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https://www.readbyqxmd.com/read/28549037/evaluation-of-a-dna-extraction-and-purification-protocol-using-archived-formalin-fixed-paraffin-embedded-tissues-for-braf-mutations-analysis-in-papillary-thyroid-microcarcinomas
#1
Adela Nechifor-Boilă, Andrada Loghin, Françoise Descotes, Myriam Decaussin-Petrucci, Angela Borda
The isolation of good quality genomic DNA from formalin-fixed, paraffin-embedded tissues is challenging, especially in cases of small tissue specimens. The aim of our study was to evaluate a DNA extraction protocol using formalin-fixed, paraffin-embedded tissues in our laboratory and apply this method to a series of papillary thyroid microcarcinomas (PTMCs). A total of 25 PTMCs and 3 papillary thyroid carcinoma control cases were included in the study. We assessed a DNA extraction protocol on the basis of a precipitation method (MasterPure DNA purification kit, Epicentre), according to the manufacturer's instructions...
May 25, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28537891/multiplex-pcr-approach-to-simultaneously-identify-several-mutations-in-fine-needle-cytology-thyroid-samples
#2
Emilia Vuttariello, Marco Borra, Elvira Mauriello, Celeste Calise, Barbara D'Andrea, Anna Capiluongo, Franco Fulciniti, Anna Cipolletta, Mario Monaco, Luciano Pezzullo, Gennaro Chiappetta
The most frequent initial manifestation of thyroid cancer is the appearance of a nodule. More than 20% of the general population has a palpable thyroid nodule and the percentage rises to 70% based on ultrasound identification. In 95% of cases the nodule is simply a hyperplastic or benign lesion. The most reliable diagnostic test for thyroid nodules is fine needle aspiration (FNA), but cytological discrimination between malignant and benign follicular neoplasms remains difficult. Cytological analysis is now, almost routinely, being combined with molecular genetics to enable the pathologist to make a more objective diagnosis...
May 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537807/next-generation-sequencing-identifies-gene-mutations-that-are-predictive-of-malignancy-in-residual-needle-rinses-collected-from-fine-needle-aspirations-of-thyroid-nodules
#3
Maren Y Fuller, Dina Mody, April Hull, Kristi Pepper, Heather Hendrickson, Randall Olsen
CONTEXT: - Thyroid nodules have a prevalence of approximately 70% in adults. Fine-needle aspiration (FNA) is a minimally invasive, cost-effective, standard method to collect tissue from thyroid nodules for cytologic examination. However, approximately 15% of thyroid FNA specimens cannot be unambiguously diagnosed as benign or malignant. OBJECTIVE: - To investigate whether clinically actionable data can be obtained using next-generation sequencing of residual needle rinse material...
May 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28535653/-clinical-pathological-characteristics-of-resectable-papillary-thyroid-microcarcinoma
#4
C L Shi, Y Guo, Y C Lyu, Z A B Y S Nanding, W C Gao, T F Shi, H D Qin, S Y Liu
Objective: To investigate the difference of prognostic factors and recurrence rates between papillary thyroid microcarcinoma (PTMC) and lager papillary thyroid carcinoma (PTC) and analyze the clinical pathological characteristics of PTMC suitable for surgery. Methods: A retrospective analysis on the clinicopathological features, expression level of of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) V600E gene mutation and pigment epithelium-derived factor (PEDF), and postoperative follow-up results of the 251 PTC patients who underwent surgical treatment from October 2011 to October 2013, including 169 cases with PTMC and 82 with lager PTC (Tumor diameter>1 cm)...
May 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28534687/role-of-molecular-markers-in-thyroid-nodule-management-then-and-now
#5
Yuri E Nikiforov
OBJECTIVE: To describe the evolution and clinical utility of molecular testing for thyroid nodules and cancer achieved over the last two decades. METHODS: Scientific reports on thyroid cancer genetics and molecular diagnostics in thyroid nodules. RESULTS: Over the last two decades, our understanding of the genetic mechanisms of thyroid cancer has dramatically expanded, such that most thyroid cancers now have known gene driver events. This knowledge provides the basis for establishing and further improving molecular tests for thyroid nodules and cancer and for the introduction of new entities such as non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)...
