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EGFR Exon 21 Mutation

MedGen UID:
927186
•Concept ID:
C4289654
•
Cell or Molecular Dysfunction
Synonyms: EGFR Exon 21 Gene Mutation; Epidermal Growth Factor Receptor Gene Exon 21 Mutation; ERBB Exon 21 Mutation; ERBB1 Exon 21 Mutation; HER1 Exon 21 Mutation

Definition

A molecular genetic abnormality indicating the presence of a mutation in exon 21 of the EGFR gene. [from NCI]

Professional guidelines

PubMed

Predictive Value of EGFR Mutation Status for First-Line Tyrosine Kinase Inhibitor Treatment in Patients with Advanced Lung Cancer.
Xie Y, Chen J, Zhu W, Ye Z, Lv X
Altern Ther Health Med 2024 Aug;30(8):295-299. PMID: 38064607

Recent clinical studies

Etiology

Identification of TCR rearrangements specific for genetic alterations in EGFR-mutated non-small cell lung cancer: results from the ADJUVANT-CTONG1104 trial.
Chen C, Liu SM, Chen Y, Ou Q, Bao H, Xu L, Zhang Y, Zhang JT, Zhong W, Zhou Q, Yang XN, Shao Y, Wu YL, Liu SY, Li Y
Cancer Immunol Immunother 2023 May;72(5):1261-1272. Epub 2022 Nov 24 doi: 10.1007/s00262-022-03330-1. PMID: 36427086Free PMC Article
Association of Driver Oncogene Variations With Outcomes in Patients With Locally Advanced Non-Small Cell Lung Cancer Treated With Chemoradiation and Consolidative Durvalumab.
Liu Y, Zhang Z, Rinsurongkawong W, Gay CM, Le X, Ning MS, Lewis J, Rinsurongkawong V, Lee JJ, Roth J, Swisher S, Gandhi S, Lee PP, Gibbons DL, Vaporciyan AA, Heymach JV, Zhang J, Lin SH
JAMA Netw Open 2022 Jun 1;5(6):e2215589. doi: 10.1001/jamanetworkopen.2022.15589. PMID: 35666500Free PMC Article
Intratumoral heterogeneity of EGFR-activating mutations in advanced NSCLC patients at the single-cell level.
Guo L, Chen Z, Xu C, Zhang X, Yan H, Su J, Yang J, Xie Z, Guo W, Li F, Wu Y, Zhou Q
BMC Cancer 2019 Apr 23;19(1):369. doi: 10.1186/s12885-019-5555-y. PMID: 31014278Free PMC Article
Clinicoradiological features associated with epidermal growth factor receptor exon 19 and 21 mutation in lung adenocarcinoma.
Zhao FN, Zhao YQ, Han LZ, Xie YS, Liu Y, Ye ZX
Clin Radiol 2019 Jan;74(1):80.e7-80.e17. Epub 2018 Oct 26 doi: 10.1016/j.crad.2018.10.001. PMID: 30591175
Risk for molecular contamination of tissue samples evaluated for targeted anti-cancer therapy.
Asor E, Stav MY, Simon E, Fahoum I, Sabo E, Ben-Izhak O, Hershkovitz D
PLoS One 2017;12(3):e0173760. Epub 2017 Mar 13 doi: 10.1371/journal.pone.0173760. PMID: 28288198Free PMC Article

Diagnosis

Predictive Value of EGFR Mutation Status for First-Line Tyrosine Kinase Inhibitor Treatment in Patients with Advanced Lung Cancer.
Xie Y, Chen J, Zhu W, Ye Z, Lv X
Altern Ther Health Med 2024 Aug;30(8):295-299. PMID: 38064607
Clinicoradiological features associated with epidermal growth factor receptor exon 19 and 21 mutation in lung adenocarcinoma.
Zhao FN, Zhao YQ, Han LZ, Xie YS, Liu Y, Ye ZX
Clin Radiol 2019 Jan;74(1):80.e7-80.e17. Epub 2018 Oct 26 doi: 10.1016/j.crad.2018.10.001. PMID: 30591175
Is MPP a good prognostic factor in stage III lung adenocarcinoma with EGFR exon 19 mutation?
Zhang T, Wang J, Su Y, Chen X, Yan Q, Li Q, Sun L, Wang Y, Er P, Pang Q, Wang P
Oncotarget 2017 Jun 20;8(25):40594-40605. doi: 10.18632/oncotarget.16505. PMID: 28380449Free PMC Article
Risk for molecular contamination of tissue samples evaluated for targeted anti-cancer therapy.
Asor E, Stav MY, Simon E, Fahoum I, Sabo E, Ben-Izhak O, Hershkovitz D
PLoS One 2017;12(3):e0173760. Epub 2017 Mar 13 doi: 10.1371/journal.pone.0173760. PMID: 28288198Free PMC Article
Morphological and genetic heterogeneity in multifocal lung adenocarcinoma: The case of a never-smoker woman.
Bonanno L, Calabrese F, Nardo G, Calistri D, Tebaldi M, Tedaldi G, Polo V, Vuljan S, Favaretto A, Conte P, Amadori A, Rea F, Indraccolo S
Lung Cancer 2016 Jun;96:52-5. Epub 2016 Mar 25 doi: 10.1016/j.lungcan.2016.03.009. PMID: 27133750

