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https://www.readbyqxmd.com/read/29345728/analytical-performance-of-the-thyroseq-v3-genomic-classifier-for-cancer-diagnosis-in-thyroid-nodules
#1
Marina N Nikiforova, Stephanie Mercurio, Abigail I Wald, Michelle Barbi de Moura, Keith Callenberg, Lucas Santana-Santos, William E Gooding, Linwah Yip, Robert L Ferris, Yuri E Nikiforov
BACKGROUND: Molecular tests have clinical utility for thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology, although their performance requires further improvement. This study evaluated the analytical performance of the newly created ThyroSeq v3 test. METHODS: ThyroSeq v3 is a DNA- and RNA-based next-generation sequencing assay that analyzes 112 genes for a variety of genetic alterations, including point mutations, insertions/deletions, gene fusions, copy number alterations, and abnormal gene expression, and it uses a genomic classifier (GC) to separate malignant lesions from benign lesions...
January 18, 2018: Cancer
https://www.readbyqxmd.com/read/29316976/clinical-implications-of-the-braf-mutation-in-papillary-thyroid-carcinoma%C3%A2-and-chronic-lymphocytic-thyroiditis
#2
Woon Won Kim, Tae Kwun Ha, Sung Kwon Bae
BACKGROUND: The purpose of this study was to examine the possible prognostics and clinicopathologic characteristics underlying the BRAFV600E mutation and papillary thyroid carcinoma (PTC) coexisting or in absence of chronic lymphocytic thyroiditis (CLT). METHODS: This study was conducted on 172 patients who had undergone total thyroidectomy or unilateral total thyroidectomy for PTC; the patients were then examined for the BRAFV600E mutation using specimens obtained after their surgery from January 2013 to August 2015...
January 9, 2018: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29312581/ultrasound-and-clinicopathological-features-of-papillary-thyroid-carcinomas-with-braf-and-tert-promoter-mutations
#3
Soo Yeon Hahn, Tae Hyuk Kim, Chang Seok Ki, Sun Wook Kim, Soohyun Ahn, Jung Hee Shin, Jae Hoon Chung
This study is to investigate if any relationship exists between the telomerase reverse transcriptase (TERT) promoter or proto-oncogene BRAF mutation and ultrasound (US) and clinicopathological features of papillary thyroid carcinomas (PTCs). The study included 150 patients with surgically confirmed PTC from October 1994 to December 2004. According to the existence of TERT promoter or BRAF mutations, we categorized patients into three groups (no mutation, BRAF mutation alone, or TERT+BRAF mutations) and analyzed the relationships between TERT promoter or BRAF mutation and US and clinicopathological features...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29300866/diagnostic-utility-of-molecular-and-imaging-biomarkers-in-cytological-indeterminate-thyroid-nodules
#4
Elizabeth J de Koster, Lioe-Fee de Geus-Oei, Olaf M Dekkers, Ilse van Engen-van Grunsven, Jaap Hamming, Eleonora P M Corssmit, Hans Morreau, Abbey Schepers, Jan Smit, Wim J G Oyen, Dennis Vriens
Indeterminate thyroid cytology (Bethesda III and IV) corresponds to follicular-patterned benign and malignant lesions, which are particularly difficult to differentiate on cytology alone. As approximately 25% of these nodules harbor malignancy, diagnostic hemithyroidectomy is still custom. However, advanced preoperative diagnostics are rapidly evolving.This review provides an overview of additional molecular and imaging diagnostics for indeterminate thyroid nodules in a pre-operative clinical setting, including considerations regarding cost-effectiveness, availability, and feasibility of combining techniques...
January 2, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29298843/nis-expression-in-thyroid-tumors-relation-with-prognosis-clinicopathological-and-molecular-features
#5
Catarina Tavares, Maria João Coelho, Catarina Eloy, Miguel Melo, Adriana Gaspar da Rocha, Ana Pestana, Rui Batista, Luciana Bueno Ferreira, Elisabete Rios, Samia Selmi-Ruby, Bruno Cavadas, Luísa Pereira, Manuel Sobrinho Simões, Paula Soares
Thyroid cancer therapy is based on surgery followed by radioiodine treatment. The incorporation of radioiodine by cancer cells is mediated by sodium iodide symporter (NIS) (codified by the SLC5A5 gene), that is functional only when targeted to the cell membrane. We aimed to evaluate if NIS expression in thyroid primary tumors would be helpful in predicting tumor behavior, response to therapy and prognosis. NIS expression was addressed by qPCR and immunohistochemistry. In order to validate our data, we also studied SLC5A5 expression on 378 primary papillary thyroid carcinomas from The Cancer Genome Atlas (TCGA) database...
