Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania ‘Luigi Vanvitelli’

ESMO Open

article

Vincenzo De Falco¹  Luca Poliero¹  Pietro Paolo Vitiello¹  Davide Ciardiello¹  Pasquale Vitale¹  Nicoletta Zanaletti¹  Emilio Francesco Giunta¹  Marinella Terminiello¹  Vincenza Caputo¹  Francesca Carlino¹  Raimondo Di Liello¹  Anna Ventriglia¹  Vincenzo Famiglietti¹  Erika Martinelli¹  Floriana Morgillo¹  Michele Orditura¹  Ferdinando De Vita¹  Morena Fasano¹  Stefania Napolitano¹  Giulia Martini¹  Carminia Maria Della Corte¹  Renato Franco²  Lucia Altucci¹  Fortunato Ciardiello¹  Teresa Troiani¹ 

[1] Medical Oncology, Department of Precision Medicine, Università degli Studi della Campania Luigi Vanvitelli;Department of Mental, Physical Health and Preventive Medicine, University of Campania Luigi Vanvitelli

关键词: next-generation sequencing;    NGS;    comprehensive genomic profiling;    CGP;    foundationone;   

DOI  :  10.1136/esmoopen-2020-000675

学科分类：社会科学、人文和艺术（综合）

来源: BMJ Publishing Group

【 摘 要 】

Background The emerging role of next-generation sequencing (NGS) targeted panels is revolutionising our approach to cancer patients, providing information on gene alterations helpful for diagnosis and clinical decision, in a short time and with acceptable costs.Materials and methods In this work, we evaluated the clinical application of FoundationOne CDx test, a hybrid capture-based NGS. This test identifies alterations in 324 genes, tumour mutational burden and genomic signatures as microsatellite instability. The decision to obtain the NGS assay for a particular patient was done according to investigator’s choice.Results Overall, 122 tumour specimens were analysed, of which 84 (68.85%) succeeded. The success rate was influenced by type of specimen formalin-fixed paraffin embedded (FFPE block vs FFPE slides), by origin of the sample (surgery vs biopsy) and by time of fixation (<5 years vs ≥5 years). The most frequent subgroups of effective reports derived from colorectal cancer (25 samples), non-small-cell lung cancer (16 samples), ovarian cancer (10 samples), biliary tract cancer (9 samples), breast cancer (7 samples), gastric cancer (7 samples). The most frequent alterations found in whole population referred to TP53 (45.9%), KRAS (19.6%) and APC (13.9%). Furthermore, we performed an analysis of patients in whom this comprehensive genomic profiling (CGP) had a relevance for the patient’s disease.Conclusions On our opinion, CGP could be proposed in clinical practice in order to select patients that could most benefit from the analysis proposed, like patients with good performance status without any available treatments or with unexpected resistance to a therapy.

【 授权许可】

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