1,689 results match your criteria Medullary Thyroid Cancer and RET


The role of microRNAs in the pathogenesis of thyroid cancer.

Noncoding RNA Res 2020 Sep 20;5(3):88-98. Epub 2020 Jun 20.

Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Thyroid cancer is the most frequent type of cancers originating from the endocrine system. Early diagnosis leads to good clinical outcome in differentiated types of thyroid cancer. Yet, there are few treatment options for patients with medullary or anaplastic thyroid cancer. Read More

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http://dx.doi.org/10.1016/j.ncrna.2020.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327754PMC
September 2020

Selpercatinib: First Approval.

Authors:
Anthony Markham

Drugs 2020 Jul;80(11):1119-1124

Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Selpercatinib (RETEVMO™) is a receptor tyrosine kinase RET (rearranged during transfection) inhibitor being developed by Loxo Oncology for the treatment of cancers harbouring RET alterations. Based on results from the phase I/II LIBRETTO-001 trial, selpercatinib was recently approved by the US FDA for the treatment of RET fusion-positive non-small-cell lung cancer, RET fusion-positive thyroid cancer and RET-mutant medullary thyroid cancer. This article summarizes the milestones in the development of selpercatinib leading to this first approval. Read More

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http://dx.doi.org/10.1007/s40265-020-01343-7DOI Listing

History of the multiple endocrine neoplasia workshops and overview of MEN2019.

Endocr Relat Cancer 2020 Jun 1. Epub 2020 Jun 1.

R Gagel, Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, United States.

The multiple endocrine neoplasia (MEN) workshops had their beginnings at Queen's University in Kingston, Ontario in June, 1984. This initial meeting brought clinicians and scientists together to focus on mapping the gene for multiple endocrine neoplasia type 2 (MEN2). These efforts culminated in the identification of the RET protooncogene as the causative gene a decade later. Read More

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http://dx.doi.org/10.1530/ERC-20-0201DOI Listing

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Early thyroidectomy in multiple endocrine neoplasia: a four decade experience.

Endocr Relat Cancer 2020 Aug;27(8):T1-T8

Department of Pathology, Tufts University School of Medicine, Boston, Massachusetts, USA.

Forty years ago, physicians caring for the J-kindred, a 100+ member family with multiple endocrine neoplasia type 2A (MEN2A), hypothesized that early thyroidectomy based on measurement of the biomarker calcitonin could cure patients at risk for development of medullary thyroid carcinoma (MTC). We re-evaluated 22 family members with proven RET proto-oncogene mutations (C634G) who underwent thyroidectomy and central lymphadenectomy between 1972 and 1994 based on stimulated calcitonin abnormalities. Current disease status was evaluated by serum calcitonin measurement and neck ultrasound in 18 of the 22 prospectively screened patients. Read More

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http://dx.doi.org/10.1530/ERC-20-0108DOI Listing

Modulatory Role of Single Nucleotide Polymorphisms of Distinct Genetic Pathways on Clinical Behavior of Medullary Thyroid Carcinoma.

Asian Pac J Cancer Prev 2020 May 1;21(5):1289-1293. Epub 2020 May 1.

Sarin Lab, Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, India.

Background: Role of RET proto-oncogene as predisposing gene for Medullary Thyroid Carcinoma is well established which provides the basis for clinical management of patients. However clinical behavior of MTC varies considerably among patients. Several studies have investigated whether SNPs in low penetrance genes could modulate the clinical behavior of MTC but with conflicting or inconclusive results. Read More

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http://dx.doi.org/10.31557/APJCP.2020.21.5.1289DOI Listing
May 2020
1.500 Impact Factor

YAP confers resistance to vandetanib in medullary thyroid cancer.

Biochem Cell Biol 2020 Jun 25;98(3):443-448. Epub 2020 May 25.

Department of General Surgery, Jiaxing Maternity and Child Health Care Hospital, No. 2468 Central East Road, Nanhu District, Jiaxing 314000, Zhejiang, China.

Medullary thyroid cancer (MTC) is the third most common thyroid cancer. (Rearranged in Transformation) gene mutations are considered as one of the major drivers of MTC. Vandetanib suppresses RET activity, and has shown promise in clinical trials. Read More

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http://dx.doi.org/10.1139/bcb-2019-0354DOI Listing

Foundation One Genomic Interrogation of Thyroid Cancers in Patients With Metastatic Disease Requiring Systemic Therapy.

