All EGFR mutations are (not) created equal: focus on uncommon EGFR mutations.


Journal

Journal of cancer research and clinical oncology
ISSN: 1432-1335
Titre abrégé: J Cancer Res Clin Oncol
Pays: Germany
ID NLM: 7902060

Informations de publication

Date de publication:
Apr 2023
Historique:
received: 22 10 2021
accepted: 18 04 2022
pubmed: 18 5 2022
medline: 22 3 2023
entrez: 17 5 2022
Statut: ppublish

Résumé

Most common EGFR mutations in NSCLC include del19 and exon 21 L858R. Approximately 10% of patients have uncommon EGFR mutations (indels, missense mutations involving G719, L861 and S768 codons, and exon 20 insertions) that do not respond to TKIs. Of 490 EGFR mutated NSCLC samples, 60 cases harboring uncommon/compound EGFR mutations were reviewed retrospectively, and 44 were included for survival analysis. Sixty (12.2%) patients with a median age of 63 years (25-84 years) had uncommon/compound EGFR mutations. Majority had no history of smoking (52; 86.7%). Most common major uncommon mutations (G719X in exon 18, L861Q in exon 21 and S768I in exon 20) were identified in 19 (31.7%) patients. 17 (28.3%) cases demonstrated exon 20 insertions. De novo T790M was observed in 7 (11.7%) cases and 9 cases exhibited compound/dual mutations. Among the 12 patients who received first-line EGFR TKI, 7 received afatinib. Median progression-free survival of patients following first-line afatinib was 8.13 months, irrespective of mutation type exhibited. Overall response rate to first-line afatinib therapy was 57.1%. The current study highlighted that rare/dual EGFR mutations are heterogeneous with distinct clinical features in a large Indian cohort of EGFR mutated patients with NSCLC.

Identifiants

pubmed: 35581383
doi: 10.1007/s00432-022-04033-x
pii: 10.1007/s00432-022-04033-x
doi:

Substances chimiques

Afatinib 41UD74L59M
Protein Kinase Inhibitors 0
ErbB Receptors EC 2.7.10.1
EGFR protein, human EC 2.7.10.1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1541-1549

