Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel

被引：55

作者：

de Biase, Dario ^{[1
]}

Acquaviva, Giorgia ^{[2
]}

Visani, Michela ^{[2
]}

Sanza, Viviana ^{[2
]}

Argento, Chiara M. ^{[1
]}

De Leo, Antonio ^{[2
]}

Maloberti, Thais ^{[1
]}

Pession, Annalisa ^{[1
]}

Tallini, Giovanni ^{[2
]}

机构：

[1] Univ Bologna, Dept Pharm & Biotechnol, Mol Diagnost Unit, Viale Ercolani 4-2, I-40138 Bologna, Italy

[2] Univ Bologna, Dept Med, Dipartimento Med Specialist Diagnost & Sperimenta, Mol Diagnost Unit,Azienda USL Bologna, Viale Ercolani 4-2, I-40138 Bologna, Italy

来源：

DIAGNOSTICS | 2020年 / 10卷 / 04期

关键词：

next generation sequencing; multi-gene custom panel; solid tumor; mutational analysis; CLINICAL-PRACTICE GUIDELINES; THYROID ASSOCIATION GUIDELINES; WORLD-HEALTH-ORGANIZATION; OF-AMERICAN-PATHOLOGISTS; KRAS MUTATIONS; GENETIC ALTERATIONS; RING TRIAL; CANCER; EGFR; REPRODUCIBILITY;

D O I：

10.3390/diagnostics10040250

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Next generation sequencing (NGS) allows parallel sequencing of multiple genes at a very high depth of coverage. The need to analyze a variety of targets for diagnostic/prognostic/predictive purposes requires multi-gene characterization. Multi-gene panels are becoming standard approaches for the molecular analysis of solid lesions. We report a custom-designed 128 multi-gene panel engineered to cover the relevant targets in 22 oncogene/oncosuppressor genes for the analysis of the solid tumors most frequently subjected to routine genotyping. A total of 1695 solid tumors were analyzed for panel validation. The analytical sensitivity is 5%. Analytical validation: (i) Accuracy: sequencing results obtained using the multi-gene panel are concordant using two different NGS platforms and single-gene approach sequencing (100% of 83 cases); (ii) Precision: consistent results are obtained in the samples analyzed twice with the same platform (100% of 20 cases). Clinical validation: the frequency of mutations identified in different tumor types is consistent with the published literature. This custom-designed multi-gene panel allows to analyze with high sensitivity and throughput 22 oncogenes/oncosuppressor genes involved in diagnostic/prognostic/predictive characterization of central nervous system tumors, non-small-cell lung carcinomas, colorectal carcinomas, thyroid nodules, pancreatic lesions, melanoma, oral squamous carcinomas and gastrointestinal stromal tumors.

引用

页数：17

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