IV Molecular Cytopathology Focus on Next Generation Sequencing in Cytopathology

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1 Napoli 4 dicembre 2015 Università Degli Studi di Napoli Federico II Dipartimento di Sanità Pubblica Meeting Director: Giancarlo Troncone Centro Congressi Federico II Via Partenope Napoli IV Molecular Cytopathology Focus on Next Generation Sequencing in Cytopathology

2 Napoli 4 dicembre 2015 Università Degli Studi di Napoli Federico II Dipartimento di Sanità Pubblica Meeting Director: Giancarlo Troncone Centro Congressi Federico II Via Partenope Napoli IV Molecular Cytopathology Focus on Next Generation Sequencing in Cytopathology Until recently, cytological samples were only tested by sequential single-gene mutational tests. Next generation sequencing, matched with multiplex capture of targeted gene regions and analysed by sophisticated bioinformatics tools, enables the simultaneous detection of multiple mutations in multiple genes. By the development of miniaturized technology and of benchtop sequencers it is not unlikely that NGS will soon be adopted for routine molecular diagnostics, including cytological samples. The IV MOLECULAR CYTOPATHOLOGY meeting addresses (1) the most relevant methodological and technical aspects of the NGS analysis workflow and the diverse platforms available; (2) the issues related to daily practice implementation, namely, the cytological sample requirement and the validation procedures; and (3) the opportunities that NGS offers in different fields of cytopathology, to increase mutation detection sensitivity in paucicellular smears and to extend the analysis to a larger number of gene regions.

3 IV Molecular Cytopathology Napoli 4 Dicembre Preliminary Programme h 9.30 Welcome: Gaetano Manfredi Rettore Università degli studi di Napoli Federico II Maria Triassi Direttore Dipartimento Sanità Pubblica Gaetano de Rosa Presidente SIAPEC Ambrogio Fassina (Padova) Cytology Working group SIAPEC h Meeting overview: Giancarlo Troncone (Napoli). Next Generation Cytopathology I Session : h Update on Molecular cytopathology Chairmen: Pio Zeppa (Salerno) Philippe Vielh (Paris) Molecular cytopathology as a diagnostic tool Fernando Schmitt (Luxemburg) Molecular cytopathology as a predictive tool Spasineha Savic (Basel) FISH role in molecular cytopathology II Session: h 12, NGS analysis on cytology Chairmen: Antonio Marchetti (Chieti) Umberto Malapelle (Napoli) How to make NGS working on cytology Salto Tellez Manuel (Belfast) How to validate next generation sequencing Gabriella Fontanini (Pisa) Multitarget assay on cytology: not only NGS.

4 III Session : h 13, Liquid Biopsy Chairmen: Gabriella Fontanini (Pisa) Miguel Angel Molina (Barcellona ) EGFR mutations in circulating tumour DNA Antonio Marchetti (Chieti) Quantification of EGFR mutations in plasma samples of NSCLC patients: clinical implications Lunch (h ) IV Session: Thyroid Molecular Cytopathology ( ,10) Chairmen: Bernardette Biondi (Napoli) Fadda Guido (Roma) Italian consensus on Thyroid cytology and molecular testing Anna Crescenzi (Roma) Thyroid core needle biopsy: taking stock of the situation. Giovanni Tallini (Bologna) Molecular diagnosis of carcinomas of the thyroid gland. Rossi Ester Diana (Roma) Cytological changes and BRAF mutations V Session: Multigene Thyroid Cytopathology (16,30 17,40) Chairmen: Domenico Salvatore (Napoli) Eszlinger Markus (Leipizg) Development of molecular assay on thyroid routine smears Dario de Biase (Bologna) High sensitive BRAF assay on Thyroid cytology Claudio Bellevicine (Napoli) How NGS can refine the risk of malignancy of Indeterminate thyroid FNA Fulvio Basolo (Pisa) Digital gene expression profiling of a series of cytologically indeterminate thyroid nodules Take home message: h

5 Giancarlo Troncone (Napoli)