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

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ORIGINAL ARTICLE: Lung Cancers

08 (

); 247-249

doi:

10.4103/sajc.sajc_281_18

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 Govind¹, Deepak Koppaka^1,, Lokanatha Dasappa¹, Linu Abraham Jacob¹, Suresh M.C. Babu¹, N. Kadabur Lokesh¹, Rudresha Antapura Haleshappa¹, L.K. Rajeev^1,, Smitha Carol Saldanha¹, Anand Abhishek¹, Vikas Asati¹, R. Chethan¹, Vedam Laxmi Ramprasad²

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

2 Medgenome Labs, Bommasandra, Bangalore, Karnataka

*Corresponding author: Prof. Deepak Koppaka. drdeepak.koppaka@gmail.com

Published: 2020-12-14

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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.

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References

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Drilon A, Rekhtman N, Ladanyi M, Paik P. Squamous-cell carcinomas of the lung: Emerging biology, controversies, and the promise of targeted therapy. Lancet Oncol 2012;13:e418-26.
Boch C, Kollmeier J, Roth A, Stephan-Falkenau S, Misch D, Grüning W, et al. The frequency of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC): Routine screening data for central Europe from a cohort study. BMJ Open 2013;3. pii: e002560.
Chou TY, Chiu CH, Li LH, Hsiao CY, Tzen CY, Chang KT, et al. Mutation in the tyrosine kinase domain of epidermal growth factor receptor is a predictive and prognostic factor for gefitinib treatment in patients with non-small cell lung cancer. Clin Cancer Res 2005;11:3750-7.
Malik PS, Sharma MC, Mohanti BK, Shukla NK, Deo S, Mohan A, et al. Clinico-pathological profile of lung cancer at AIIMS: A changing paradigm in India. Asian Pac J Cancer Prev 2013;14:489-94.
Noronha V, Dikshit R, Raut N, Joshi A, Pramesh CS, George K, et al. Epidemiology of lung cancer in India: Focus on the differences between non-smokers and smokers: A single-centre experience. Indian J Cancer 2012;49:74-81.
Noronha V, Pinninti R, Patil VM, Joshi A, Prabhash K. Lung cancer in the Indian subcontinent. South Asian J Cancer 2016;5:95-103.
Chiu CH, Chou TY, Chiang CL, Tsai CM. Should EGFR mutations be tested in advanced lung squamous cell carcinomas to guide frontline treatment? Cancer Chemother Pharmacol 2014;74:661-5.
Kasana BA, Dar WR, Aziz SA, Lone AR, Sofi NU, Dar IA, et al. Epidermal growth factor receptor mutation in adenocarcinoma lung in a North Indian population: Prevalence and relation with different clinical variables. Indian J Med Paediatr Oncol 2016;37:189-95.
Prabhakar CN. Epidermal growth factor receptor in non-small cell lung cancer. Transl Lung Cancer Res 2015;4:110-8.
Malik PS, Raina V. Lung cancer: Prevalent trends & emerging concepts. Indian J Med Res 2015;141:5-7.
Joshi A, Zanwar S, Noronha V, Patil VM, Chougule A, Kumar R, et al. EGFR mutation in squamous cell carcinoma of the lung: Does it carry the same connotation as in adenocarcinomas? Onco Targets Ther 2017;10:1859-63.
Cho S. 9092 POSTER efficacy of tyrosine kinase inhibitor for non-adenocarcinoma NSCLC patients with EGFR mutation. Eur J Cancer 2011;47:S620.
Roberts PJ, Stinchcombe TE. KRAS mutation: Should we test for it, and does it matter? J Clin Oncol 2013;31:1112-21.
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Sun JM, Hwang DW, Ahn JS, Ahn MJ, Park K. Prognostic and predictive value of KRAS mutations in advanced non-small cell lung cancer. PLoS One 2013;8:e64816.
Lu YQ, Lu KH. Advancements in next-generation sequencing for diagnosis and treatment of non-small-cell lung cancer. Chronic Dis Transl Med 2017;3:1-7.
Hata A, Katakami N, Kunimasa K, Yoshioka H, Fujita S, Kaji R, et al. Erlotinib for pretreated squamous cell carcinoma of the lung in Japanese patients. Jpn J Clin Oncol 2011;41:1366-72.
Lee Y, Shim HS, Park MS, Kim JH, Ha SJ, Kim SH, et al. High EGFR gene copy number and skin rash as predictive markers for EGFR tyrosine kinase inhibitors in patients with advanced squamous cell lung carcinoma. Clin Cancer Res 2012;18:1760-8.
Tseng JS, Yang TY, Chen KC, Hsu KH, Chen HY, Chang GC, et al. Retrospective study of erlotinib in patients with advanced squamous lung cancer. Lung Cancer 2012;77:128-33.
Chiang CL, Tsai CM, Chou TY, Chen YM, Lai SL, Shih JF, et al. Erlotinib in patients with advanced lung squamous cell carcinoma. Cancer Chemother Pharmacol 2013;71:203-8.