May 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28529577/aggressiveness-of-the-tall-cell-variant-of-papillary-thyroid-carcinoma-is-independent-of-the-tumor-size-and-patient-age
#6
Rocío Villar-Taibo, Diego Peteiro-González, José Manuel Cabezas-Agrícola, Elvin Aliyev, Francisco Barreiro-Morandeira, Clara Ruiz-Ponte, José M Cameselle-Teijeiro
The tall cell variant (TCV) of papillary thyroid carcinoma (PTC) is characterized by tall columnar cells with a height of at least three times their width. TCV usually presents at an older age, has a larger size and exhibits more extrathyroidal extension and metastases than classical PTC. The current study compared TCV with the classical and follicular variants (CaFVs) of PTC to determine if, irrespective of the age at diagnosis and tumor size, TCV is more aggressive than its classical and follicular counterparts...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521635/pathologic-characteristics-natural-history-and-prognostic-implications-of-braf-v600e-mutation-in-pediatric-papillary-thyroid-carcinoma
#7
Steven Hardee, Manju L Prasad, Pei Hui, Catherine A Dinauer, Raffaella A Morotti
The BRAF(V600E) mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28507274/targeted-next-generation-sequencing-identifies-somatic-mutations-and-gene-fusions-in-papillary-thyroid-carcinoma
#8
Zheming Lu, Yujie Zhang, Dongdong Feng, Jindong Sheng, Wenjun Yang, Baoguo Liu
138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2%). Moreover, we identified 11 fusion genes including eight previously reported ones and three novel fusion genes, UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28506411/partial-thyroidectomy-for-papillary-thyroid-microcarcinoma-is-completion-total-thyroidectomy-indicated
#9
C Dobrinja, M Pastoricchio, M Troian, F Da Canal, S Bernardi, B Fabris, N de Manzini
AIM: Papillary thyroid microcarcinoma (PTMC) is increasing in incidence. Despite its excellent clinical outcomes, there is still debate regarding which surgical approach is more appropriate for PTMC, procedures including hemithyroidectomy (HT), total thyroidectomy (TT), and completion thyroidectomy (CT) after initial HT and histopathologic examination confirming a PTMC. Here we report our experience in the surgical management of PTMC. METHODS: We conducted a retrospective evaluation of all patients who received a postoperative diagnosis of PTMC between January 2001 and January 2016...
May 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28504713/elevated-pttg-and-pbf-predicts-poor-patient-outcome-and-modulates-dna-damage-response-genes-in-thyroid-cancer
#10
M L Read, J C Fong, B Modasia, A Fletcher, W Imruetaicharoenchoke, R J Thompson, H Nieto, J J Reynolds, A Bacon, U Mallick, A Hackshaw, J C Watkinson, K Boelaert, A S Turnell, V E Smith, C J McCabe
The proto-oncogene PTTG and its binding partner PBF have been widely studied in multiple cancer types, particularly thyroid and colorectal, but their combined role in tumourigenesis is uncharacterised. Here, we show for the first time that together PTTG and PBF significantly modulate DNA damage response (DDR) genes, including p53 target genes, required to maintain genomic integrity in thyroid cells. Critically, DDR genes were extensively repressed in primary thyrocytes from a bitransgenic murine model (Bi-Tg) of thyroid-specific PBF and PTTG overexpression...
May 15, 2017: Oncogene
https://www.readbyqxmd.com/read/28502101/identification-of-somatic-tert-promoter-mutations-in-familial-non-medullary-thyroid-carcinomas-fnmtc
#11
Inês J Marques, Margarida M Moura, Rafael Cabrera, António E Pinto, Joana Simões-Pereira, Catarina Santos, Francisco D Menezes, Diana Montezuma, Rui Henrique, Manuel R Teixeira, Valeriano Leite, Branca M Cavaco
OBJECTIVE: The genes causing Familial Non-Medullary Thyroid Carcinoma (FNMTC) identified to date are only involved in a small fraction of the families. Recently, somatic mutations in TERT promoter region and in EIF1AX gene were reported in thyroid tumours of undefined familial status. The aim of the present study was to investigate the role of TERT and EIF1AX mutations in familial thyroid tumours. DESIGN: The promoter region of TERT was sequenced in leukocyte DNA of the probands from 75 FNMTC families...