J Clin Endocrinol Metab 2020 Jul;105(7)

Division of Endocrinology, Metabolism and Lipid Research, Washington University, School of Medicine, St Louis, Missouri.

Context: Clinical applications of genomic assessment of thyroid cancers are rapidly evolving.

Objectives, Design, And Setting: We studied tumor samples from patients with imminently threatening and rare thyroid cancers to identify genomic alterations that might correlate with outcomes and/or be productively therapeutically targetable.

Patient Context: Progressive and metastatic, and/or rare, thyroid cancers were studied, 2012 to 2016, at Mayo Clinic sites. Read More

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http://dx.doi.org/10.1210/clinem/dgaa246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263749PMC

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Endocrine 2020 May 10. Epub 2020 May 10.

Department of Endocrinology, Aix-Marseille University, INSERM U1251, Endo-ERN Reference Center for Rare Genetic Tumor Syndromes, Assistance Publique-Hopitaux de Marseille, Marseille, France.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid carcinoma (MTC) in almost 100% cases, and pheochromocytoma in roughly 50% (primary hyperparathyroidism can be seen in 10-20% of patients with MEN2A). Early thyroidectomy and the efficacy of novel tyrosine kinase inhibitors modified the natural history of MTC, with possibilities of cure or long-term control. The second main compound, pheochromocytoma, is reported with a variable penetrance, from 10 to 80% cases, depending on the mutation of RET. Read More

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http://dx.doi.org/10.1007/s12020-020-02332-2DOI Listing

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocr Connect 2020 Jun;9(6):489-497

Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.

Objective: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases. Read More

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http://dx.doi.org/10.1530/EC-20-0163DOI Listing

Update on the Treatment of Medullary Thyroid Carcinoma in Patients with Multiple Endocrine Neoplasia Type 2.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.

Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine cancer that accounts for 1-2% of thyroid cancers in the United States (U.S.). Read More

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http://dx.doi.org/10.1055/a-1145-8479DOI Listing

Identifying novel oncogenic mutations and characterising their sensitivity to RET-specific inhibitors.

J Med Genet 2020 Apr 13. Epub 2020 Apr 13.

Internal Medicine-Oncology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China

Background: Rearranged during transfection () is a well-known proto-oncogene. Multiple oncogenic alterations have been identified, including fusions and mutations. Although fusions have been reported in multiple cancers, mutations were mainly found in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106546DOI Listing

A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer.

Case Rep Endocrinol 2020 10;2020:7641940. Epub 2020 Mar 10.

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, TX, USA.

We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common mutations but did harbor a V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. Read More

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http://dx.doi.org/10.1155/2020/7641940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085839PMC

Update on Fundamental Mechanisms of Thyroid Cancer.

Front Endocrinol (Lausanne) 2020 13;11:102. Epub 2020 Mar 13.

Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.

The incidence of thyroid cancer (TC) has increased worldwide over the past four decades. TC is divided into three main histological types: differentiated (papillary and follicular TC), undifferentiated (poorly differentiated and anaplastic TC), and medullary TC, arising from TC cells. This review discusses the molecular mechanisms associated to the pathogenesis of different types of TC and their clinical relevance. Read More

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http://dx.doi.org/10.3389/fendo.2020.00102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082927PMC

Polymorphisms Within the Proto-Oncogene and Risk of Sporadic Medullary Thyroid Carcinoma.

Thyroid 2020 May 5. Epub 2020 May 5.

Endocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Cisanello, Pisa, Italy.

Sporadic medullary thyroid carcinoma (sMTC) is an uncommon neoplasia arising from the calcitonin-producing parafollicular cells of the thyroid. Previous studies evaluated whether single nucleotide polymorphisms (SNPs) within (a pivotal proto-oncogene for this disease) are associated with the risk for developing sMTC, but the results are inconclusive. In this work, we evaluated the association of -SNPs c. Read More

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http://dx.doi.org/10.1089/thy.2019.0352DOI Listing

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both and Germline Mutations.

J Endocr Soc 2020 Apr 18;4(4):bvaa020. Epub 2020 Feb 18.

Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel loss-of-function mutation, c0. Read More

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http://dx.doi.org/10.1210/jendso/bvaa020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549PMC

Germline variants underlie a subset of paediatric osteosarcoma.