January 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29295876/rapid-clinical-and-radiographic-response-with-combined-dabrafenib-and-trametinib-in-adults-with-braf-mutated-high-grade-glioma
#6
Tanner M Johanns, Cole J Ferguson, Patrick M Grierson, Sonika Dahiya, George Ansstas
BRAF V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. Interestingly, these mutations have also been identified in a subset of pediatric and adult brain tumors, with several cases reportedly responding to targeted therapy. However, these reports have been limited to single-agent BRAF inhibitor therapy and recurrent disease. Herein, we report dramatic clinical and radiographic responses to combination dabrafenib (BRAF inhibitor) and trametinib (MEK inhibitor) in 2 adults with high-grade gliomas (HGGs), with 1 patient treated in the first-line setting...
January 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29278520/malignant-struma-ovarii-harboring-a-unique-nras-mutation-case-report-and-review-of-the-literature
#7
Carlo Gobitti, Alessandro Sindoni, Chiara Bampo, Tanja Baresic, Giorgio Giorda, Lara Alessandrini, Vincenzo Canzonieri, Giovanni Franchin, Eugenio Borsatti
Struma ovarii (SO), a rare tumor containing at least 50% of thyroid tissue, represents approximately 5% of all ovarian teratomas; its malignant transformation rate is reported to occur in up to 10% of cases and metastases occur in about 5-6% of them. We describe a 36-year old woman who underwent laparoscopic left annessectomy two years earlier because of an ovarian cyst. Follow-up imaging revealed a right adnexal mass, ascitis and peritoneal nodes that were diagnosed as comprising a malignant SO with peritoneal secondary localizations at histopathology performed after intervention...
July 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29240540/patient-age-associated-mortality-risk-is-differentiated-by-braf-v600e-status-in-papillary-thyroid-cancer
#8
Xiaopei Shen, Guangwu Zhu, Rengyun Liu, David Viola, Rossella Elisei, Efisio Puxeddu, Laura Fugazzola, Carla Colombo, Barbara Jarzab, Agnieszka Czarniecka, Alfred K Lam, Caterina Mian, Federica Vianello, Linwah Yip, Garcilaso Riesco-Eizaguirre, Pilar Santisteban, Christine J O'Neill, Mark S Sywak, Roderick Clifton-Bligh, Bela Bendlova, Vlasta Sýkorová, Mingzhao Xing
Purpose For the past 65 years, patient age at diagnosis has been widely used as a major mortality risk factor in the risk stratification of papillary thyroid cancer (PTC), but whether this is generally applicable, particularly in patients with different BRAF genetic backgrounds, is unclear. The current study was designed to test whether patient age at diagnosis is a major mortality risk factor. Patients and Methods We conducted a comparative study of the relationship between patient age at diagnosis and PTC-specific mortality with respect to BRAF status in 2,638 patients (623 men and 2,015 women) with a median age of 46 years (interquartile range, 35 to 58 years) at diagnosis and a median follow-up time of 58 months (interquartile range, 26 to 107 months)...
December 14, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29240539/is-braf-v600e-mutation-the-explanation-for-age-associated-mortality-risk-in-patients-with-papillary-thyroid-cancer
#9
Megan R Haymart
No abstract text is available yet for this article.
