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JOURNAL ARTICLE
Yixuan Hu, Zhuojun Han, Honghao Guo, Ning Zhang, Na Shen, Yujia Jiang, Tao Huang
Familial non-medullary thyroid carcinoma (FNMTC) accounts for 3% to 9% of all thyroid cancer cases, yet its genetic mechanisms remain unknown. Our study aimed to screen and identify novel susceptibility genes for FNMTC. Whole-exome sequencing (WES) was conducted on a confirmed FNMTC pedigree, comprising four affected individuals across two generations. Variants were filtered and analyzed using ExAC and 1000 Genomes Project, with candidate gene pathogenicity predicted using SIFT, PolyPhen, and MutationTaster...
January 22, 2024: Biomedicines
#2
JOURNAL ARTICLE
Matti L Gild, Shejil Kumar, Talia L Fuchs, Anthony Glover, Stan Sidhu, Mark Sywak, Venessa Tsang, Anthony J Gill, Bruce G Robinson, Geoffrey Schembri, Roderick J Clifton-Bligh, Jeremy Hoang
OBJECTIVE: Somatostatin receptor (SST) functional imaging with positron emission tomography (PET)/computed tomography (CT) has broadened the diagnostic and staging capabilities for medullary thyroid cancer (MTC). Gallium-68 (68 Ga)-DOTA-conjugated peptide (Tyr3)-octreotate (DOTATATE) is a radiotracer with a high affinity for type 2 SSTs expressed in several, but not all, MTCs. The utility of 68 Ga-DOTATATE PET/CT and 18 fluorine-labeled fluoro-2-deoxy-D-glucose (18 F-FDG)-PET/CT imaging in predicting MTC prognosis is also unknown...
December 14, 2023: Endocrine Practice
#3
Ç Keskin, A G Canpolat, Ş Canlar, A B Bahçecioğlu Mutlu, M F Erdoğan
BACKGROUND: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare hereditary syndrome caused mainly by Met918Thr germline RET mutation and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), and typical phenotypic features. MEN 2B cases previously reported in the literature have variable clinical course. OBJECTIVES: We aimed to discuss the characteristics of four MEN 2B cases with unusual presentations,clinical course and review the recent clinical data on MEN2B...
2023: Acta endocrinologica: the international journal of the Romanian Society of Endocrinology
#4
JOURNAL ARTICLE
Chunying Peng, Katrin Rabold, Mihai G Netea, Martin Jaeger, Romana T Netea-Maier
Lenvatinib is a multitarget tyrosine kinase inhibitor (TKI) approved for the treatment of several types of cancers, including metastatic differentiated thyroid cancer (DTC). The intended targets include VEGFR 1-3, FGFR 1-4, PDGFRα, RET, and KIT signaling pathways, but drug resistance inevitably develops and a complete cure is very rare. Recent data has revealed that most of the TKIs have additional 'off-target' immunological effects, which might contribute to a protective antitumor immune response; however, human cellular data are lacking regarding Lenvatinib-mediated immunomodulation in DTC...
January 26, 2023: Pharmaceutics
#5
JOURNAL ARTICLE
Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Morten Møller Poulsen, Filipe G Vieira, Jes Sloth Mathiesen, Maria Rossing
Activating variants in the receptor tyrosine kinase RE arranged during T ransfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). The presence of a pheochromocytoma in one of the patients, suggested a possible pathogenic role of the variant in MEN 2A. Here, we present clinical follow up of a Danish RET Leu56Met cohort...
2021: Frontiers in Endocrinology
#6
JOURNAL ARTICLE
Ananth Shankar, Tom Kurzawinski, Emma Ross, Sara Stoneham, Tim Beale, Ian Proctor, Tony Hulse, Kate Simpson, Mark N Gaze, Elene Cattaneo, Evelien Gevers, Lynley Marshall, Johnathan G Hubbard, Caroline Brain
BACKGROUND: Medullary thyroid carcinoma (MTC) in the context of multiple endocrine neoplasia type 2 (MEN2) is caused by mutations in the RET proto-oncogene. Therefore, in children with MEN2 and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor. PATIENTS AND METHODS: A retrospective review of the clinical, genetic, biochemical (calcitonin and carcinoembryonic antigen [CEA]) and imaging data of six medically untreated children with MEN2 and recurrent and or progressive MTC...
