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 ◽  
...  
2011 ◽  
Vol 73 (4) ◽  
pp. AB327
Author(s):  
James L. Buxbaum ◽  
Isam Eltoum ◽  
Christianne J. Lane ◽  
Shyam Varadarajulu ◽  
Ami L. Linder ◽  
...  

1998 ◽  
Vol 44 (11) ◽  
pp. 2243-2248 ◽  
Author(s):  
Josefina Mora ◽  
Pere Puig ◽  
Jaume Boadas ◽  
Eulàlia Urgell ◽  
Enric Montserrat ◽  
...  

Abstract Detection of K-ras mutations may be useful in the evaluation of pancreatic cancer. The aim of this study was to assess, in a prospective design, the diagnostic utility of K-ras mutation analysis in 62 consecutive fine-needle aspirates of pancreatic masses, using two PCR-based techniques—standard and enriched—with detection limits of a mutant allele in the presence of 102 or 103 wild-type alleles, respectively. Cytology alone offered a diagnostic sensitivity of 75%. The enriched higher sensitivity detection technique, in combination with cytology, offered a diagnostic sensitivity of 91% without false positives. The molecular analysis would have contributed to diagnosis in an additional 14 cases of pancreatic cancer. The standard technique contributed to diagnosis in an additional 9 cases. These results strongly support the use of the enriched method of detecting K-ras mutations as a complement to cytology in the evaluation of pancreatic masses.


2015 ◽  
Vol 143 (2) ◽  
pp. 193-200 ◽  
Author(s):  
Frank Schneider ◽  
Matthew A. Smith ◽  
Molly C. Lane ◽  
Liron Pantanowitz ◽  
Sanja Dacic ◽  
...  

2018 ◽  
Vol 22 (6) ◽  
pp. 785 ◽  
Author(s):  
PaulM Jacob ◽  
Ramamoorthy Hemalatha ◽  
Rekha Pai ◽  
MarieT Manipadam ◽  
Grace Rebekah ◽  
...  

2021 ◽  
pp. jclinpath-2021-207429
Author(s):  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
Ilaria Migliatico ◽  
Elena Vigliar ◽  
Umberto Malapelle ◽  
...  

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.


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

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