Detection of clinically relevant epidermal growth factor receptor pathway mutations in circulating cell-free tumor DNA using next generation sequencing in squamous cell carcinoma lung

Kanakasetty Babu Govind; Deepak Koppaka; Lokanatha Dasappa; Linu Abraham Jacob; Suresh M.C. Babu; N. Kadabur Lokesh; Rudresha Antapura Haleshappa; L.K. Rajeev; Smitha Carol Saldanha; Anand Abhishek; Vikas Asati; R. Chethan; Vedam Laxmi Ramprasad

doi:10.4103/sajc.sajc_281_18

South Asian Journal of Cancer, Inhaltsverzeichnis

CC BY-NC-ND 4.0 · South Asian J Cancer 2019; 08(04): 247-249
DOI: 10.4103/sajc.sajc_281_18

ORIGINAL ARTICLE: Lung Cancers

Detection of clinically relevant epidermal growth factor receptor pathway mutations in circulating cell-free tumor DNA using next generation sequencing in squamous cell carcinoma lung

Kanakasetty Babu Govind

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Deepak Koppaka

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Lokanatha Dasappa

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Linu Abraham Jacob

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Suresh M.C. Babu

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

N. Kadabur Lokesh

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Rudresha Antapura Haleshappa

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

L.K. Rajeev

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Smitha Carol Saldanha

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Anand Abhishek

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Vikas Asati

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

R. Chethan

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka

,

Vedam Laxmi Ramprasad

Medgenome Labs, Bommasandra, Bangalore, Karnataka

› Institutsangaben

Abstract

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Abstract

Background: Limited repertoires of targets are available in the management of squamous cell carcinoma lung. In this study, we analyzed epidermal growth factor receptor (EGFR), RAS, BRAF mutations in lung cancer patients of squamous cell histology using next-generation sequencing (NGS) on the circulating cell-free DNA (cf-DNA). Materials and Methods: In this prospective observational study, patients with squamous cell carcinoma lung, either newly diagnosed or having a progressive disease on prior therapy were eligible. Cf-DNA was extracted from peripheral blood and analyzed for EGFR, KRAS, NRAS, and BRAF mutations using NGS. Results: Sixteen patients were enrolled over a period of 1 month. The mean cf-DNA quantity extracted from the plasma was 96.5 ng (range, 15–200 ng). Eight clinically relevant mutations in the EGFR pathway were identified. These include Exon 21 mutations in 4 patients, Exon 20 mutation in onepatient, complex mutations with coexisting Exon 21 and Exon18 in one patient and KRAS Exon 2 mutations in two patients. Conclusion: cf-DNA is a minimally invasive technique for detection of clinically relevant mutations in lung cancer patients. The use of novel advanced techniques such as NGS may help in detecting EGFR pathway mutations in patients with squamous cell carcinoma lung.

Key words

Circulating cell-free DNA - epidermal growth factor receptor mutations - KRAS - next-generation sequencing - squamous cell carcinoma lung

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Referenzen

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