December 14, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29239040/molecular-pathology-of-thyroid-tumours-of-follicular-cells-a-review-of-genetic-alterations-and-their-clinicopathological-relevance
#10
REVIEW
Giorgia Acquaviva, Michela Visani, Andrea Repaci, Kerry J Rhoden, Dario de Biase, Annalisa Pession, Tallini Giovanni
Thyroid cancer is the most common endocrine malignancy. Knowledge of the molecular pathology of thyroid tumours originating from follicular cells has greatly advanced in the past several years. Common molecular alterations, such as BRAF p.V600E, RAS point mutations, and fusion oncogenes (RET-PTC being the prototypical example), have been, respectively, associated with conventional papillary carcinoma, follicular-patterned tumours (follicular adenoma, follicular carcinoma, and the follicular variant of papillary carcinoma/non-invasive follicular thyroid neoplasm with papillary-like nuclear features), and with papillary carcinomas from young patients and arising after exposure to ionising radiation, respectively...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239036/a-user-s-guide-to-non-invasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-niftp
#11
REVIEW
Yin P Hung, Justine A Barletta
The term non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was recently introduced to replace a subset of follicular variant of papillary thyroid carcinoma (FVPTC). The goal of this change was to promote more conservative management of these tumours and spare patients the psychological burden of a cancer diagnosis. The histological diagnosis of NIFTP is stringent: the tumour needs to demonstrate encapsulation or circumscription, a purely follicular architecture and the presence of nuclear features of papillary thyroid carcinoma, while lacking capsular and vascular invasion, a significant component of solid growth and high-grade features (increased mitotic activity and necrosis)...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29232305/braf-inhibitors-can-exert-control-of-disease-in-braf-t599i-mutated-melanoma-a-case-report
#12
Susanna Gallo, Valentina Coha, Daniela Caravelli, Paolo Becco, Tiziana Venesio, Alessandro Zaccagna, Elena Giacone, Federica Marenco, Alberto Pisacane, Manuela Racca, Loretta Gammaitoni, Massimo Aglietta, Fabrizio Carnevale-Schianca
BRAF signaling is involved in melanoma growth in more than half of metastatic patients. In the last few years, new drugs that block this pathway have significantly improved the outcomes of patients with metastatic melanoma. Ninety percent of BRAF mutations involve exon 15, and the most frequent, V600E, results from the amino acid change from valine (V) to glutamic acid (E). BRAF inhibitor treatments have shown a notable overall response rate and improvements in progression-free and overall survival. Rare BRAF mutations of codon 599 have been also described in a few patients with papillary thyroid cancer and melanoma...
December 11, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29228620/unfavorable-efficacy-to-131i-ablation-in-brafv600e-mutant-papillary-thyroid-carcinoma-with-positive-tgab
#13
Na Zhang, Jun Liang, Yan-Song Lin
The BRAFV600E mutation has shown a close relationship of aggressiveness in papillary thyroid carcinoma (PTC), while it remains unclear about its influence on the therapeutic response. As a common clinicopathologic risk factor, thyroglobulin antibody (TgAb) may have a correlation of prognosis in PTC. The objective was to investigate the relationship between BRAFV600E mutation and TgAb, and their combined effect on efficacy to radioiodine remnant ablation (RRA). This was a retrospective study including 298 PTC patients and they were divided into four groups according to the combined status...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29228520/the-significance-of-trop2-expression-in-predicting-braf-mutations-in-papillary-thyroid-carcinoma
#14
Joon Seog Kong, Hyeon Jin Kim, Min-Jung Kim, Areumnuri Kim, Dalnim Lee, Kanghee Han, Sunhoo Park, Jae Soo Koh, Jae Kyung Myung
Background: Trophoblast antigen 2 (TROP2) is a human trophoblast cell-surface glycoprotein that is overexpressed in several types of epithelial cancers, and is suggested to be associated with an unfavorable prognosis. BRAF mutations are the most common genetic alteration in papillary thyroid carcinoma (PTC). We evaluated the correlation between TROP2 expression and BRAF mutation in PTC. Methods: First, we carried out pyrosequencing for BRAF mutations and immunohistochemistry for TROP2 expression with a tissue microarray consisting of 52 PTC cases...
December 11, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29221192/tumor-suppressive-function-of-unc5d-in-papillary-thyroid-cancer
#15
Man-Man Zhang, Feng Sun, Bing Cui, Le-Le Zhang, Ya Fang, Yan Li, Rui-Jia Zhang, Xiao-Ping Ye, Yu-Ru Ma, Bing Han, Huai-Dong Song
Background: Studies have shown an association of the UNC5D gene with kidney and bladder cancer and neuroblastoma. We investigated whether UNC5D acts as a tumor suppressor in papillary thyroid carcinoma (PTC). Methods: Primary PTC tumors and matched normal thyroid tissues were obtained from 112 patients to detect UNC5D mRNA by real-time PCR. Genomic DNA sequencing was performed to detect BRAF mutation in PTC tumors. The association between UNC5D expression and clinicopathological data from PTC patients was reviewed retrospectively...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29214440/massarray-based-simultaneous-detection-of-hotspot-somatic-mutations-and-recurrent-fusion-genes-in-papillary-thyroid-carcinoma-the-ptc-ma-assay
#16
Chiara Pesenti, Marina Muzza, Carla Colombo, Maria Carla Proverbio, Claudia Farè, Stefano Ferrero, Monica Miozzo, Laura Fugazzola, Silvia Tabano
PURPOSE: We exploited the MassARRAY (MA) genotyping platform to develop the "PTC-MA assay", which allows the simultaneous detection of 13 hotspot mutations, in the BRAF, KRAS, NRAS, HRAS, TERT, AKT1, PIK3CA, and EIF1AX genes, and six recurrent genetic rearrangements, involving the RET and TRK genes in papillary thyroid cancer (PTC). METHODS: The assay was developed using DNA and cDNA from 12 frozen and 11 formalin-fixed paraffin embedded samples from 23 PTC cases, together with positive and negative controls...