J Med Genet 2020 Mar 16. Epub 2020 Mar 16.

Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.

Background: Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.

Methods And Results: We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenic mutation developed an osteosarcoma 2 years after the resection of a medullary thyroid carcinoma. Sequencing analysis of additional 336 patients with osteosarcoma led to the identification of germline activating mutations in the proto-oncogene in three cases and somatic amplifications of the gene locus in five matched tumours (4%, n=5/124 tumours). Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106734DOI Listing

A Novel Risk Stratification System for Thyroid Nodules With Indeterminate Cytology-A Pilot Cohort Study.

Front Endocrinol (Lausanne) 2020 18;11:53. Epub 2020 Feb 18.

National Institutes of Health/National Institute of Diabetes and Digestive and Kidney Diseases (NIH/NIDDK), Bethesda, MD, United States.

Thyroid ultrasound (US), fine needle aspiration biopsy (FNAB), and molecular testing have been widely used to stratify the risk of malignancy in thyroid nodules. The goal of this study was to investigate a novel diagnostic approach for cytologically indeterminate thyroid nodules (ITN) based upon a combination of US features and genetic alterations. We performed a pilot cohort study of patients with ITN (Bethesda III/IV), who underwent surgical treatment. Read More

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http://dx.doi.org/10.3389/fendo.2020.00053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040241PMC
February 2020

Advances in Targeting RET-Dependent Cancers.

Cancer Discov 2020 Apr 24;10(4):498-505. Epub 2020 Feb 24.

Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas.

alterations have been characterized as oncogenic drivers in multiple cancers. The clinical validation of highly selective RET inhibitors demonstrates the utility of specific targeting of aberrantly activated RET in patients with cancers such as medullary thyroid cancer or non-small cell lung cancer. The remarkable responses observed have opened the field of RET-targeted inhibitors. Read More

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http://dx.doi.org/10.1158/2159-8290.CD-19-1116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125013PMC

State-of-the-Art Strategies for Targeting -Dependent Cancers.

J Clin Oncol 2020 Apr 21;38(11):1209-1221. Epub 2020 Feb 21.

Department of Investigational Cancer Therapy, The University of Texas MD Anderson Cancer Center, Houston, TX.

Activating receptor tyrosine kinase RET (rarranged during transfection) gene alterations have been identified as oncogenic in multiple malignancies. RET gene rearrangements retaining the kinase domain are oncogenic drivers in papillary thyroid cancer, non-small-cell lung cancer, and multiple other cancers. Activating RET mutations are associated with different phenotypes of multiple endocrine neoplasia type 2 as well as sporadic medullary thyroid cancer. Read More

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http://dx.doi.org/10.1200/JCO.19.02551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145587PMC

Clinical and Translational Challenges in Thyroid Cancers

Curr Med Chem 2020 02 14. Epub 2020 Feb 14.

Medical Oncology Department. Gastrointestinal and Endocrine Tumor Unit Vall d´Hebron University Hospital Vall Hebron Institute of Oncology (VHIO) Pg Vall d´Hebron 119-129 08035 Barcelona . Spain.

Thyroid cancer is the most common endocrine malignancy and it accounts for 1% of all newly diagnosed tumors. Approximately 10% of patients with differentiated thyroid carcinomas (DTC) and 30% with medullary thyroid carcinoma (MTC) will not be cured with locoregional treatment and will develop metastatic disease. In addition, one of the most aggressive solid tumors can arise from the thyroid gland, the anaplastic thyroid carcinoma, with a median overall survival of less than 6 months. Read More

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http://dx.doi.org/10.2174/0929867327666200214125712DOI Listing
February 2020

Updates on the Management of Thyroid Cancer.

Horm Metab Res 2020 Feb 10. Epub 2020 Feb 10.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, MD, USA.

The diagnostic modalities, stratification tools, and treatment options for patients with thyroid cancer have rapidly evolved since the development of the American Thyroid Association (ATA) guidelines in 2015. This review compiles newer concepts in diagnosis, stratification tools and treatment options for patients with differentiated thyroid cancer (DTC), medullary thyroid carcinoma (MTC) and anaplastic thyroid cancer (ATC). Newer developments apply precision medicine in thyroid cancer patients to avoid over-treatment in low risk disease and under-treatment in high risk disease. Read More

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http://dx.doi.org/10.1055/a-1089-7870DOI Listing
February 2020

Genomic and Transcriptomic Characterization of Sporadic Medullary Thyroid Carcinoma.