May 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28493027/clinicopathological-characteristics-of-thyroid-cancer-in-the-federal-state-of-salzburg
#12
Gundula Rendl, Margarida Rodrigues, Gregor Schweighofer-Zwink, Josef Hutter, Anton Hittmair, Barbara Zellinger, Cornelia Hauser-Kronberger, Christian Pirich
OBJECTIVE: The aim of our investigation was to evaluate the clinicopathological characteristics and mutation patterns in newly diagnosed cases of thyroid cancer in the federal state of Salzburg, Austria, in the year 2013. METHODS: The medical records of all patients newly diagnosed with thyroid cancer in 2013 in the federal state of Salzburg were retrospectively reviewed. The clinicopathological characteristics and mutations of thyroid cancers were analyzed. RESULTS: 63 patients (mean age: 51...
May 10, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28490781/identification-of-long-noncoding-rnas-deregulated-in-papillary-thyroid-cancer-and-correlated-with-braf-v600e-mutation-by-bioinformatics-integrative-analysis
#13
Lucas Goedert, Jessica Rodrigues Plaça, Cesar Seigi Fuziwara, Maiaro Cabral Rosa Machado, Desirée Rodrigues Plaça, Palloma Porto Almeida, Talita Perez Sanches, Jair Figueredo Dos Santos, Amanda Cristina Corveloni, Illy Enne Gomes Pereira, Marcela Motta de Castro, Edna Teruko Kimura, Wilson Araújo Silva, Enilza Maria Espreafico
Papillary Thyroid Cancer (PTC) is an endocrine malignancy in which BRAF(V600E) oncogenic mutation induces the most aggressive phenotype. In this way, considering that lncRNAs are arising as key players in oncogenesis, it is of high interest the identification of BRAF(V600E)-associated long noncoding RNAs, which can provide possible candidates for secondary mechanisms of BRAF-induced malignancy in PTC. In this study, we identified differentially expressed lncRNAs correlated with BRAF(V600E) in PTC and, also, extended the cohort of paired normal and PTC samples to more accurately identify differentially expressed lncRNAs between these conditions...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28489587/ngs-based-identification-of-mutational-hotspots-for-targeted-therapy-in-anaplastic-thyroid-carcinoma
#14
Vera Tiedje, Saskia Ting, Thomas Herold, Sarah Synoracki, Soeren Latteyer, Lars C Moeller, Denise Zwanziger, Martin Stuschke, Dagmar Fuehrer, Kurt Werner Schmid
CONTEXT: Anaplastic thyroid carcinoma (ATC) represents one of the most aggressive carcinomas with no consistent survival benefit when treated with conventional radiochemotherapy. Approaches targeting "oncogene addiction" of ATC are increasingly explored and first promising results have been reported in single case studies. OBJECTIVE: To determine the prevalence of mutations in known thyroid oncogenes and signalling pathways amendable to targeted therapy in a large cohort of ATC...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28472764/comparative-analysis-of-diagnostic-performance-feasibility-and-cost-of-different-test-methods-for-thyroid-nodules-with-indeterminate-cytology
#15
Salvatore Sciacchitano, Luca Lavra, Alessandra Ulivieri, Fiorenza Magi, Gian Paolo De Francesco, Carlo Bellotti, Leila B Salehi, Maria Trovato, Carlo Drago, Armando Bartolazzi
Since it is impossible to recognize malignancy at fine needle aspiration (FNA) cytology in indeterminate thyroid nodules, surgery is recommended for all of them. However, cancer rate at final histology is <30%. Many different test-methods have been proposed to increase diagnostic accuracy in such lesions, including Galectin-3-ICC (GAL-3-ICC), BRAF mutation analysis (BRAF), Gene Expression Classifier (GEC) alone and GEC+BRAF, mutation/fusion (M/F) panel, alone, M/F panel+miRNA GEC, and M/F panel by next generation sequencing (NGS), FDG-PET/CT, MIBI-Scan and TSHR mRNA blood assay...
