Clinical approach for molecular testing on thyroid fine needle aspirates

Cytopathology ◽  
2018 ◽  
Vol 29 (6) ◽  
pp. 598-598
Author(s):  
Sabri Özden ◽  
Sadettin Er ◽  
Mesut Tez
Keyword(s):  
Molecular Testing ◽  
Clinical Approach ◽  
Fine Needle ◽  
Fine Needle Aspirates

scholarly journals Adequacy of Core Needle Biopsy Specimens and Fine-Needle Aspirates for Molecular Testing of Lung Adenocarcinomas

2015 ◽  
Vol 143 (2) ◽  
pp. 193-200 ◽  
Author(s):  
Frank Schneider ◽  
Matthew A. Smith ◽  
Molly C. Lane ◽  
Liron Pantanowitz ◽  
Sanja Dacic ◽  
...  
Keyword(s):  
Core Needle Biopsy ◽  
Needle Biopsy ◽  
Molecular Testing ◽  
Core Needle ◽  
Fine Needle ◽  
Fine Needle Aspirates ◽  
Biopsy Specimens ◽  
Lung Adenocarcinomas

scholarly journals Molecular testing for BRAFV600E and RAS mutations from cytoscrapes of thyroid fine needle aspirates: A single-center pilot study

2020 ◽  
Vol 37 (4) ◽  
pp. 174
Author(s):  
Radhika Srinivasan ◽  
Ojas Gupta ◽  
Upasana Gautam ◽  
Muralidaran Chandrasekhar ◽  
Arvind Rajwanshi ◽  
...  
Keyword(s):  
Pilot Study ◽  
Molecular Testing ◽  
Single Center ◽  
Fine Needle ◽  
Ras Mutations ◽  
Fine Needle Aspirates

Moving towards a local testing solution for undetermined thyroid fine-needle aspirates: validation of a novel custom DNA-based NGS panel

2021 ◽  
pp. jclinpath-2021-207429
Author(s):  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
Ilaria Migliatico ◽  
Elena Vigliar ◽  
Umberto Malapelle ◽  
...  
Keyword(s):  
Local Level ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Health Coverage ◽  
Fine Needle ◽  
Fine Needle Aspirates ◽  
Gene Test ◽  
Thyroid Fine Needle Aspiration ◽  
Thyroid Fna ◽  
Prohibitive Cost

AimsIn thyroid cytopathology, the undetermined diagnostic categories still pose diagnostic challenges. Although next-generation sequencing (NGS) is a promising technique for the molecular testing of thyroid fine-needle aspiration (FNA) specimens, access to such technology can be difficult because of its prohibitive cost and lack of reimbursement in countries with universal health coverage. To overcome these issues, we developed and validated a novel custom NGS panel, Nexthyro, specifically designed to target 264 clinically relevant mutations involved in thyroid tumourigenesis. Moreover, in this study, we compared its analytical performance with that of our previous molecular testing strategy.MethodsThe panel, which includes 15 genes (BRAF, EIF1AX, GNAS, HRAS, IDH1, KRAS, NF2, NRAS, PIK3CA, PPM1D, PTEN, RET, DICER1, CHEK2, TERT promoter), was validated with a cell-line derived reference standard and 72 FNA archival samples previously tested with the 7-gene test.ResultsNexthyro yielded 100% specificity and detected mutant alleles at levels as low as 2%. Moreover, in 5/72 (7%) FNAs, it detected more clinically relevant mutations in BRAF and RAS genes compared with the 7-gene test. Nexthyro also revealed better postsequencing metrics than the previously adopted commercial ‘generic’ NGS panel.ConclusionOur comparative analysis indicates that Nexthyro is a reliable NGS panel. The study also implies that a custom-based solution for routine thyroid FNA is sustainable at the local level, allowing patients with undetermined thyroid nodules affordable access to NGS.

scholarly journals Utilization of direct smears of thyroid fine-needle aspirates for ancillary molecular testing: A comparison of two proprietary testing platforms

2018 ◽  
Vol 46 (4) ◽  
pp. 320-325 ◽  
Author(s):  
Kristen L. Partyka ◽  
Melissa L. Randolph ◽  
Karen A. Lawrence ◽  
Harvey Cramer ◽  
Howard H. Wu
Keyword(s):  
Molecular Testing ◽  
Fine Needle ◽  
Fine Needle Aspirates

Molecular testing on endobronchial ultrasound (EBUS) fine needle aspirates (FNA): Impact of triage

2017 ◽  
Vol 46 (2) ◽  
pp. 122-130 ◽  
Author(s):  
Simon Sung ◽  
John P. Crapanzano ◽  
David DiBardino ◽  
David Swinarski ◽  
William A. Bulman ◽  
...  
Keyword(s):  
Endobronchial Ultrasound ◽  
Molecular Testing ◽  
Fine Needle ◽  
Fine Needle Aspirates

scholarly journals Pre-analytic steps for molecular testing on thyroid fine-needle aspirations: The goal of good results

CytoJournal ◽  
2013 ◽  
Vol 10 ◽  
pp. 24 ◽  
Author(s):  
Esther Diana Rossi ◽  
Fernando Schmitt
Keyword(s):  
Molecular Analysis ◽  
Direct Sequencing ◽  
High Specificity ◽  
Clinical History ◽  
Molecular Techniques ◽  
Molecular Testing ◽  
Clinical Approach ◽  
Common Error ◽  
Fine Needle

Fine-needle aspiration cytology (FNAC) represents a valid alternative to biopsy in a variety of clinical settings mainly based on its simplicity and less invasive clinical approach. In some cases, morphology evaluation alone is not sufficient to manage the patients, so that the application of ancillary techniques can contribute to diagnosis, prognosis and prediction of tumor behavior. These techniques include polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), in situ PCR, direct Sequencing, microarrays and proteomic methodologies. Although several recent experiences underline the superior value of deoxyribonucleic acid (DNA) quality mainly for advanced genomic high throughput platforms, very scant literature studied the role of the pre-analytical or analytical phases. Despite the high specificity of molecular techniques as a support for diagnosis, there is a need for an increased standardization of pre-analytical/analytical steps such as providing appropriate clinical history, proper collection of laboratory specimens and proper preparation of samples, adequate fixative/reagent concentrations and technical equipments. All these requirements are crucial according to the results from 42 American laboratories, which reported 0.33% of significant molecular errors with 60% of them in the pre-analytical phase. The most common error is to forget that cytological preparation requires specific molecular variables, which are different from histological specimens. Cytological samples offer the advantage of a well preserved DNA, readily extractable and reasonably stable (from 6 months to 5 years) avoiding pitfalls due to formalin-fixation. Freshly prepared, unstained direct, alcohol-fixed papanicolaou, air-dried diff-quick smears are all suitable for DNA extraction and preservation. In the specific field of thyroid FNAC, molecular analysis has been supported by the growing evidence that papillary thyroid carcinoma (PTC), the most common thyroid cancer, frequently is a diploid lesion and can display non-overlapping mutations of the v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) in 46% to 70%, cases, ret proto-oncogene (RET) in 3 to 85% and Rat Sarcoma oncogene (RAS) in 0-21% cases. Recently, several cytological papers demonstrated that the combination of morphology and molecular analysis can increase the diagnostic accuracy allowing more precise prediction of malignancy regardless of the diagnostic categories. In conclusion, the correct use of the pre-analytical-analytical steps might lead to optimal results on cytology and empower the prognostic value of molecular techniques as strong indicators of cancer for their high specificity and positive predictive value.

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