Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis
| Autor: | Roberta Sgariglia, Elena Vigliar, Umberto Malapelle, Mariantonia Nacchio, Claudio Bellevicine, Giancarlo Troncone, Gianfranco De Dominicis, Caterina De Luca, Eduardo Clery, Severo Campione, Gianluca Gragnano, Ilaria Migliatico, Pasquale Pisapia |
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| Přispěvatelé: | De Luca, C., Sgariglia, R., Nacchio, M., Pisapia, P., Migliatico, I., Clery, E., Gragnano, G., Campione, S., Vigliar, E., Malapelle, U., De Dominicis, G., Bellevicine, C., Troncone, G. |
| Rok vydání: | 2020 |
| Předmět: |
Proto-Oncogene Proteins B-raf
Neuroblastoma RAS viral oncogene homolog medicine.medical_specialty Histology Formalin fixed paraffin embedded Biopsy Fine-Needle DNA Mutational Analysis Thyroid Gland NRAS 030209 endocrinology & metabolism GTP Phosphohydrolases BRAF Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine medicine Humans Thyroid Neoplasms Genotyping Cell block business.industry Thyroid Membrane Proteins General Medicine DNA extraction Idylla Cost savings medicine.anatomical_structure Molecular Diagnostic Techniques molecular cytopathology FNA Cytopathology 030220 oncology & carcinogenesis Mutation thyroid nodule Radiology business |
| Zdroj: | Diagnostic Cytopathology. 48:300-307 |
| ISSN: | 1097-0339 8755-1039 |
| DOI: | 10.1002/dc.24378 |
| Popis: | Background Thyroid fine-needle aspirates (FNAs) with undetermined morphology can be outsourced to centralized laboratories for comprehensive molecular profiling. When a local, rapid screening rules out easily detectable BRAF and NRAS mutations outsourcing is minimized, leading to cost savings. The fully automated Idylla technology, that does not require trained staff, is an emerging option. However, Idylla platform has only been validated to process formalin fixed paraffin embedded (FFPE) sections. Here we investigate whether also the FNA needle rinse could be genotyped by the same cytopathologist who performs the FNA, a procedure that can be termed rapid on site molecular evaluation (ROME). Methods To validate this approach, the Idylla BRAF and NRAS Test was performed on the rinses from 25 simulated (bench-top) FNAs, in a first part of the study. Genotyping data were compared with those obtained on matched histological FFPE blocks. The second part of the study was carried out on 25 prospectively collected routine FNAs to assess the performance of the Idylla BRAF and NRAS assay against a gold standard real time polymerase chain reaction method. Results Idylla NRAS-BRAF Mutation Test was performed on needle rinse as well as histological FFPE blocks. A sensitivity of 88.9%, a specificity of 100.0% were obtained comparing the Idylla NRAS-BRAF Mutation Test on needle rinse to the reference method. Conclusions The FNA needle rinse can be directly genotyped. This obviates the need of cell block preparation, making possible a rapid combined morphological and molecular evaluation. Since DNA extraction is no longer necessary, the cytopathologist can perform ROME him/herself. |
| Databáze: | OpenAIRE |
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