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

被引：30

作者：

Cazzato, Gerardo ^{[1
]}

Caporusso, Concetta ^{[1
]}

Arezzo, Francesca ^{[2
]}

Cimmino, Antonietta ^{[1
]}

Colagrande, Anna ^{[1
]}

Loizzi, Vera ^{[2
]}

Cormio, Gennaro ^{[2
]}

Lettini, Teresa ^{[1
]}

Maiorano, Eugenio ^{[1
]}

Scarcella, Vincenza Sara ^{[1
]}

Tarantino, Paola ^{[1
]}

Marrone, Maricla ^{[3
]}

Stellacci, Alessandra ^{[3
]}

Parente, Paola ^{[4
]}

Romita, Paolo ^{[5
]}

De Marco, Aurora ^{[5
]}

Venerito, Vincenzo ^{[6
]}

Foti, Caterina ^{[5
]}

Ingravallo, Giuseppe ^{[1
]}

Rossi, Roberta ^{[1
]}

Resta, Leonardo ^{[1
]}

机构：

[1] Univ Bari Aldo Moro, Sect Mol Pathol, Dept Emergency & Organ Transplantat DETO, I-70124 Bari, Italy

[2] Univ Bari Aldo Moro, Sect Ginecol & Obstet, Dept Biomed Sci & Oncol DIMO, I-70124 Bari, Italy

[3] Univ Bari Aldo Moro, Sect Legal Med, Interdisciplinary Dept Med, Bari Policlin Hosp, Piazza Giulio Cesare 11, I-70124 Bari, Italy

[4] Fdn IRCCS Casa Sollievo Sofferenza, UOC Anat Patol, I-71013 San Giovanni Rotondo, Italy

[5] Univ Bari Aldo Moro, Sect Rheumatol, Dept Emergency & Organ Transplantat DETO, I-70124 Bari, Italy

[6] Univ Bari Aldo Moro, Sect Reumathol, Dept Biomed Sci & Human Oncol, Piazza Giulio Cesare 11, I-70124 Bari, Italy

来源：

GENES | 2021年 / 12卷 / 10期

关键词：

NGS; FFPE; PCR; DNA; RNA; CELL LUNG-CANCER; DNA EXTRACTION; FORMALDEHYDE; ARTIFACTS; FIXATION; AMPLIFICATION; BIOPSIES; FROZEN; TISSUE; FFPE;

D O I：

10.3390/genes12101472

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.</p>

引用

页数：8

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