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Medullary thyroid carcinoma

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https://www.readbyqxmd.com/read/28209747/pediatric-adolescent-and-young-adult-thyroid-carcinoma-harbors-frequent-and-diverse-targetable-genomic-alterations-including-kinase-fusions
#1
Pierre Vanden Borre, Alexa B Schrock, Peter M Anderson, John C Morris, Andreas M Heilmann, Oliver Holmes, Kai Wang, Adrienne Johnson, Steven G Waguespack, Sai-Hong Ignatius Ou, Saad Khan, Kar-Ming Fung, Philip J Stephens, Rachel L Erlich, Vincent A Miller, Jeffrey S Ross, Siraj M Ali
BACKGROUND: Thyroid carcinoma, which is rare in pediatric patients (age 0-18 years) but more common in adolescent and young adult (AYA) patients (age 15-39 years), carries the potential for morbidity and mortality. METHODS: Hybrid-capture-based comprehensive genomic profiling (CGP) was performed prospectively on 512 consecutively submitted thyroid carcinomas, including 58 from pediatric and AYA (PAYA) patients, to identify genomic alterations (GAs), including base substitutions, insertions/deletions, copy number alterations, and rearrangements...
February 16, 2017: Oncologist
https://www.readbyqxmd.com/read/28191292/oncocytic-variant-of-medullary-thyroid-carcinoma-a-rare-case-of-sporadic-multifocal-and-bilateral-ret-wild-type-neoplasm-with-revision-of-the-literature
#2
Gian Luca Rampioni Vinciguerra, Niccolò Noccioli, Claudia Cippitelli, Angelo Minucci, Ettore Capoluongo, Armando Bartolazzi
Oncocytic variant of medullary thyroid carcinoma (OV-MTC) is a very unusual entity, up to date only 17 cases have been reported in the literature. MTC is a neuro-endocrine malignancy arising from the para-follicular C cells of the thyroid gland. It generally has a slight female predominance and appears as a single lesion. However in the Multiple Endocrine Neoplasia Syndrome 2, linked to the point mutation of RET oncogene, multifocal MTCs may also occur. Herein, we report the case of a 75 years old man with a rare form of sporadic multifocal and bilateral OV-MTC expressing wild-type RET gene...
November 17, 2016: Rare Tumors
https://www.readbyqxmd.com/read/28186607/-clinical-features-and-mutations-of-ret-proto-oncogene-in-a-pedigree-affected-with-type-2a-multiple-endocrine-neoplasia
#3
Yong Zhang, Xiao Zheng, Liang Cheng, Shaogang Ma
OBJECTIVE: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A). METHODS: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced. RESULTS: A missense mutation p.C634W was detected in 8 members from the family...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28167464/high-frequency-ultrasound-features-and-pathological-characteristics-of-medullary-thyroid-carcinoma
#4
Hua Wang, Mengmeng Liu, Jianqiu Yang, Yimin Song
To study high-frequency ultrasound features and pathological characteristics of medullary thyroid carcinoma (medullary thyroid carcinoma, MTC) with the purpose to improve the diagnostic accuracy of this disease. The clinical data of 20 cases of patients with MTC confirmed by the clinical surgery were retrospectively analyzed. And the high-frequency ultrasound features were analyzed and compared with the pathological characteristics. There were 16 cases with tumor invasion into one side of the thyroid gland; 17 cases with tumor in the middle-upper pole of the thyroid gland...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28166595/basal-serum-calcitonin-after-calcium-stimulation-and-in-the-needle-washout-of-patients-with-thyroid-nodules-and-mild-or-moderate-basal-hypercalcitoninemia
#5
P W Rosario, M R Calsolari
This prospective study evaluated the concentrations of basal serum calcitonin (Ctn), Ctn after stimulation with calcium, and Ctn in the needle washout (FNA-Ctn) as predictors of sporadic medullary thyroid carcinoma (MTC) in patients with thyroid nodules and basal Ctn between 10 and 100 pg/ml. Forty-one patients were included in the study. MTC was diagnosed in only 6 patients (14.6%). None of the patients with basal Ctn≤24.6 pg/ml (n=26) or stimulated Ctn≤186.5 pg/ml (n=21) had MTC. All patients without MTC had basal Ctn<47 pg/ml and stimulated Ctn<655...