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[1] Dela Cruz CS, Tanoue LT, Matthay RA. Lung cancer: Epidemiology, etiology, and prevention. Clin Chest Med 2011;32:605-44.

[2] Drilon A, Rekhtman N, Ladanyi M, Paik P. Squamous-cell carcinomas of the lung: Emerging biology, controversies, and the promise of targeted therapy. Lancet Oncol 2012;13:e418-26.

[3] Boch C, Kollmeier J, Roth A, Stephan-Falkenau S, Misch D, Grüning W, et al. The frequency of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC): Routine screening data for central Europe from a cohort study. BMJ Open 2013;3. pii: e002560.

[4] Chou TY, Chiu CH, Li LH, Hsiao CY, Tzen CY, Chang KT, et al. Mutation in the tyrosine kinase domain of epidermal growth factor receptor is a predictive and prognostic factor for gefitinib treatment in patients with non-small cell lung cancer. Clin Cancer Res 2005;11:3750-7.

[5] Malik PS, Sharma MC, Mohanti BK, Shukla NK, Deo S, Mohan A, et al. Clinico-pathological profile of lung cancer at AIIMS: A changing paradigm in India. Asian Pac J Cancer Prev 2013;14:489-94.

[6] Noronha V, Dikshit R, Raut N, Joshi A, Pramesh CS, George K, et al. Epidemiology of lung cancer in India: Focus on the differences between non-smokers and smokers: A single-centre experience. Indian J Cancer 2012;49:74-81.

[7] Noronha V, Pinninti R, Patil VM, Joshi A, Prabhash K. Lung cancer in the Indian subcontinent. South Asian J Cancer 2016;5:95-103.

[8] Chiu CH, Chou TY, Chiang CL, Tsai CM. Should EGFR mutations be tested in advanced lung squamous cell carcinomas to guide frontline treatment? Cancer Chemother Pharmacol 2014;74:661-5.

[9] Kasana BA, Dar WR, Aziz SA, Lone AR, Sofi NU, Dar IA, et al. Epidermal growth factor receptor mutation in adenocarcinoma lung in a North Indian population: Prevalence and relation with different clinical variables. Indian J Med Paediatr Oncol 2016;37:189-95.

[10] Prabhakar CN. Epidermal growth factor receptor in non-small cell lung cancer. Transl Lung Cancer Res 2015;4:110-8.

[11] Malik PS, Raina V. Lung cancer: Prevalent trends & emerging concepts. Indian J Med Res 2015;141:5-7.

[12] Joshi A, Zanwar S, Noronha V, Patil VM, Chougule A, Kumar R, et al. EGFR mutation in squamous cell carcinoma of the lung: Does it carry the same connotation as in adenocarcinomas? Onco Targets Ther 2017;10:1859-63.

[13] Cho S. 9092 POSTER efficacy of tyrosine kinase inhibitor for non-adenocarcinoma NSCLC patients with EGFR mutation. Eur J Cancer 2011;47:S620.

[14] Roberts PJ, Stinchcombe TE. KRAS mutation: Should we test for it, and does it matter? J Clin Oncol 2013;31:1112-21.

[15] Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012;489:519-25.

[16] Sun JM, Hwang DW, Ahn JS, Ahn MJ, Park K. Prognostic and predictive value of KRAS mutations in advanced non-small cell lung cancer. PLoS One 2013;8:e64816.

[17] Lu YQ, Lu KH. Advancements in next-generation sequencing for diagnosis and treatment of non-small-cell lung cancer. Chronic Dis Transl Med 2017;3:1-7.

[18] Hata A, Katakami N, Kunimasa K, Yoshioka H, Fujita S, Kaji R, et al. Erlotinib for pretreated squamous cell carcinoma of the lung in Japanese patients. Jpn J Clin Oncol 2011;41:1366-72.

[19] Lee Y, Shim HS, Park MS, Kim JH, Ha SJ, Kim SH, et al. High EGFR gene copy number and skin rash as predictive markers for EGFR tyrosine kinase inhibitors in patients with advanced squamous cell lung carcinoma. Clin Cancer Res 2012;18:1760-8.

[20] Tseng JS, Yang TY, Chen KC, Hsu KH, Chen HY, Chang GC, et al. Retrospective study of erlotinib in patients with advanced squamous lung cancer. Lung Cancer 2012;77:128-33.

[21] Chiang CL, Tsai CM, Chou TY, Chen YM, Lai SL, Shih JF, et al. Erlotinib in patients with advanced lung squamous cell carcinoma. Cancer Chemother Pharmacol 2013;71:203-8.

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

Abstract

Abstract

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