NDLI: Formalin-Fixed and Paraffin-Embedded Samples for Next Generation Sequencing: Problems and Solutions

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Formalin-Fixed and Paraffin-Embedded Samples for Next Generation Sequencing: Problems and Solutions

Content Provider	MDPI
Author	Cazzato, Gerardo Caporusso, Concetta Arezzo, Francesca Cimmino, Antonietta Colagrande, Anna Loizzi, Vera Cormio, Gennaro Lettini, Teresa Maiorano, Eugenio Scarcella, Vincenza Sara Tarantino, Paola Marrone, Maricla Stellacci, Alessandra Parente, Paola Romita, Paolo Marco, Aurora De Venerito, Vincenzo Foti, Caterina Ingravallo, Giuseppe Rossi, Roberta Resta, Leonardo
Copyright Year	2021
Description	Over the years, increasing information has been asked of the pathologist: we have moved from a purely morphological diagnosis to biomolecular and genetic studies, which have made it possible to implement the use of molecular targeted therapies, such as anti-epidermal growth factor receptor (EGFR) molecules in EGFR-mutated lung cancer, for example. Today, next generation sequencing (NGS) has changed the approach to neoplasms, to the extent that, in a short time, it has gained a place of absolute importance and diagnostic, prognostic and therapeutic utility. In this scenario, formaldehyde-fixed and paraffin-embedded (FFPE) biological tissue samples are a source of clinical and molecular information. However, problems can arise in the genetic material (DNA and RNA) for use in NGS due to fixation, and work is being devoted to possible strategies to reduce its effects. In this paper, we discuss the applications of FFPE tissue samples in the execution of NGS, we focus on the problems arising with the use of this type of material for nucleic acid extraction and, finally, we consider the most useful strategies to prevent and reduce single nucleotide polymorphisms (SNV) and other fixation artifacts.
Starting Page	1472
e-ISSN	20734425
DOI	10.3390/genes12101472
Journal	Genes
Issue Number	10
Volume Number	12
Language	English
Publisher	MDPI
Publisher Date	2021-09-23
Access Restriction	Open
Subject Keyword	Genes Ngs Ffpe Pcr Dna Rna
Content Type	Text
Resource Type	Article

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