February 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28166591/search-of-the-p-m918t-mutation-in-the-ret-oncogene-in-mexican-adult-patients-with-medullary-thyroid-carcinoma
#6
Erika Ruiz-Garcia, Silvia Vidal-Millan, Alicia Lopez-Yañez, José Antonio Posada Torres, Jorge Alberto Guadarrama-Orozco, Leonardo Saul Lino-Silva, Abelardo Meneses-Garcia, Horacio Astudillo-de la Vega, Martin Granados Garcia
Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes. The major component tumor of these syndromes is medullary thyroid carcinoma (MTC). To date, somatic mutations in RET have been identified in tumors from individuals with MEN 2 finding. RET M918T mutation is present in 95% of the MEN2B cases, and approximately 50% of sporadic MTCs harbor this mutation. We performed a mutational analysis in 17 cases of Medullary thyroid carcinoma, the somatic missense mutation at codon 918 of RET was found in 2 of the 17 MTCs, and one case presented MEN2 phenotype including MTC...
February 6, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28154018/hepatic-lesions-in-a-cirrhotic-liver-primary-or-metastases
#7
Lorenzo Mannelli, Serena Monti, Verena Grieco, Manuela Matesan
Although prior studies showed that patients with cirrhosis have a lower risk of developing liver metastases, appropriate work-up of incidental liver masses in cirrhotic liver is important for a correct diagnosis. Here we present a case of newly diagnosed liver cirrhosis with multifocal hepatic lesions which was initially categorized as LI-RADS 5 lesions. Scintigraphy with Octreoscan indicate a suspicious thyroid nodule, later confirmed to represent a medullary thyroid carcinoma lesion. The most relevant imaging finding of this rare form of thyroid malignancy, are reviewed in this presentation...
February 2, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/28134695/multiple-endocrine-neoplasia-type-2b-unmasked-by-18f-fdg-pet-ct-and-131i-mibg-spect-ct
#8
Xun Sun, Maher Mohamad Rajab Arnous, Xiaoli Lan
F-FDG PET/CT was performed to detect an occult malignancy in a 26-year-old woman with complicated medical history which included paroxysmal hypertension and significantly elevated tumor marker. The images revealed lesions in the thyroid, lymph nodes, and bilateral adrenal glands. Further I-MIBG SPECT/CT revealed intense activity in the lesion in the left adrenal gland, which was consistent with pheochromocytoma. The pathology examination after subsequent neck biopsy demonstrated medullary thyroid carcinoma...
January 27, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28131876/modulating-the-function-of-atp-binding-cassette-subfamily-g-member-2-abcg2-with-inhibitor-cabozantinib
#9
Guan-Nan Zhang, Yun-Kai Zhang, Yi-Jun Wang, Anna Maria Barbuti, Xi-Jun Zhu, Xin-Yue Yu, Ai-Wen Wen, John N D Wurpel, Zhe-Sheng Chen
Cabozantinib (XL184) is a small molecule tyrosine kinase receptor inhibitor, which targets c-Met and VEGFR2. Cabozantinib has been approved by the Food and Drug Administration to treat advanced medullary thyroid cancer and renal cell carcinoma. In the present study, we evaluated the ability of cabozantinib to modulate the function of the ATP-binding cassette subfamily G member 2 (ABCG2) by sensitizing cells that are resistant to ABCG2 substrate antineoplastic drugs. We used a drug-selected resistant cell line H460/MX20 and three ABCG2 stable transfected cell lines ABCG2-482-R2, ABCG2-482-G2, and ABCG2-482-T7, which overexpress ABCG2...