October 11, 2021: European Journal of Cancer
#7
REVIEW
Ali S Alzahrani, Meshael Alswailem, Balgees Alghamdi, Rafiullah Rafiullah, Mohammed Aldawish, Hindi Al-Hindi
CONTEXT: RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation. We describe a family incidentally discovered to have this mutation and review the literature on RET p.V804M mutation. RESULTS: The proband was born to first-degree relative parents. He was noticed to have hypertrophy of some parts of the body and vascular skin changes...
February 2022: Endocrine
#8
JOURNAL ARTICLE
Swapnil P Bhujbal, Seketoulie Keretsu, Seung Joo Cho
RET (rearranged during transfection) kinase, one of the receptor tyrosine kinases, plays a crucial role in the development of the human nervous system. It is also involved in various cell signaling networks responsible for the normal cell division, growth, migration, and survival. Previously reported clinical studies revealed that deregulation or aberrant activation of RET signaling can cause several types of human cancer. For example, medullary thyroid carcinoma (MTC) and multiple endocrine neoplasia (MEN2A, MEN2B) occur due to sporadic mutation or germline RET mutation...
January 28, 2021: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
#9
Roopa Vijayan, Vasantha Nair, Usha Menon, Harish Kumar
Familial medullary thyroid carcinoma (FMTC) is a variant of multiple endocrine neoplasia type 2 (MEN2) associated with the RET gene mutation. We report a rare RET mutation of c.2671T>G; p.Ser891Ala in Exon 15 of the RET gene in an Indian pedigree where seven family members out of 14 screened were found to be positive for the same. RET genetic analysis should be considered as an early approach in the diagnosis of medullary thyroid carcinoma (MTC) since it improves the prognosis and permits surveillance of other family members...
January 2021: Indian Journal of Cancer
#10
REVIEW
Nicholas Mastronikolis, Evangelos Tsiambas, Dimitrios Roukas, Panagiotis Fotiades, Aristeidis Chrysovergis, Vasileios Papanikolaou, Efthymios Kyrodimos, Sofianiki Mastronikoli, Athanasios Niotis, Vasileios Ragos
Among biomarkers that should be useful for a molecular discrimination of patients regarding treatment strategies and prognosis in solid malignancies, novel micro-RNAs (miRs) are under investigation. Quite recently, miRs are considered very promising and significant genetic markers for categorizing patients by their molecular characteristics, as well as extending their complicated genetic signatures. miRs are short, non-coding RNAs consisting of 20-25 nucleotides located at intra- or inter-gene regions. Functional miRs mediate a positive regulation of posttranscriptional gene silencing...
September 2020: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
#11
JOURNAL ARTICLE
E Giardino, R Catalano, F Mangili, A M Barbieri, D Treppiedi, F M Elli, A Dolci, A Contarino, A Spada, M Arosio, G Mantovani, E Peverelli
Medullary thyroid carcinoma (MTC) is a rare neuroendocrine neoplasm of the parafollicular thyroid C cells. Although somatostatin receptors are expressed by MTCs, treatment with octreotide has shown poor efficacy, whereas recently pasireotide has demonstrated antiproliferative effects in persistent postoperative MTCs. Aim of this study was to test the effects of octreotide and pasireotide on MTC cells proliferation, cell cycle proteins expression, MAPK activation, apoptosis, calcitonin secretion, migration and invasion in TT cell line as well as in primary MTC cultured cells...
January 15, 2021: Molecular and Cellular Endocrinology
#12
JOURNAL ARTICLE
Viktor Sandblom, Johan Spetz, Emman Shubbar, Mikael Montelius, Ingun Ståhl, John Swanpalmer, Ola Nilsson, Eva Forssell-Aronsson
Since patients with medullary thyroid cancer (MTC) often have metastatic disease at the time of diagnosis, the development of efficient systemic treatment options for MTC is important. Vandetanib and cabozantinib are two tyrosine kinase inhibitors (TKIs) that were recently approved by FDA and EMA for systemic treatment of metastatic MTC. Additionally, since MTC is of a neuroendocrine tumour type, treatment with radiolabelled somatostatin analogues (e.g. 177Lu-octreotate) is a valid option for patients with MTC...
