Pisapia, Pasquale (2022) Consistency and reproducibility of next generation sequencing: a study on reference standards in a novel cytological format. [Tesi di dottorato]

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Abstract

Cytopathology field has undergone significant changes. Indeed, modern pathologists play a pivotal role in bridging the knowledge gap between conventional microscopic evaluation and novel molecular technologies. However, several issues still remain unresolved. One issue is that although cytological specimens harbor a higher quality of nucleic acids than histological samples, non-FFPE cytological smears require careful validation before they can be used for NGS analysis in routine diagnostic practice. Another open issue is that since most cytological preparations are unique and unrepeatable, they are not suitable for quality control studies across different laboratories to evaluate consistency and reproducibility of NGS results on cytological specimens. Currently, unlike FFPE material, cytological specimens have not yet been used to develop ring trial studies to assess the consistency and reproducibility of NGS results. Therefore, the overarching goal of my research project was precisely to fill this knowledge gap. In particular, in this thesis, I will describe my research activity on the development and validation of novel artificial reference standards in cytological format. These reference standards, which were distributed to different laboratories, allowed us to assess the consistency and reproducibility of NGS results on cytological specimens.

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