Cancers, Vol. 11, Pages 1916: Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas

We examined the utility of microfluidic digital PCR (dPCR) for detection of BRAF and TERT mutations in thyroid tumors. DNA extracted from 100 thyroid tumors (10 follicular adenomas, 10 follicular cancers, 5 medullary cancers, and 75 papillary thyroid cancer (PTC) were used for detection of BRAF and TERT mutations. Digital PCRs were performed using rare mutation SNP genotyping assays on QuantStudio 3D platform. In PTCs, BRAFV600E was detected by dPCR and Sanger sequencing in 42/75 (56%) and in 37/75 (49%), respectively. BRAFV600E was not detected in other tumors. The ratio of mutant/total BRAF alleles varied from 4.7% to 47.5%. These ratios were higher in classical PTCs (27.1%) as compared to follicular variant PTCs (9.4%) p = 0.001. In PTCs with and without metastases, the ratios of mutant/total BRAF alleles were 27.6% and 18.4%, respectively, (p = 0.03). In metastatic lesions percentages of mutant/total BRAF alleles were similar to those detected in primary tumors. TERTC228T and TERTC250T were found in two and one cases, respectively, and these tumors concomitantly harbored BRAFV600E. These tumors exhibited gross extra-thyroidal extension, metastases to lymph nodes, and pulmonary metastases (one case). Our results showed that dPCR allows quantitative assessment of druggable targets in PTCs and could be helpful in a molecular-based stratification of prognosis in patients with thyroid cancer.
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research

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ng Bom Min Kwon We investigated whether the performance of serum thyroglobulin (Tg) for response prediction could be improved based on the iodine uptake pattern on the post-therapeutic I-131 whole body scan (RxWBS) and the degree of thyroid tissue damage with radioactive iodine (RAI) therapy. A total of 319 patients with differentiated thyroid carcinoma who underwent total thyroidectomy and RAI therapy were included. Based on the presence/absence of focal uptake at the anterior midline of the neck above the thyroidectomy bed on RxWBS, patients were classified into positive and negative uptake groups. Serum Tg ...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
ConclusionStage I PTC patients showed large amount of expressional heterogeneity. Therefore, risk stratification based on the expressional alterations of candidate biomarkers could be an important step toward personalized management of these patients.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
Conditions:   Thyroid;   Renal Cell Carcinoma;   Non Small Cell Lung Cancer;   Small-cell Lung Cancer;   Bladder Cancer;   Melanoma;   Merkel Cell Carcinoma;   Skin Squamous Cell Carcinoma;   Microsatellite Instability High;   Triple Negative Breast Cancer;   Mesothelioma;   Thym ic Cancer;   Cervical Cancer;   Biliary Tract Cancer;   Hepatocellular Carcinoma;   Ovarian Cancer;   Gastric Cancer;   Head ...
Source: - Category: Research Source Type: clinical trials
We described the first Italian experience with Afirma tests in a single Italian institution and assessed the performance of the Afirma test in TIR3B. Moreover, this is a preliminary study to assess the patient response to the offer of Afirma testing. The Afirma test was proposed to 67 patients with thyroid nodules that had yielded TIR3B cytology. Fifty-one patients (76.1%) chose the Afirma test, 25/51 underwent the test but the remaining 26 did not because of cost. A total of 41/67 (61.2%) patients underwent surgery, and 22/41 (53.7%) nodules were carcinomas. Of the 25 tested by Afirma, 9 (36%) were classified as Afirma-su...
Source: Endocrine Pathology - Category: Pathology Source Type: research
Source: Cancer Management and Research - Category: Cancer & Oncology Tags: Cancer Management and Research Source Type: research
ConclusionsIn pediatric total thyroidectomies, central neck dissection and gross extrathyroidal extension were major predictors for overall hypoparathyroidism. Surgeons performing thyroidectomy in such patients should be aware of the relatively high risk, preserve parathyroid tissue to the extent possible, and be conscientious regarding postoperative calcium monitoring and replacement.
Source: World Journal of Surgery - Category: Surgery Source Type: research
ierlorenzo Pallante Anaplastic thyroid carcinoma (ATC) represents one the most aggressive neoplasias in humans, and, nowadays, limited advances have been made to extend the survival and reduce the mortality of ATC. Thus, the identification of molecular mechanism underlying its progression is needed. Here, we evaluated the long non-coding RNA (lncRNA) expression profile of nine ATC in comparison with five normal thyroid tissues by a lncRNA microarray. By this analysis, we identified 19 upregulated and 28 downregulated lncRNAs with a fold change >1.1 or <−1.1 and p-value < 0.05, in ATC samp...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Publication date: Available online 14 January 2020Source: Life SciencesAuthor(s): Zhiyi Feng, Rong Chen, Nanqi Huang, Chaoyuan LuoAbstractLong non-coding RNA (lncRNA) is emerging as an essential player in cancer progression. However, its biological function and clinical implication in papillary thyroid carcinoma (PTC) remain poorly understood. In the current study, we found that a novel lncRNA, ASMTL antisense RNA 1 (ASMTL-AS1), was significantly downregulated in PTC. And its downregulation was positively linked to larger tumor size, advanced clinical stage and unfavorable outcome. Overexpression of ASMTL-AS1 evidently inh...
Source: Life Sciences - Category: Biology Source Type: research
CONCLUSIONS: The rare frameshift mutation in the TINF2 gene and the associated longer telomere length suggest that dysregulated telomeres could be a mechanism predisposing to PTC and melanoma. DNA coding variants in shelterin genes are rare. Further studies are required to evaluate the roles of variants in shelterin genes in thyroid cancer and melanoma. PMID: 31928178 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
n A Abstract Papillary thyroid carcinomas (PTC) account for 90% of human thyroid cancer cases which represent 1% of all cancer cases. They are likely to develop from papillary thyroid microcarcinomas (PTMC) found in up to 36% of healthy individuals due to rare progression events (0.01%). Although the prognosis of PTCs is excellent, 5% to 10% of tumors display an unfavorable outcome. About 45% of PTCs exhibit activating BRAFV600E mutations. Rats of the inbred BD strains postnatally exposed to the carcinogen N-ethyl-N-nitrosourea developed PTMCs which closely resembled their human counterparts judging from their his...
Source: The American Journal of Pathology - Category: Pathology Authors: Tags: Am J Pathol Source Type: research
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