January 25, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28126478/gene-signature-associated-with-upregulation-of-the-wnt-%C3%AE-catenin-signaling-pathway-predicts-tumor-response-to-transarterial-embolization
#10
Etay Ziv, Hooman Yarmohammadi, F Edward Boas, Elena Nadia Petre, Karen T Brown, Stephen B Solomon, David Solit, Diane Reidy, Joseph P Erinjeri
PURPOSE: To identify gene mutations in tumors undergoing transarterial embolization and explore the relationship between gene mutations and tumor response to embolization. MATERIALS AND METHODS: This was a retrospective review that included 17 patients with primary or metastatic liver tumors treated with embolization and had specimens analyzed for a 341-gene panel next-generation sequence assay. Pathologic conditions included hepatocellular, carcinoid, pancreatic neuroendocrine, melanoma, medullary thyroid, and liver acinar-cell carcinoma...
January 23, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28122586/mir-182-promotes-cancer-invasion-by-linking-ret-oncogene-activated-nf-%C3%AE%C2%BAb-to-loss-of-the-hes1-notch1-regulatory-circuit
#11
Alf Spitschak, Claudia Meier, Bhavani Kowtharapu, David Engelmann, Brigitte M Pützer
BACKGROUND: Dominant-activating mutations in the RET proto-oncogene, a receptor tyrosine kinase, are responsible for the development of medullary thyroid carcinoma (MTC) and causative for multiple endocrine neoplasia (MEN) type 2A and 2B. These tumors are highly aggressive with a high propensity for early metastasis and chemoresistance. This attribute makes this neoplasia an excellent model for probing mechanisms underlying cancer progression. METHODS: The expression level of miR-182 was measured in MTC tumor specimens and in TT cells by real-time RT-PCR...
January 26, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28119454/selective-ablation-of-tumor-suppressors-in-parafollicular-c-cells-elicits-medullary-thyroid-carcinoma
#12
Hai Song, Chuwen Lin, Erica Yao, Kuan Zhang, Xiaoling Li, Qingzhe Wu, Pao-Tien Chuang
Among the four different types of thyroid cancer, treatment of medullary thyroid carcinoma poses a major challenge due to its propensity of early metastasis. To further investigate the molecular mechanisms of medullary thyroid carcinoma and discover candidates for targeted therapies, we developed a new mouse model of medullary thyroid carcinoma based on our CGRPCreER mouse line. This system enables gene manipulation in parafollicular C cells in the thyroid, the purported cells of origin of medullary thyroid carcinoma...
January 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28104029/-next-generation-sequencing-technology-for-susceptible-gene-screening-in-familial-non-medullary-thyroid-carcinoma
#13
L Dong, Y Yu, J P Yu, W J Hao, X Q Zheng, Y N Cheng, L Han, J Z Zhao, M Gao
Objective: To screen genes related to familial non-medullary thyroid carcinoma (FNMTC) using next-generation sequencing (NGS). Methods: A panel of NGS was designed and sequencing was performed for DNA samples extracted from peripheral blood leukocytes of FNMTC patients and sporadic non-medullary thyroid carcinoma (SNMTC) cases, respectively, and gene mutations were screened. In addition, the clinicopathological characteristics, including tumor size, extension of surgery, lymph node metastasis and extra-thyroidal extension, were compared between patients with or without mutations...
January 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28103650/thyroid-cancer-after-hysterectomy-on-benign-indications-findings-from-an-observational-cohort-study-in-sweden
#14
Henrik Falconer, Li Yin, Rino Bellocco, Daniel Altman
To investigate the association between hysterectomy and thyroid cancer subtypes based on histopathology. We did a nationwide, population-based, cohort study from 1973 to 2009 in Sweden. We identified as our study population all women above 18 years of age during the period between January 1, 1973 and December 31, 2009 from the Register of Population (n= 5.704,202) Individual case ascertainment of primary thyroid cancer subtypes were restricted to 1993-2009 based on histological pathologic-anatomical-diagnosis from the Cancer Register...
