutional-neural-networks
#19
Martin Halicek, James V Little, Xu Wang, Mihir Patel, Christopher C Griffith, Mark W El-Deiry, Amy Y Chen, Baowei Fei
Successful outcomes of surgical cancer resection necessitate negative, cancer-free surgical margins. Currently, tissue samples are sent to pathology for diagnostic confirmation. Hyperspectral imaging (HSI) is an emerging, non-contact optical imaging technique. A reliable optical method could serve to diagnose and biopsy specimens in real-time. Using convolutional neural networks (CNNs) as a tissue classifier, we developed a method to use HSI to perform an optical biopsy of ex-vivo surgical specimens, collected from 21 patients undergoing surgical cancer resection...
January 2018: Proceedings of SPIE
https://www.readbyqxmd.com/read/30186966/staged-thyroidectomy-a-single-institution-perspective
#20
Che-Wei Wu, Hui Sun, Guang Zhang, Hoon Yub Kim, Antonina Catalfamo, Mattia Portinari, Paolo Carcoforo, Gregory W Randolph, Young Jun Chai, Gianlorenzo Dionigi
Background: The increasing use of intraoperative neuromonitoring (IONM) in thyroid surgery has revealed the need to develop new strategies for cases in which a loss of signal (LOS) occurs on the first side of a planned total thyroidectomy. Objectives: This study reviews the experience of the authors in using IONM for planned total thyroidectomy after LOS on the first thyroid lobe. The aims were to estimate the incidence of LOS on the first side of resection and to compare intraoperative strategies applied after this event...
August 2018: Laryngoscope Investigative Otolaryngology
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