Thyroid 2020 Mar 12. Epub 2020 Mar 12.

Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, P.R. China.

Sporadic medullary thyroid carcinoma (MTC) is a relatively uncommon neuroendocrine malignancy and the molecular tumorigenesis of its sporadic type (sMTC) is only partially understood. In this study, we performed a study focusing on the genomic and transcriptomic characterization of sMTC. Twenty-nine sMTC patients were included. Read More

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http://dx.doi.org/10.1089/thy.2019.0531DOI Listing

RET Solvent Front Mutations Mediate Acquired Resistance to Selective RET Inhibition in RET-Driven Malignancies.

J Thorac Oncol 2020 Apr 24;15(4):541-549. Epub 2020 Jan 24.

Loxo Oncology, Inc., Stamford, Connecticut.

Introduction: Novel rearranged in transfection (RET)-specific tyrosine kinase inhibitors (TKIs) such as selpercatinib (LOXO-292) have shown unprecedented efficacy in tumors positive for RET fusions or mutations, notably RET fusion-positive NSCLC and RET-mutated medullary thyroid cancer (MTC). However, the mechanisms of resistance to these agents have not yet been described.

Methods: Analysis was performed of circulating tumor DNA and tissue in patients with RET fusion-positive NSCLC and RET-mutation positive MTC who developed disease progression after an initial response to selpercatinib. Read More

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http://dx.doi.org/10.1016/j.jtho.2020.01.006DOI Listing

Revisiting the genotype-phenotype correlation in children with medullary thyroid carcinoma: A report from the GPOH-MET registry.

Pediatr Blood Cancer 2020 04 11;67(4):e28171. Epub 2020 Jan 11.

Pediatric Oncology Department, Otto von Guericke University Children´s Hospital, Magdeburg, Germany.

Background: Medullary thyroid carcinomas (MTC) account for 3% to 5% of all thyroid cancers. In most cases, MTC is hereditary and occurs as part of the multiple endocrine neoplasia (MEN) type 2A and 2B syndromes. There is a strong genotype-phenotype correlation associated with the respective RET mutations, making risk-adapted management possible. Read More

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http://dx.doi.org/10.1002/pbc.28171DOI Listing

Objective Response and Prolonged Disease Control of Advanced Adrenocortical Carcinoma with Cabozantinib.

J Clin Endocrinol Metab 2020 May;105(5)

Dept. of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, University of Würzburg, Germany.

Background: Objective response of advanced adrenocortical carcinoma (ACC) to mitotane and cytotoxic chemotherapy regimen is only ~20% and early tumor progression is frequent. Previous clinical trials with oral multikinase inhibitors were negative, which has been attributed in part to inadvertent drug interaction with mitotane. Cabozantinib (CABO) is an inhibitor of c-MET, vascular endothelial growth factor receptor 2, AXL, and RET and approved for advanced kidney cancer, liver carcinoma after previous sorafenib, and medullary thyroid carcinoma. Read More

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http://dx.doi.org/10.1210/clinem/dgz318DOI Listing

A primer on the genetics of medullary thyroid cancer.

Curr Oncol 2019 12 1;26(6):389-394. Epub 2019 Dec 1.

Endocrine Oncology Site Group, Princess Margaret Cancer Centre, Toronto, ON.

Medullary thyroid cancer is a rare type of neuroendocrine tumour that arises from the parafollicular cells (C cells) of the thyroid gland. It accounts for 3%-5% of thyroid cancer cases. Close to 25% of cases are familial, and 75% are considered sporadic. Read More

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http://dx.doi.org/10.3747/co.26.5553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927790PMC
December 2019

The role of postoperative adjuvant radiotherapy in the local control in medullary thyroid carcinoma.

Endocr Connect 2019 Nov 1. Epub 2019 Nov 1.

B Jarzab, Nuclear Medicine and Endocrine Oncology Department, M.Sklodowska-Curie Institute - Oncology Center, Gliwice Branch, Gliwice, Poland.