Therapy

Predictive Value of EGFR Mutation Status for First-Line Tyrosine Kinase Inhibitor Treatment in Patients with Advanced Lung Cancer.
Xie Y, Chen J, Zhu W, Ye Z, Lv X
Altern Ther Health Med 2024 Aug;30(8):295-299. PMID: 38064607
Identification of TCR rearrangements specific for genetic alterations in EGFR-mutated non-small cell lung cancer: results from the ADJUVANT-CTONG1104 trial.
Chen C, Liu SM, Chen Y, Ou Q, Bao H, Xu L, Zhang Y, Zhang JT, Zhong W, Zhou Q, Yang XN, Shao Y, Wu YL, Liu SY, Li Y
Cancer Immunol Immunother 2023 May;72(5):1261-1272. Epub 2022 Nov 24 doi: 10.1007/s00262-022-03330-1. PMID: 36427086Free PMC Article
Effectiveness of osimertinib in patients with lung adenocarcinoma in clinical practice - the Expanded Drug Access Program in Poland.
Knetki-Wróblewska M, Kowalski DM, Czyżewicz G, Bryl M, Wrona A, Dziadziuszko R, Kieszko R, Milanowski J, Świniuch D, Ramlau R, Krzakowski M
Adv Respir Med 2020;88(3):189-196. doi: 10.5603/ARM.2020.0130. PMID: 32706102
Morphological and genetic heterogeneity in multifocal lung adenocarcinoma: The case of a never-smoker woman.
Bonanno L, Calabrese F, Nardo G, Calistri D, Tebaldi M, Tedaldi G, Polo V, Vuljan S, Favaretto A, Conte P, Amadori A, Rea F, Indraccolo S
Lung Cancer 2016 Jun;96:52-5. Epub 2016 Mar 25 doi: 10.1016/j.lungcan.2016.03.009. PMID: 27133750

Prognosis

The Impact of Targetable Mutations on Clinical Outcomes of Metastatic Epidural Spinal Cord Compression in Patients With Non-Small-Cell Lung Cancer Treated With Hybrid Therapy (Surgery Followed by Stereotactic Body Radiation Therapy).
Chakravarthy VB, Schachner B, Amin AG, Reiner AS, Yamada Y, Schmitt A, Higginson DS, Laufer I, Bilsky MH, Barzilai O
Neurosurgery 2023 Mar 1;92(3):557-564. Epub 2022 Dec 8 doi: 10.1227/neu.0000000000002247. PMID: 36477376Free PMC Article
Identification of TCR rearrangements specific for genetic alterations in EGFR-mutated non-small cell lung cancer: results from the ADJUVANT-CTONG1104 trial.
Chen C, Liu SM, Chen Y, Ou Q, Bao H, Xu L, Zhang Y, Zhang JT, Zhong W, Zhou Q, Yang XN, Shao Y, Wu YL, Liu SY, Li Y
Cancer Immunol Immunother 2023 May;72(5):1261-1272. Epub 2022 Nov 24 doi: 10.1007/s00262-022-03330-1. PMID: 36427086Free PMC Article
Intratumoral heterogeneity of EGFR-activating mutations in advanced NSCLC patients at the single-cell level.
Guo L, Chen Z, Xu C, Zhang X, Yan H, Su J, Yang J, Xie Z, Guo W, Li F, Wu Y, Zhou Q
BMC Cancer 2019 Apr 23;19(1):369. doi: 10.1186/s12885-019-5555-y. PMID: 31014278Free PMC Article
Clinicoradiological features associated with epidermal growth factor receptor exon 19 and 21 mutation in lung adenocarcinoma.
Zhao FN, Zhao YQ, Han LZ, Xie YS, Liu Y, Ye ZX
Clin Radiol 2019 Jan;74(1):80.e7-80.e17. Epub 2018 Oct 26 doi: 10.1016/j.crad.2018.10.001. PMID: 30591175
Is MPP a good prognostic factor in stage III lung adenocarcinoma with EGFR exon 19 mutation?
Zhang T, Wang J, Su Y, Chen X, Yan Q, Li Q, Sun L, Wang Y, Er P, Pang Q, Wang P
Oncotarget 2017 Jun 20;8(25):40594-40605. doi: 10.18632/oncotarget.16505. PMID: 28380449Free PMC Article

Clinical prediction guides

Predictive Value of EGFR Mutation Status for First-Line Tyrosine Kinase Inhibitor Treatment in Patients with Advanced Lung Cancer.
Xie Y, Chen J, Zhu W, Ye Z, Lv X
Altern Ther Health Med 2024 Aug;30(8):295-299. PMID: 38064607
The Impact of Targetable Mutations on Clinical Outcomes of Metastatic Epidural Spinal Cord Compression in Patients With Non-Small-Cell Lung Cancer Treated With Hybrid Therapy (Surgery Followed by Stereotactic Body Radiation Therapy).
Chakravarthy VB, Schachner B, Amin AG, Reiner AS, Yamada Y, Schmitt A, Higginson DS, Laufer I, Bilsky MH, Barzilai O
Neurosurgery 2023 Mar 1;92(3):557-564. Epub 2022 Dec 8 doi: 10.1227/neu.0000000000002247. PMID: 36477376Free PMC Article
Clinicoradiological features associated with epidermal growth factor receptor exon 19 and 21 mutation in lung adenocarcinoma.
Zhao FN, Zhao YQ, Han LZ, Xie YS, Liu Y, Ye ZX
Clin Radiol 2019 Jan;74(1):80.e7-80.e17. Epub 2018 Oct 26 doi: 10.1016/j.crad.2018.10.001. PMID: 30591175
Comparison of reverse transcription-polymerase chain reaction, immunohistochemistry, and fluorescence in situ hybridization methodologies for detection of echinoderm microtubule-associated proteinlike 4-anaplastic lymphoma kinase fusion-positive non-small cell lung carcinoma: implications for optimal clinical testing.
Wallander ML, Geiersbach KB, Tripp SR, Layfield LJ
Arch Pathol Lab Med 2012 Jul;136(7):796-803. doi: 10.5858/arpa.2011-0321-OA. PMID: 22742552

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