2020: PloS One
#13
REVIEW
Abel Decmann, Attila Patócs, Peter Igaz
In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary hyperparathyroidism, and neuroendocrine tumors. McCune-Albright syndrome that only exists in non-hereditary, sporadic forms is also discussed in detail, as tumors of several endocrine organs can develop in the same individual...
2019: Experientia. Supplementum
#14
Balázs Sarkadi, Kornélia Baghy, Zoltán Sápi, Gábor Nyirő, István Likó, Attila Patócs
Coincidences of more than one pathogenic mutation in high and/or moderate risk-associated cancer genes have been rarely reported, and the implication for disease progression has been debated. We present a case harboring two autosomal dominant inherited mutations potentially aggravating the phenotype. Case report: A 16-year-old female was referred to the Endocrine Unit due to two palpable thyroid nodules and hair loss. Two hypoechoic, inhomogeneous masses with microcalcification in the thyroid gland were confirmed as medullary thyroid carcinoma...
2019: Frontiers in Genetics
#15
JOURNAL ARTICLE
Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V 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 M Lourenço, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo, Ana L 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 tumors. Several reports have demonstrated that the RET mutation profile may vary according to the 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...
March 1, 2019: Endocrine Connections
#16
REVIEW
Ali Turhan, Adlen Foudi, Jin Wook Hwang, Christophe Desterke, Frank Griscelli, Annelise 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...
March 2019: Experimental Hematology
#17
JOURNAL ARTICLE
Zoë Y G J van Lierop, Sander Jentjens, Monique H M E Anten, Roel Wierts, Connie T Stumpel, Bas Havekes, Marinus J P G van Kroonenburgh
PURPOSE: To investigate thyroid gland characteristics on 18 F-FDG positron emission tomography/computed tomography (PET/CT) imaging in patients with neurofibromatosis type 1 (NF1). SUBJECTS AND METHODS: Thyroid gland characteristics of patients with a clinical diagnosis of NF1 who underwent 18 F-FDG PET/CT imaging for the first time to distinguish benign neurofibroma from malignant peripheral nerve sheath tumor (MPNST) at our institution ( n = 69) were compared to PET/CT imaging of sarcoidosis ( n = 25) and early stage lung cancer (T1 N0 M0 tumors, n = 15) patients...
June 2018: European Thyroid Journal
#18
JOURNAL ARTICLE
Piotr F J Lipiński, Piotr Garnuszek, Michał Maurin, Raphael Stoll, Nils Metzler-Nolte, Artur Wodyński, Jan Cz Dobrowolski, Marta K Dudek, Monika Orzełowska, Renata Mikołajczak
BACKGROUND: The cholecystokinin receptor subtype 2 (CCK-2R) is an important target for diagnostic imaging and targeted radionuclide therapy (TRNT) due to its overexpression in certain cancers (e.g., medullary thyroid carcinoma (MTC)), thus matching with a theranostic principle. Several peptide conjugates suitable for the TRNT of MTC have been synthesized, including a very promising minigastrin analogue DOTA-(DGlu)6 -Ala-Tyr-Gly-Trp-Met-Asp-Phe-NH2 (CP04). In this contribution, we wanted to see whether CP04 binding affinity for CCK-2R is sensitive to the type of the complexed radiometal, as well as to get insights into the structure of CP04-CCK2R complex by molecular modeling...
April 16, 2018: EJNMMI Research
#19
JOURNAL ARTICLE
A Bennaceur-Griscelli, J Hadoux, O Féraud, P Opolon, D Divers, E Gobbo, M Schlumberger, F Griscelli, A G Turhan
Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. These iPSC had normal karyotype, harboured the RETM918T mutation and expressed pluripotency hallmarks...
August 2017: Stem Cell Research
#20
REVIEW
L Mucha, G Leidig-Bruckner, K Frank-Raue, Th Bruckner, M Kroiss, F Raue
OBJECTIVES: We describe phaeochromocytoma (phaeo) penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations and report changes in phaeo diagnosis and management from 1968 to 2015. DESIGN: This retrospective chart review included 309 MEN2 patients from one specialized ambulatory care centre. Phaeo patients were categorized 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...
October 2017: Clinical Endocrinology
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