January 19, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28101495/medullary-thyroid-carcinoma-distinction-towards-neuroectodermal-tumours-reply-to-the-letter-by-paschou-and-vryonidou
#15
Mikael Nilsson, E Dillwyn Williams
No abstract text is available yet for this article.
December 2016: European Thyroid Journal
https://www.readbyqxmd.com/read/28100632/the-role-of-hepatic-trans-arterial-chemoembolization-in-metastatic-medullary-thyroid-carcinoma-a-specialist-center-experience-and-review-of-the-literature
#16
Simona Grozinsky-Glasberg, Allan Bloom, Naama Lev-Cohain, Alexander Klimov, Hashem Besiso, David Gross
BACKGROUND: Liver metastases are relatively common in patients with metastatic medullary thyroid carcinoma (MTC), carrying a negative impact on disease prognosis. The options for selective therapy of liver metastases in MTC patients are limited to catheter guided procedures such as trans-arterial chemoembolization (TACE). Data regarding the effectiveness and safety of this procedure in MTC is limited. AIM: To explore the clinical outcome, survival and safety profile of TACE for liver metastases in a group of MTC patients...
January 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28099363/different-ret-gene-mutation-induced-multiple-endocrine-neoplasia-type-2a-in-3-chinese-families
#17
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, Gang Yuan, Weihua Lan, Dianzheng Zhang, Jun Zhang, Zaoming Huang, Yao Zhang, Jun Jiang
BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28094086/differentiated-and-medullary-thyroid-cancer-surgical-management-of-cervical-lymph-nodes
#18
P Asimakopoulos, I J Nixon, A R Shaha
Thyroid cancer metastasises to the central and lateral compartments of the neck frequently and early. The impact of nodal metastases on outcome is affected by the histological subtype of the primary tumour and the patient's age, as well as the size, number and location of those metastases. The impact of extranodal extension has recently been highlighted as an important prognosticating factor. Although clinically evident nodal disease in the lateral neck compartments has a significant impact on both survival and recurrence, microscopic metastases to the central or the lateral neck in well-differentiated thyroid cancer do not significantly affect outcome...
January 13, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28089742/multiple-habp2-variants-in-familial-papillary-thyroid-carcinoma-contribution-of-a-group-of-thyroid-checked-controls
#19
Benjamin Kern, Lucie Coppin, Pauline Romanet, Michel Crépin, Isabelle Szuster, Florence Renaud, Emmanuelle Leteurtre, Frédéric Frénois, Jean-Louis Wemeau, Bruno Carnaille, Catherine Cardot-Bauters, Christine Do Cao, Pascal Pigny
A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro, has been described in 4-14% of kindreds of European-American ancestry with familial papillary thyroid carcinoma (fPTC). But it is also found in ≈4% of Europeans and European/Americans from public databases that, however, did not provide information on the thyroid function of the controls. To get unbiased results, we decided to compare HABP2 genotypes of patients with fPTC with those of "thyroid-checked" controls...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28088216/immunohistochemical-features-of-giant-cell-ependymoma-of-the-filum-terminale-with-unusual-clinical-and-radiological-presentation
#20
Fernando Candanedo-Gonzalez, Cindy Sharon Ortiz-Arce, Samuel Rosales-Perez, Ana Lilia Remirez-Castellanos, Candelaria Cordova-Uscanga, Armando Gamboa-Dominguez
BACKGROUND: Giant cell ependymoma of the filum terminale is a rare variant, generally manifested as a well-circunscribed intradural mass with an indolent biological behavior. CASE PRESENTATION: We describe the case of a 48-year-old Mexican female who non-relevant past medical history, that developed a GCE of the filum terminale. Magnetic resonance imaging and computed tomography revealed the presence of an intra-axial tumor extending from L3 to L5 with extra-medullary invasion...
January 14, 2017: Diagnostic Pathology
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