April 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28469731/integrated-data-analysis-reveals-potential-drivers-and-pathways-disrupted-by-dna-methylation-in-papillary-thyroid-carcinomas
#16
Caroline Moraes Beltrami, Mariana Bisarro Dos Reis, Mateus Camargo Barros-Filho, Fabio Albuquerque Marchi, Hellen Kuasne, Clóvis Antônio Lopes Pinto, Srikant Ambatipudi, Zdenko Herceg, Luiz Paulo Kowalski, Silvia Regina Rogatto
BACKGROUND: Papillary thyroid carcinoma (PTC) is a common endocrine neoplasm with a recent increase in incidence in many countries. Although PTC has been explored by gene expression and DNA methylation studies, the regulatory mechanisms of the methylation on the gene expression was poorly clarified. In this study, DNA methylation profile (Illumina HumanMethylation 450K) of 41 PTC paired with non-neoplastic adjacent tissues (NT) was carried out to identify and contribute to the elucidation of the role of novel genic and intergenic regions beyond those described in the promoter and CpG islands (CGI)...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28467685/structural-alterations-in-tumor-draining-lymph-nodes-before-papillary-thyroid-carcinoma-metastasis
#17
Andrew M Hinson, Nicole A Massoll, Lee Ann Jolly, Brendan C Stack, Donald L Bodenner, Aime T Franco
BACKGROUND: The purpose of this study was to define and characterize the thyroid tumor-draining lymph nodes in genetically engineered mice harboring thyroid-specific expression of oncogenic Braf(V600E) with and without Pten insufficiency. METHODS: After intratumoral injection of methylene blue, the lymphatic drainage of the thyroid gland was visualized in real time. The thyroid gland/tumor was resected en bloc with the respiratory system for histological analysis...
May 3, 2017: Head & Neck
https://www.readbyqxmd.com/read/28459034/lack-of-association-of-b-type-raf-kinase-v600e-mutation-with-high-risk-tumor-features-and-adverse-outcome-in-conventional-and-follicular-variants-of-papillary-thyroid-carcinoma
#18
C Gopalakrishnan Nair, Misha Babu, Lalitha Biswas, Pradeep Jacob, Riju Menon, A K Revathy, Krishnanunni Nair
INTRODUCTION: Somatic B-type Raf kinase (BRAF) V600E mutation in exon 15 was frequently found in high frequencies associated with papillary thyroid cancer (PTC). The phenotype of these cancers expressed aggressive clinical and pathological features. The present study aimed to assess the prevalence of BRAF V600E mutation among conventional and follicular variants of PTC and its association with aggressive tumor factors and outcome. STUDY DESIGN: Patients who were operated and received further treatment for PTC during 2012 were included in the study...
March 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28457063/prognostic-factors-in-differentiated-thyroid-cancer-revisited
#19
Eran Glikson, Eran Alon, Lev Bedrin, Yoav P Talmi
BACKGROUND: More than 90% of all thyroid cancers are differentiated thyroid carcinomas (DTC) with a 10 year survival rate greater than 90%. The commonly used risk stratification systems for DTC include: European Organization for Research and Treatment of Cancer (EORTC), AGES (Age, histologic Grade, Extent of tumor, Size), AMES (Metastasis) and MACIS (Completeness of resection, local Invasion). Other systems are also utilized. Several new factors that may be involved in DTC risk stratification have emerged in recent studies, with other "traditional" factors being challenged...
February 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28454296/association-between-braf-v600e-mutation-and-the-clinicopathological-features-of-solitary-papillary-thyroid-microcarcinoma
#20
Hai-Zhen Lu, Tian Qiu, Jian-Ming Ying, Ning Lyn
The B-Raf proto-oncogene serine/threonine kinase (BRAF)(V600E) mutation is an important oncogene in the development of papillary thyroid carcinoma (PTC) and has been identified as a risk factor for poor prognosis in patients with PTC. However, whether the BRAF(V600E) mutation is a prognostic marker in patients with solitary papillary thyroid microcarcinoma (sPTMC) has not yet been established. The present study aimed to identify the association between BRAF(V600E) mutation and the clinicopathological features of patients with sPTMC...
March 2017: Oncology Letters
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