Background: The value of postoperative radiotherapy in the treatment of medullary thyroid carcinoma (MTC) has not been unequivocally demonstrated. Therefore our study aimed to answer the question of whether adjuvant radiotherapy showed any impact on the risk of local recurrence and whether there were any differences in response to radiotherapy between hereditary and sporadic MTC.

Methods: A retrospective analysis involved 254 MTC patients, among them 73 patients with a hereditary disease. Read More

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http://dx.doi.org/10.1530/EC-19-0387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933828PMC
November 2019

Concomitant medullary thyroid carcinoma with paraganglioma-like pattern and papillary thyroid carcinoma.

Endocrinol Diabetes Metab Case Rep 2019 Nov 28;2019. Epub 2019 Nov 28.

Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Ospedale Civile di Baggiovara, Modena, Italy.

Summary: A 74-year-old man was referred to the Endocrinology Unit because of multinodular goiter. The dominant nodule (1.7 × 1. Read More

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http://dx.doi.org/10.1530/EDM-19-0094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893314PMC
November 2019

Salinomycin and its derivatives as potent RET transcriptional inhibitors for the treatment of medullary thyroid carcinoma.

Int J Oncol 2020 Jan 20;56(1):348-358. Epub 2019 Nov 20.

Department of Pharmacology and Toxicology, College of Pharmacy, University of Arizona, Tucson, AZ 85721, USA.

Rearranged during transfection kinase (RET) is a validated molecular target in medullary thyroid cancer (MTC), as activating mutations in RET are often associated with the development of MTC. The present study reports the first preclinical characterization of salinomycin and selected analogs as potent RET transcriptional inhibitors. Reverse transcription‑PCR and immunoblotting revealed that salinomycin profoundly decreased RET expression in the TT human MTC cell line by inhibiting RET transcription. Read More

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http://dx.doi.org/10.3892/ijo.2019.4916DOI Listing
January 2020

The role of molecular testing in the diagnosis of medullary thyroid cancer: A case report of oncocytic medullary thyroid carcinoma and review of the literature.

Am J Otolaryngol 2020 Jan - Feb;41(1):102312. Epub 2019 Nov 11.

Thyroid, Head, and Neck Cancer (THANC) Foundation, 10 Union Square East, Suite 5B, New York, NY 10003, USA; Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, 10 Union Square East, Suite 5B, New York, NY 10003, USA.

Background: Medullary thyroid carcinoma (MTC) is a somewhat rare, particularly aggressive form of thyroid cancer. The authors present what we believe to be the first case of MTC diagnosed solely on the basis of molecular testing, as well as a review of the literature concerning this topic and oncocytic variants of MTC.

Case Description: A 30-year-old female patient with a 1. Read More

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http://dx.doi.org/10.1016/j.amjoto.2019.102312DOI Listing

REToma: a cancer subtype with a shared driver oncogene.

Carcinogenesis 2020 Apr;41(2):123-129

Division of Genome Biology, National Cancer Center Research Institute, Tsukiji, Chuo-ku, Tokyo, Japan.

RET (REarranged during Transfection), which encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor, plays a role as driver oncogene in a variety of human cancers. Fusion of RET with several partner genes has been detected in papillary thyroid, lung, colorectal, pancreatic and breast cancers, and tyrosine kinase inhibitors (TKIs) for RET (particularly RET-specific inhibitors) show promising therapeutic effects against such cancers. Oncogenic mutations within the extracellular cysteine-rich and intracellular kinase domains of RET drive medullary thyroid carcinogenesis; the same mutations are also observed in a small subset of diverse cancers such as lung, colorectal and breast cancers. Read More

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http://dx.doi.org/10.1093/carcin/bgz184DOI Listing

Diagnosis and pathologic characteristics of medullary thyroid carcinoma-review of current guidelines.

Curr Oncol 2019 10 1;26(5):338-344. Epub 2019 Oct 1.

Department of Otolaryngology-Head and Neck Surgery, University Health Network, Toronto, ON.

Background: Medullary thyroid carcinoma (mtc) is a rare malignancy of the thyroid gland, and raising awareness of the recommended diagnostic workup and pathologic characteristics of this malignancy is therefore important.

Methods: We reviewed the current clinical practice guidelines and recent literature on mtc, and here, we summarize the recommendations for its diagnosis and workup. We also provide an overview of the pathology of mtc. Read More

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http://dx.doi.org/10.3747/co.26.5539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821118PMC
October 2019

Evaluating vandetanib in the treatment of medullary thyroid cancer: patient-reported outcomes.

