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.
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.
Authors: Paul Hofman; Jacques Boutros; Didier Benchetrit; Jonathan Benzaquen; Sylvie Leroy; Virginie Tanga; Olivier Bordone; Maryline Allégra; Virginie Lespinet; Julien Fayada; Charlotte Maniel; Jennifer Griffonnet; Eric Selva; Giancarlo Troncone; Giuseppe Portella; Thibaut Lavrut; Richard Chemla; Michel Carles; Marius Ilié; Charles Marquette Journal: Ann Transl Med Date: 2021-06
Authors: Umberto Malapelle; Pasquale Pisapia; Antonino Iaccarino; Massimo Barberis; Claudio Bellevicine; Hans Brunnström; Dario de Biase; Giovanna De Maglio; Kajsa Ericson Lindquist; Matteo Fassan; Gabriella Fontanini; Elisa Gruppioni; Paul Hofman; Sabine Merkelbach-Bruse; Miguel A Molina Vila; Anaïs Pujals; Ida Rapa; Luisella Righi; Rafael Rosell; Oliver Schildgen; Verena Schildgen; Fernando C Schmitt; Giovanni Tallini; Sara Vander Borght; Elena Vigliar; Marco Volante; Svenja Wagener-Ryczek; Birgit Weynand; Giancarlo Troncone Journal: J Clin Pathol Date: 2020-07-31 Impact factor: 3.411