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Article

The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA

1
Division of Oncology/Hematology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, Seoul 02841, Korea
2
Cancer Research Institute, Korea University, Seoul 02841, Korea
3
Department of Internal Medicine, Korea University Guro Hospital, Seoul 08308, Korea
4
Macrogen, 254, Beotkkot-ro, Geumcheon-gu, Seoul 08511, Korea
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(8), 2642; https://doi.org/10.3390/jcm9082642
Received: 21 July 2020 / Revised: 11 August 2020 / Accepted: 12 August 2020 / Published: 14 August 2020
(This article belongs to the Special Issue Circulating Biomarkers as a Liquid Biopsy for Cancer)
Mutations in the EGFR gene downstream signaling pathways may cause receptor-independent pathway activation, making tumors unresponsive to EGFR inhibitors. However, the clinical significance of RAS, PIK3CA or PTEN mutations in NSCLC is unclear. In this study, patients who were initially diagnosed with NSCLC or experienced recurrence after surgical resection were enrolled, and blood samples was collected. Ultra-deep sequencing analysis of cfDNA using Ion AmpliSeq Cancer Hotspot Panel v2 with Proton platforms was conducted. RAS/PIK3CA/PTEN mutations were frequently detected in cfDNA in stage IV NSCLC (58.1%), and a high proportion of the patients (47.8%) with mutations had bone metastases at diagnosis. The frequency of RAS/PIK3CA/PTEN mutations in patients with activating EGFR mutation was 61.7%. The median PFS for EGFR-TKIs was 15.1 months in patients without RAS/PIK3CA/PTEN mutations, and 19.9 months in patients with mutations (p = 0.549). For patients with activating EGFR mutations, the overall survival was longer in patients without RAS/PIK3CA/PTEN mutations (53.8 months vs. 27.4 months). For the multivariate analysis, RAS/PIK3CA/PTEN mutations were independent predictors of poor prognosis in patients with activating EGFR mutations. In conclusion, RAS, PIK3CA and PTEN mutations do not hamper EGFR-TKI treatment outcome; however, they predict a poor OS when activating EGFR mutations coexist. View Full-Text
Keywords: lung cancer; cell-free DNA; sequencing; mutations lung cancer; cell-free DNA; sequencing; mutations
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MDPI and ACS Style

Chang, W.J.; Sung, J.S.; Lee, S.Y.; Kang, E.J.; Kwon, N.-J.; Kim, H.M.; Shin, S.W.; Choi, J.Y.; Choi, Y.J.; Kim, J.W.; Park, K.H.; Kim, Y.H. The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA. J. Clin. Med. 2020, 9, 2642. https://doi.org/10.3390/jcm9082642

AMA Style

Chang WJ, Sung JS, Lee SY, Kang EJ, Kwon N-J, Kim HM, Shin SW, Choi JY, Choi YJ, Kim JW, Park KH, Kim YH. The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA. Journal of Clinical Medicine. 2020; 9(8):2642. https://doi.org/10.3390/jcm9082642

Chicago/Turabian Style

Chang, Won Jin, Jae Sook Sung, Sung Yong Lee, Eun Joo Kang, Nak-Jung Kwon, Hae Mi Kim, Sang Won Shin, Jung Yoon Choi, Yoon Ji Choi, Ju Won Kim, Kyong Hwa Park, and Yeul Hong Kim. 2020. "The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA" Journal of Clinical Medicine 9, no. 8: 2642. https://doi.org/10.3390/jcm9082642

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