Cancer Manag Res 2019 21;11:7893-7907. Epub 2019 Aug 21.

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Medullary thyroid cancers (MTCs) are neuroendocrine tumors, which secrete calcitonin and carcinoembryonic antigen, both of which can serve as tumor markers. Extensive and accurate surgical resection is the primary treatment for MTC, whereas the use of external beam radiotherapy is limited. Moreover, since MTC is derived from thyroid parafollicular cells or C cells, it is not responsive to either radioiodine or thyroid-stimulating hormone suppression, and therefore, they cannot be considered as treatment strategies. Read More

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http://dx.doi.org/10.2147/CMAR.S127848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708888PMC

Protean cytological, histological and immunohistochemical appearances of medullary thyroid carcinoma: current updates.

Rom J Morphol Embryol 2019 ;60(2):369-381

Department of Ophthalmology, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania; Department of Obstetrics and Gynecology, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania;

Medullary thyroid carcinoma (MTC) accounts for only 0.5-3% of all malignant diseases, but is responsible for more deaths every year than all the other endocrine malignancies taken together. Approximately 75-80% of MTCs occur sporadically, while the inherited forms of MTC are responsible for the rest of the cases. Read More

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April 2020
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A Novel Fusion in Pediatric Medullary Thyroid Carcinoma.

Thyroid 2019 11;29(11):1704-1707

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.

Medullary thyroid carcinoma (MTC) is most commonly associated with gene mutations. fusions have rarely been described, although not previously in pediatrics and not previously partnered with in MTC or any other cancer. A 10-year-old boy with progressive stridor was found to have metastatic MTC, including lung, lymph node, and adrenal metastases. Read More

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http://dx.doi.org/10.1089/thy.2019.0041DOI Listing
November 2019

Novel use of a Clinical Laboratory Improvements Amendments (CLIA)-certified Cyclin-Dependent Kinase N2C (CDKN2C) loss assay in sporadic medullary thyroid carcinoma.

Surgery 2020 01 21;167(1):80-86. Epub 2019 Oct 21.

Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:

Background: The cyclin-dependent-kinase inhibitor/retinoblastoma pathway has been implicated in sporadic medullary thyroid carcinoma tumorigenesis. Somatic CDKN2C loss has been associated with decreased overall survival in medullary thyroid carcinoma patients. We evaluated CDKN2C loss in a prospective clinical environment using a novel Clinical Laboratory Improvement Amendments-certified assay to confirm its association with aggressive disease and to interrogate response to targeted therapy. Read More

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http://dx.doi.org/10.1016/j.surg.2019.03.041DOI Listing
January 2020
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[New aspects in thyroid cancer treatment : Highlights of the 2019 ASCO Annual Meeting].

HNO 2019 Dec;67(12):925-930

Klinik und Poliklinik für Hals‑, Nasen- und Ohrenheilkunde, Kopf-Hals-Tumorzentrum des Universitären Cancer Center Hamburg (UCCH), Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Deutschland.

The majority of patients with thyroid cancer have a remarkably good chance of cure in the context of surgical treatment, due to their mostly local tumor spread. However, a small proportion of patients with advanced and metastatic thyroid tumors usually require multimodality treatment. Abstracts from the 2019 American Society of Clinical Oncology (ASCO) Annual Meeting are summarized in this review, to provide insights into current aspects of thyroid carcinoma treatment. Read More

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http://dx.doi.org/10.1007/s00106-019-00764-5DOI Listing
December 2019
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Medullary thyroid carcinoma with double negative calcitonin and CEA: a case report and update of literature review.

BMC Endocr Disord 2019 Oct 16;19(1):103. Epub 2019 Oct 16.

Division of Thyroid Surgery - Department of Medical and Advanced Surgical Sciences, University of Campania "Luigi Vanvitelli", School of Medicine, Via Sergio Pansini, 5, 80131, Naples, Italy.

