Detection of ctDNA in the plasma of patients with papillary thyroid carcinoma.

Detection of ctDNA in the plasma of patients with papillary thyroid carcinoma. Exp Ther Med. 2019 Nov;18(5):3389-3396 Authors: Li H, Zhao J, Zhang J, Wang C, Li M, Wu S, Su Z, Pan Q Abstract A total of 15-30% of thyroid nodules that are evaluated by fine-needle aspiration are not clearly determined to be benign or malignant. Gene mutation analysis is recommended for the evaluation of thyroid nodules using clinical guidelines. The detection of circulating tumor DNA (ctDNA) has the potential to aid in the screening, diagnosis and prediction of thyroid cancer prognosis, and can be used when tissues are difficult to obtain. In the present study, whole-exome sequencing (WES) was performed on tumors and matched normal tissues from 10 patients with papillary thyroid carcinoma (PTC) in Quanzhou, China. Hotspot mutations in tumor DNA and cell-free DNA were identified in the validation cohort, which included 59 patients with PTC. BRAF V600E occurred in five samples, and was the most frequent mutation observed. Variation allele frequency (VAF) of BRAF V600E detected by WES was positively correlated with VAF determined using digital PCR (R2=0.9197; P=0.0099). A number of novel mutated genes were identified, including zinc finger protein 717, pleckstrin homology like domain family A member 1, RBMX like 3, lysine methyltransferase 5A and trichohyalin, along with the reported genes BRAF, NRAS and mucin 16, cell surface associated. Somatic mutated genes were enriched in ...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research

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ConclusionThis case draws attention to the unique clinical value of molecular testing in the diagnosis of MTC. The authors believe this case supports the consideration for molecular testing to prevent missed diagnoses in cases of rare benign-appearing disease.
Source: American Journal of Otolaryngology - Category: Endocrinology Source Type: research
SUMMARY: The use of transoral sonography–guided fine-needle aspiration for intraoperative localization of retropharyngeal masses has been described by Fornage et al. The purpose of this study was to assess the accuracy of this technique. We reviewed the images and medical records of 26 patients with a retropharyngeal lesion suspicious for a metastatic lymph node of Rouviere identified on CT and/or PET/CT. There were 14 patients with a history of thyroid cancer, 7 with mucosal squamous cell carcinoma, 1 with renal cell carcinoma, 1 with parotid acinic cell cancer, 1 with metastatic colon adenocarcinoma, and 2 with no ...
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: HEAD & amp; NECK Source Type: research
In conclusion, the present case is an extremely rare occurrence of simultaneous multiple RDMs from PTC as the initial presentation.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Conclusion: Patients with type 1 DM should be examined for thyroid diseases, and patients with suspected thyroid disease should be evaluated with a thyroid ultrasound. Type 1 DM and PTC coexistence albeit very rare; It should be known that type 1 diabetes can be seen together with thyroid cancer. PMID: 31686641 [PubMed - as supplied by publisher]
Source: Current Diabetes Reviews - Category: Endocrinology Authors: Tags: Curr Diabetes Rev Source Type: research
In conclusion, quantification of cytological features could be used to develop a computer-aided tool for diagnosing PTC in thyroid nodules with indeterminate FNAC results.
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
In this study, we summarize AUS/FLUS diagnosed cases from thyroid fine needle aspirations in our center from 2015 to 2017 to explore the impact of BRAF V600E detection on the cytopathological diagnosis of PTC. BRAF V600E detection could significantly reduce the AUS/FLUS diagnosis rates from 11.59 to 8.42% when all BRAF V600E-mutated AUS/FLUS cases were diagnosed as conforming to PTC (20.01 to 19.13% in 2016 and 10.92 to 7.93% in 2017, respectively). The AUS/M rates decreased from 0.67 to 0.64 in 2016 and from 0.33 to 0.23 in 2017. We further discuss a case with a single BRAF V600E cytological mutant lacking a postoperative...
Source: Endocrine Pathology - Category: Pathology Source Type: research
We report a unique case of nodal MCC in head and neck lesions with an unknown primary. A 70-year-old woman was admitted to our department with a right submandibular mass. Fine needle aspiration biopsy was performed and indicated malignancy. F-18-fluorodeoxyglucose positron emission tomography (PET) demonstrated abnormal accumulation in the right submandibular lymph node, right palatine tonsil, and right thyroid gland. For diagnostics and treatment, bilateral selective neck lymph node dissection, right tonsillectomy, and right thyroidectomy were performed. Histopathological examination revealed that most parts of the subman...
Source: Acta Med Okayama - Category: Universities & Medical Training Authors: Tags: Yonago Acta Med Source Type: research
CONCLUSIONS: Because of the association between FAP or colon cancer with multifocal CMV-PTC, we confirm that an analysis of APC gene mutation and colonoscopy should be carried-out in these patients when multiple thyroid tumors are found. PMID: 31469036 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
CONCLUSION: Histological diagnosis finally confirmed a rare case of paraganglioma-like MTC (T1 N0 Mx), emphasizing the complexity of our differential diagnosis, between a MTC and a thyroidal paraganglioma. In similar cases, due to a relevant impact on surgical timing, patients should be adequately informed about both risk and benefits of the surgery during pregnancy, and a careful management of the disease is required until and after surgery. PMID: 31376826 [PubMed - as supplied by publisher]
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - Category: Drugs & Pharmacology Tags: Endocr Metab Immune Disord Drug Targets Source Type: research
Conclusion: Since most FN cytology has been pathologically diagnosed with papillary cancer and some papillary cancer subtypes have been unfavorable pathologically, total thyroidectomy should be the most suitable treatment option in this group. Lobectomy with LwI is not suitable for patients with FNAB-proven FN cytology. PMID: 31340635 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
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