Informations de copyright

© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Références

Brindel A, Althakfi W, Barritault M et al (2018) Uncommon EGFR mutations in lung adenocarcinomas: clinical features and response to tyrosine kinase inhibitors. Ann Oncol 29(suppl 8):2017–2018. https://doi.org/10.1093/annonc/mdy424
doi: 10.1093/annonc/mdy424
Chakravarty D, Gao J, Phillips S et al (2017) OncoKB: a precision oncology knowledge base. JCO Precis Oncol. (1):1–16. https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf
Chiu C-H et al (2015) Epidermal growth factor receptor tyrosine kinase inhibitor treatment response in advanced lung adenocarcinomas. J Thorac Oncol 10(5):793–799. https://doi.org/10.1097/JTO.0000000000000504
doi: 10.1097/JTO.0000000000000504 pubmed: 25668120
Kate S, Chougule A, Joshi A et al (2019) Outcome of uncommon EGFR mutation positive newly diagnosed advanced non-small cell lung cancer patients: a single center retrospective analysis. Lung Cancer Targets Ther 10:1–10
doi: 10.2147/LCTT.S181406
Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978–1980. https://doi.org/10.1093/bioinformatics/bty897
doi: 10.1093/bioinformatics/bty897 pubmed: 30376034
Kusnoor SV, Koonce TY, Levy MA, et al (2016) My cancer genome: evaluating an educational model to introduce patients and caregivers to precision medicine information. In: AMIA Jt Summits Transl Sci Proceedings. 2016:112–121. http://www.ncbi.nlm.nih.gov/pubmed/27570660%0A ; http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC5001739
Landrum MJ, Lee JM, Benson M et al (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46(D1):D1062–D1067. https://doi.org/10.1093/nar/gkx1153
doi: 10.1093/nar/gkx1153 pubmed: 29165669
Naidoo J, Rodriguez K, Busby N, Nafa K, Ladanyi M (2016) EGFR exon 20 insertions in advanced lung adenocarcinomas: clinical outcomes and response to erlotinib. J Cancer 121(18):3212–3220. https://doi.org/10.1002/cncr.29493.EGFR
doi: 10.1002/cncr.29493.EGFR
Network NCC. Non-small cell lung cancer (Version3.2020). https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf . Published 2020. Accessed 10 Apr 2020
Passaro A, Prelaj A, Bonanno L et al (2019) Activity of EGFR TKIs in caucasian patients with NSCLC harboring potentially sensitive uncommon EGFR mutations. Clin Lung Cancer 20(2):e186–e194. https://doi.org/10.1016/j.cllc.2018.11.005
doi: 10.1016/j.cllc.2018.11.005 pubmed: 30563752
Prabhash K, Advani SH, Batra U et al (2019) Biomarkers in non-small cell lung cancers: Indian Consensus Guidelines for molecular testing. Adv Ther 36(4):766–785. https://doi.org/10.1007/s12325-019-00903-y
doi: 10.1007/s12325-019-00903-y pubmed: 30864106
Richards LS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30.Standards
doi: 10.1038/gim.2015.30.Standards pubmed: 25741868 pmcid: 4544753
Sasaki H, Endo K, Takada M et al (2007) EGFR exon 20 insertion mutation in Japanese lung cancer. Lung Cancer 58(3):324–328
doi: 10.1016/j.lungcan.2007.06.024 pubmed: 17686547
Schwartz LH, Litière S, Vries E et al (2017) RECIST 1.1—update and clarification: from the RECIST Committee. Eur J Cancer. https://doi.org/10.1016/j.ejca.2016.03.081.RECIST
doi: 10.1016/j.ejca.2016.03.081.RECIST
Sousa AC, Silveira C, Janeiro A et al (2019) Detection of rare and novel EGFR mutations in NSCLC patients: implications for treatment-decision. Lung Cancer 2020(139):35–40. https://doi.org/10.1016/j.lungcan.2019.10.030
doi: 10.1016/j.lungcan.2019.10.030
Tate JG, Bamford S, Jubb HC et al (2019) COSMIC: the catalogue of somatic mutations in cancer. Nucleic Acids Res 47(D1):D941–D947. https://doi.org/10.1093/nar/gky1015
doi: 10.1093/nar/gky1015 pubmed: 30371878
Travis WD, Brambilla E, Nicholson AG et al (2015) The 2015 World Health Organization Classification of Lung Tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol 10(9):1243–1260. https://doi.org/10.1097/JTO.0000000000000630
doi: 10.1097/JTO.0000000000000630 pubmed: 26291008
Tu H, Ke E, Yang J et al (2017) A comprehensive review of uncommon EGFR mutations in patients with non-small cell lung cancer. Lung Cancer 114(November):96–102. https://doi.org/10.1016/j.lungcan.2017.11.005
doi: 10.1016/j.lungcan.2017.11.005 pubmed: 29173773
Vyse S (2019) Targeting EGFR exon 20 insertion mutations in non-small cell lung cancer. Signal Transduct Target Ther. https://doi.org/10.1038/s41392-019-0038-9
doi: 10.1038/s41392-019-0038-9 pubmed: 30854234 pmcid: 6405763
Wu JY, Yu CJ, Chang YC, Yang CH, Shih JY, Yang PC (2011) Effectiveness of tyrosine kinase inhibitors on “uncommon” epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Clin Cancer Res 17(11):3812–3821. https://doi.org/10.1158/1078-0432.CCR-10-3408
doi: 10.1158/1078-0432.CCR-10-3408 pubmed: 21531810
Yang JCH, Sequist LV, Mok TS, Schuler M (2015) Clinical activity of afatinib in patients with advanced non-small-cell lung cancer harbouring uncommon EGFR mutations: a combined post-hoc analysis of LUX-Lung 2, LUX-Lung 3, and LUX-Lung 6. Lancet Oncol 16(7):830–838
doi: 10.1016/S1470-2045(15)00026-1 pubmed: 26051236
Yang S, Mao S, Li X et al (2019) Uncommon EGFR mutations associate with lower incidence of T790M mutation after EGFR-TKI treatment in patients with advanced NSCLC. Lung Cancer. https://doi.org/10.1016/j.lungcan.2019.11.018
doi: 10.1016/j.lungcan.2019.11.018 pubmed: 32009824 pmcid: 6859466
Yang JC, Schuler M, Popat S et al (2020) Afatinib for the treatment of NSCLC harboring uncommon EGFR mutations: a database of 693 cases. J Thorac Oncol 15(5):803–815. https://doi.org/10.1016/j.jtho.2019.12.126
doi: 10.1016/j.jtho.2019.12.126 pubmed: 31931137
Yasuda H, Park E, Yun C-H et al (2014) Structural, biochemical and clinical characterization of epidermal growth factor receptor (EGFR) exon 20 insertion mutations in lung cancer. Sci Transl Med. https://doi.org/10.1126/scitranslmed.3007205.Structural
doi: 10.1126/scitranslmed.3007205.Structural
Yun J, Lee S, Kim S et al (2020) Antitumor activity of amivantamab ( JNJ-61186372), an EGFR—MET bispecific antibody, in diverse models of EGFR Exon 20 insertion—driven NSCLC. Cancer Discov. https://doi.org/10.1158/2159-8290.CD-20-0116
doi: 10.1158/2159-8290.CD-20-0116 pubmed: 32414908
Zhang T, Wan B, Zhao Y et al (2019) Treatment of uncommon EGFR mutations in non-small cell lung cancer : new evidence and treatment. Transl Lung Cancer Res 8(3):302–316. https://doi.org/10.21037/tlcr.2019.04.12
doi: 10.21037/tlcr.2019.04.12 pubmed: 31367543 pmcid: 6626855

Auteurs

Batra Ullas (B)

Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi, Delhi, 110085, India. ullasbatra@gmail.com.

Nathany Shrinidhi (N)

Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, Delhi, 110085, India.

Sharma Mansi (S)

Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi, Delhi, 110085, India.

Satya Narayan (S)

Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi, Delhi, 110085, India.

Jain Parveen (J)

Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi, Delhi, 110085, India.

Dhanda Surender (D)

Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, Delhi, 110085, India.

Jose T Joslia (JT)

Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi, Delhi, 110085, India.

Mehta Anurag (M)

Laboratory Services, Molecular Diagnostics and Transfusion Services, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, Delhi, 110085, India.

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