Background: Medullary thyroid carcinoma is a malignant uncommon and aggressive tumour of the parafollicular C cells. In about 75% of cases it is sporadic while, in case of RET mutation, it is associated to multiple endocrine neoplasia type 2 (25% of cases). The biochemical features of medullary thyroid carcinoma include the production of calcitonin and carcinoembryogenic antigen. Read More

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http://dx.doi.org/10.1186/s12902-019-0435-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794852PMC
October 2019
1 Read

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

iScience 2019 Oct 26;20:324-336. Epub 2019 Sep 26.

Unit of Endocrinology, Department of Clinical and Experimental Medicine, University-Hospital of Pisa, Pisa 56124 Italy.

Sporadic Medullary Thyroid Carcinoma (sMTC) is a rare but aggressive thyroid tumor. RET and RAS genes are present in about 50%-80% of cases, but most of the remaining cases are still orphan of a genetic driver. We studied the largest series of sMTC by deep sequencing to define the mutational landscape. Read More

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http://dx.doi.org/10.1016/j.isci.2019.09.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817656PMC
October 2019
1 Read

Long-Term Oncologic Outcomes After Curative Resection of Familial Medullary Thyroid Carcinoma.

Ann Surg Oncol 2019 Dec 23;26(13):4423-4429. Epub 2019 Sep 23.

Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Introduction: Long-term outcomes after curative resection in patients with germline RET mutations and medullary thyroid cancer (MTC) are highly variable and mutation-specific oncologic outcomes are not well-described.

Methods: Sixty-six patients identified from 1986 to 2017 from a single-institution cancer database were assessed for recurrence and survival using Kaplan-Meier estimates, and correlated with clinicopathologic features using log-rank or Cox proportional hazards.

Results: Median follow-up was 9. Read More

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http://dx.doi.org/10.1245/s10434-019-07869-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876629PMC
December 2019
1 Read

EVOLUTION OF TARGETED THERAPIES FOR THYROID CARCINOMA.

Authors:
Steven I Sherman

Trans Am Clin Climatol Assoc 2019 ;130:255-265

HOUSTON, TEXAS.

Although treatment options for patients with advanced and metastatic thyroid carcinoma were historically limited, developments in the past 15 years in understanding the pathogenesis of these malignancies have permitted identification of novel targeted therapies to improve outcomes. Five individual drugs and one combination therapy have achieved regulatory approval since 2011, all showing improvements in progression-free survival or high response rates. More selective targeting of mutated oncogenic kinases is leading to increasing efficacy with fewer toxicities, at least in early human trials. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736004PMC
February 2020

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes (Basel) 2019 09 10;10(9). Epub 2019 Sep 10.

Department of Clinical and Experimental Medicine, Unit of Endocrinology University of Pisa, 56124 Pisa, Italy.

Background: Pathogenic germline mutations affecting the proto-oncogene underlie the development of hereditary medullary thyroid carcinoma (MTC). The aims of this study were to evaluate the prevalence of germline mutations in a large series of MTC, collected over the last 25 years, and to reappraise their clinical significance.

Methods: We performed genetic screening in 2031 Italian subjects: patients who presented with sporadic (n = 1264) or hereditary (n = 117) MTC, plus 650 relatives. Read More

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http://dx.doi.org/10.3390/genes10090698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771015PMC
September 2019
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RET Proto-oncogene Gene Mutation Is Related to Cervical Lymph Node Metastasis in Medullary Thyroid Carcinoma.

Endocr Pathol 2019 Dec;30(4):297-304

Department of Thyroid Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, China.

RET proto-oncogene (RET) mutations were proved to be related to the development of medullary thyroid carcinoma (MTC). We aimed to analyze the role of RET mutations in cervical lymph node metastasis in patients with MTC. Forty-nine patients with preoperatively diagnosed MTC by fine-needle aspiration cytology (FNAC) who underwent bilateral total thyroidectomy with cervical lymphadenectomy were included. Read More

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http://dx.doi.org/10.1007/s12022-019-09588-zDOI Listing
December 2019
2 Reads

Current surgical management in RET mutation carriers [Aktualne postępowanie chirurgiczne u nosicieli mutacji proto-onkogenu RET].

Endokrynol Pol 2019 ;70(4):367-379

Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Centre Gliwice Branch, Gliwice, Poland.