December 6, 2017: Endocrine
https://www.readbyqxmd.com/read/29209896/braf-oncogene-induced-senescence-and-the-role-of-thyroid-stimulating-hormone-signaling-in-the-progression-of-papillary-thyroid-carcinoma
#17
REVIEW
F I Moulana, A A H Priyani, M V C de Silva, R S Dassanayake
Oncogene-induced senescence (OIS) explains the phenomenon of cellular senescence triggered by the action of oncogenes. It is a mechanism adopted by a cell to inhibit progression of benign tumors into malignancy, occurs in premalignant lesions, and is almost never present in malignant lesions. BRAF mutations occur in about 40-45% of all papillary thyroid carcinomas (PTCs) and of which 99.7% is the BRAFV600E mutation. A unique phenotype of the BRAFV600E mutation is the upregulation of the thyroid-stimulating hormone receptor (TSHR) on thyrocyte membranes...
December 5, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/29199726/role-and-relevance-of-braf-mutations-in-risk-stratifying-patients-of-papillary-thyroid-cancers-along-with-a-review-of-literature
#18
A Krishnamurthy, V Ramshankar, K Murherkar, S Vidyarani, G C Raghunandhan, A Das, P B Desai, K Albert
INTRODUCTION: Molecular markers are increasingly being explored as a potential diagnostic and prognostic tool in patients with well-differentiated thyroid cancers and B-type Raf kinase (BRAF) V600E mutation has received a wide attention in this regard. Many clinical studies have demonstrated an association of BRAF V600E mutation with aggressive clinicopathologic characteristics and high tumor recurrence and mortality in patients with papillary thyroid cancers. Papillary thyroid cancers has been abbreviated and PTCs...
January 2017: Indian Journal of Cancer
https://www.readbyqxmd.com/read/29179638/the-hobnail-variant-of-papillary-thyroid-carcinoma-clinical-molecular-characteristics-of-a-large-monocentric-series-and-comparison-with-conventional-histotypes
#19
Sara Watutantrige-Fernando, Federica Vianello, Susi Barollo, Loris Bertazza, Francesca Galuppini, Elisabetta Cavedon, Simona Censi, Clara Benna, Eric Casal Ide, Alessandro Parisi, Davide Nacamulli, Maurizio Iacobone, Gianmaria Pennelli, Caterina Mian
BACKGROUND: The hobnail variant of papillary thyroid carcinoma (HPTC) has an aggressive behavior. The aims of this prospective study were to define the clinical/molecular characteristics of HPTC, and to compare them to those of conventional papillary thyroid carcinoma (PTC). METHODS: From 2010 to 2016, 25 cases of HPTC, characterized clinically and molecularly (BRAF, RAS, TERT promoter, and TP53 mutations), were compared to a series of 165 consecutive cases of PTC...
January 2, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29169834/-an-ovarian-tumor-can-hide-another-one
#20
Nicolas Brandone, Ilona Okhremchuk, Marie-Christine Rojat-Habib, Anne-Laroque Blanc, Wassim Essamet, Aubert Agostini, Nicolas Macagno
We report the case of a 33-year-old woman who went under surgery for a cystic mature teratoma. The histological exam found two cysts, one was a mature teratoma and the other was a struma ovarii with a papillary carcinomatous element. Struma ovarii cancerization is seen in 5 to 10% of the cases usually under a papillary carcinoma type. Diagnosis is rarely made before surgery, the patients exceptionally show thyroid symptoms. Histologically, the tumour presents the same way as the one seen in the thyroid gland and BRAF mutations have been reported...
November 20, 2017: Annales de Pathologie
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