Analytical validation of a novel targeted next-generation sequencing assay for mutation detection in thyroid nodule aspirates and tissue

ConclusionsThis validation study of a novel NGS-based assay for thyroid nodules demonstrated that the assay can be reliably used on multiple thyroid sample types, including FNA from different sources and FF and FFPE thyroid samples, thus providing a robust and reliable assay to genotype thyroid nodules, which may improve thyroid cancer diagnosis and care.
Source: Endocrine - Category: Endocrinology Source Type: research

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Analysis of molecular markers in addition to cytological analysis of fine-needle aspiration (FNA) samples is a promising way to improve the preoperative diagnosis of thyroid nodules. Nonetheless, in clinical p...
Source: BMC Cancer - Category: Cancer & Oncology Authors: Tags: Research article 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
In conclusion, despite the low prevalence of IET and cervical EET, clinicians and radiologists should be aware of US characteristics of such lesions and of the necessity of confirmation of their benign character. Elastography is a useful tool to initially differentiate PTC and IET. However, due to the high risk of malignancy in thyroid lesions in children, similarity of US features of PTC and IET, and because of the possibility of malignancy in ET, only cytological evaluation provides definitive diagnosis and prevents, on one hand, unnecessary frequent diagnostic procedures and/or surgery and, on the other hand, missing ma...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
CONCLUSIONS: The presented data and comparison with other commercially available tests suggest that the mir-THYpe test can be considered for use in clinical practice to support a more informed clinical decision for patients with indeterminate thyroid nodules and potentially reduce the rates of unnecessary thyroid surgeries. PMID: 30319072 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
CONCLUSIONSCytology preparations can be a reliable source for the detection of both DNA and RNA aberrations. The ability to simultaneously detect multiple types of genomic variants is crucial for patients with advanced cancer and maximizes the usefulness of cytology specimens. Cancer Cytopathol 2018. © 2018 American Cancer Society.
Source: Cancer Cytopathology - Category: Pathology Authors: Tags: Original Article Source Type: research
We report a case of a metastatic carotid body tumor. At the time of the biopsy and during initial review of the fine-needle aspiration sample, the remote history of carotid body tumor was unknown to the clinician and the cytopathologist. Fine-needle aspiration smears showed morphology suggestive of endocrine features such as lack of cohesion, manifesting as tumor cells seen mostly as single intact cells with “salt-and-pepper”–type chromatin, intranuclear inclusions, eccentrically placed nuclei lacking prominent nucleoli, and moderately abundant cytoplasm. Occasional significantly larger tumor cells were n...
Source: Pathology Case Reviews - Category: Pathology Tags: Case Report Source Type: research
CONCLUSIONSIn thyroid FNA examined with TP only, lowering the adequacy threshold and eliminating the requirement of 6 groups of at least 10 cells did not significantly affect test performance if cytological features associated with malignancy were absent. Cancer Cytopathol 2017. © 2017 American Cancer Society.
Source: Cancer Cytopathology - Category: Pathology Authors: Tags: Original Article Source Type: research
CONCLUSIONSAlthough PTC‐CCV may demonstrate features that overlap with those of the classic variant of PTC, hypercellular smears with papillary structures covered by cells with pseudostratified nuclei that show a paucity of nuclear pseudoinclusions and grooves should alert the cytopathologist to the possibility of this diagnosis. Cancer Cytopathol 2017. © 2017 American Cancer Society.
Source: Cancer Cytopathology - Category: Pathology Authors: Tags: Original Article Source Type: research
BackgroundA fine needle aspiration biopsy (FNAB) is the most valuable diagnostic procedure for pre‐operative discrimination of benign and malignant nodules. The Bethesda System for Reporting Thyroid Cytopathology provides standardised reporting and cytomorphological criteria in aspiration smears. The aim of the present study was to determine malignancy rates in nodules with different cytology results and evaluate the diagnostic value of Bethesda for variants of papillary thyroid carcinoma (PTC). Materials and methodsA retrospective analysis of 2534 cases with 5784 thyroid nodules, who underwent FNAB followed by surgery, ...
Source: Cytopathology - Category: Pathology Authors: Tags: Original Article Source Type: research
CONCLUSIONSCHPv2 is a valid option for the molecular evaluation of thyroid FNA specimens by NGS. It is interesting to note that this approach is accurate and effective even when applied to routine cytology samples that usually do not have optimal preanalytical and postsequencing requirements. Cancer Cytopathol 2016. © 2016 American Cancer Society.
Source: Cancer Cytopathology - Category: Pathology Authors: Tags: Original Article Source Type: research
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