Medullary thyroid carcinoma (MTC) still remains a rare endocrine tumor. 20-25% of MTC cases are genetically determined. The detection of the RET proto-oncogene mutation in 1993 allowed to understand the unique genotype-phenotype relationships in hereditary medullary thyroid carcinoma (HMTC) and formed the basis for therapeutic decisions based on the molecular results. Read More

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http://dx.doi.org/10.5603/EP.a2019.0021DOI Listing
February 2020
1 Read

Genetic analysis of a hereditary medullary thyroid carcinoma case with normal preoperative serum calcitonin levels.

Pathol Res Pract 2019 Oct 29;215(10):152529. Epub 2019 Jul 29.

Department of Breast and Thyroid Surgery, Daping Hospital, Army Military Medical University, Chongqing, 400042, China. Electronic address:

Context: Serum calcitonin is often elevated in medulla thyroid carcinoma (MTC) and thus serves as an indicator of primary and recurrent disease. However, there are MTC patients with normal Serum calcitonin and the underlying mechanisms are largely unknown.

Case Description: A 48-year-old female patient presenting with a right anterior cervical mass was diagnosed with medullary carcinoma. Read More

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http://dx.doi.org/10.1016/j.prp.2019.152529DOI Listing
October 2019
3 Reads
1.562 Impact Factor

Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Med 2019 10 13;8(13):6151-6161. Epub 2019 Aug 13.

Sarin Lab, Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Navi Mumbai, India.

Background: Medullary thyroid carcinoma (MTC) is a rare subtype of thyroid cancer. Other than gain-of-function RET mutations, no other genetic, lifestyle or environmental risk associations have been established for MTC. Several case-control studies and meta-analysis have examined the risk association of different SNPs with MTC in different populations but with contradictory or inconclusive results. Read More

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http://dx.doi.org/10.1002/cam4.2443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792509PMC
October 2019
3 Reads

S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Thyroid 2019 10 11;29(10):1447-1456. Epub 2019 Sep 11.

Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou, China.

Inherited medullary thyroid carcinoma (MTC) is primarily caused by mutations that are commonly localized in exons 5, 8, 10, 11, and 13-16. In this study, we report pedigrees for individuals with MTC that harbor a germline S409Y variant within exon 6 of the proto-oncogene. Targeted sequencing was used to diagnose four apparently sporadic MTC index cases carrying the germline S409Y (c. Read More

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http://dx.doi.org/10.1089/thy.2018.0385DOI Listing
October 2019
9 Reads

Cofilin is a mediator of RET-promoted medullary thyroid carcinoma cell migration, invasion and proliferation.

Mol Cell Endocrinol 2019 09 25;495:110519. Epub 2019 Jul 25.

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that originates from parafollicular thyroid C cells and accounts for 5% of thyroid cancers. In inherited cases of MTC, and in about 40% of sporadic cases, activating mutations of the receptor tyrosine kinase proto-oncogene RET are found. Constitutively active RET triggers signaling pathways involved in cell proliferation, survival and motility, but the mechanisms underlying malignant transformation of C-cells have been only partially elucidated. Read More

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http://dx.doi.org/10.1016/j.mce.2019.110519DOI Listing
September 2019
1 Read

BLU-667 Controls -Altered Thyroid Cancers.

Authors:

Cancer Discov 2019 09 16;9(9):OF5. Epub 2019 Jul 16.

The experimental RET inhibitor BLU-667 appears safe and effective in patients with -altered thyroid cancers, according to findings presented at the 2019 American Society of Clinical Oncology Annual Meeting. In the phase II ARROW trial, the drug elicited responses in 56% of patients with advanced -mutated medullary thyroid cancer and five out of six patients with papillary thyroid cancer and was associated with mild side effects. Read More

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http://dx.doi.org/10.1158/2159-8290.CD-NB2019-084DOI Listing
September 2019

The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review.

Clin Endocrinol (Oxf) 2019 12 29;91(6):697-707. Epub 2019 Jul 29.

Department of Head and Neck Surgery, Royal Devon and Exeter Hospital, Exeter, UK.

Background: The significant variation in the clinical behaviour of sporadic medullary thyroid carcinoma (sMTC) causes uncertainty when planning the management of these patients. Several tumour genetic and epigenetic markers have been described, but their clinical usefulness remains unclear. The aim of this review was to evaluate the evidence for the use of molecular genetic and epigenetic profiles in the risk stratification and management of sMTC. Read More

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http://dx.doi.org/10.1111/cen.14060DOI Listing
December 2019
17 Reads
3.457 Impact Factor