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EGFR

Interpretations

By Variant(s)

EGFR L858R

EGFR P546S

EGFR S492R

EGFR T790M

EGFR T854A

EGFR A289V

EGFR A289D

EGFR G598V

EGFR P596L

EGFR codon(s) 289, 596, 598 any

EGFR exon(s) 18, 19, 20, 21 any

EGFR E746_A750delinsI

EGFR exon(s) 19 deletion

EGFR codon(s) 790 any

EGFR exon(s) 20 any

EGFR H773L

EGFR V774M

EGFR D761N

EGFR D761Y

EGFR codon(s) 761 any

EGFR G863D

EGFR P753S

EGFR L861Q

EGFR codon(s) 861 any

EGFR E709K

EGFR exon(s) 20 insertion

EGFR copy number gain

EGFR E746_A750del

EGFR S768I

EGFR G724S

EGFR R776H

EGFR any missense

EGFR K745_E746insIPVAIK

EGFR E709_T710delinsD

EGFR exon(s) 18 indel

EGFR exon(s) 18 deletion

EGFR L747P

EGFR V769L

EGFR R108K

EGFR L861R

EGFR L747_T751delinsS

EGFR A750P

EGFR A763_Y764insFQEA

EGFR G719A

EGFR G719C

EGFR G719D

EGFR G719S

EGFR L833V

EGFR copy number loss

EGFR any mutation

EGFR G721S

EGFR K757M

EGFR V765M

By Tumor

  • Acinar Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Acinic Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Acute Myeloid Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Adenocarcinoma
    • EGFR L858R, EGFR exon(s) 18, 19, 20, 21 any
    • EGFR E746_A750delinsI, EGFR exon(s) 19 deletion, EGFR E746_A750del
    • EGFR codon(s) 790 any
    • EGFR exon(s) 20 any
    • EGFR exon(s) 20 insertion
    • EGFR H773L, EGFR V774M
    • EGFR D761N, EGFR D761Y, EGFR codon(s) 761 any
    • EGFR G863D
    • EGFR L861Q, EGFR codon(s) 861 any
    • EGFR E709K
    • EGFR S768I, EGFR G724S
    • EGFR R776H
    • EGFR K745_E746insIPVAIK
    • EGFR E709_T710delinsD, EGFR exon(s) 18 indel, EGFR exon(s) 18 deletion
    • EGFR copy number gain
    • EGFR T790M
    • EGFR L747P
    • EGFR copy number gain
    • EGFR S768I, EGFR V769L
    • EGFR L861R
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
    • EGFR V765M
    • EGFR K757M
    • EGFR G721S
  • Adenoid Cystic Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Adenosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ameloblastic Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Anaplastic Large Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Angioimmunoblastic T-Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Angiomatoid Fibrous Histiocytoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Angiomatosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Angiomyolipoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Angiosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Astrocytoma, Anaplastic
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Atypical Chronic Myeloid Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • B Lymphoblastic Leukemia/Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Basal Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Burkitt Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Carcinoid Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Carcinoma
    • EGFR copy number gain
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Carcinosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Cholangiocarcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chondrosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chordoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Choriocarcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chromophobe Renal Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chronic Lymphocytic Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chronic Myeloid Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chronic Myelomonocytic Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Chronic Neutrophilic Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Classical Hodgkin Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Clear Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Clear Cell Renal Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Craniopharyngioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Dermatofibrosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Desmoplastic Small Round Cell Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Diffuse Large B Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ductal Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ependymoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Essential Thrombocythemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ewing Sarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Fibromatosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Follicular Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Follicular Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Gastrointestinal Stromal Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Germ Cell Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Giant Cell Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Glioblastoma
    • EGFR A289V, EGFR A289D, EGFR G598V, EGFR P596L, EGFR codon(s) 289, 596, 598 any
    • EGFR exon(s) 20 insertion
    • EGFR E709K
    • EGFR copy number gain
    • EGFR V774M
    • EGFR R108K
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Glomus Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Granular Cell Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Hairy Cell Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Hemangioendothelioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Hepatocellular Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Histiocytic and Dendritic Cell Neoplasms
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Invasive Ductal Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Kaposi Sarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Langerhans Cell Histiocytosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Leiomyoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Leiomyosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Lipoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Liposarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Lobular Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Lymphoplasmacytic Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Malignant Mullerian Mixed Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mantle Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Marginal Zone B Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mast Cell Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • MDS with Ring Sideroblasts
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Medullary Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Medulloblastoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Melanoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Meningioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Merkel Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mesothelioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mucinous Tumors of Appendix
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mucinous Tumors of Ovary
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mucoepidermoid Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Myelodysplastic Syndrome
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Myeloproliferative Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Myxofibrosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Nasopharyngeal Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Neuroblastoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Neuroendocrine Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Neuroendocrine Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • NK Cell Lymphoproliferative Disorder
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • NLPHL
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Non-Small Cell Lung Carcinoma
    • EGFR E709_T710delinsD, EGFR exon(s) 18 indel, EGFR exon(s) 18 deletion
    • EGFR L747P
    • EGFR S768I, EGFR V769L
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
    • EGFR E709K
    • EGFR A750P
    • EGFR A763_Y764insFQEA
    • EGFR G719A
    • EGFR G719C
    • EGFR G719S
    • EGFR G719D
  • Oligodendroglioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Osteosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Papillary Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Papillary Renal Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Peripheral T Cell Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Pheochromocytoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Plasma Cell Disorder
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Polycythemia Vera
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Post-Transplant Lymphoproliferative Disorder
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Primary Myelofibrosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Primitive Neuroectodermal Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Renal Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Reninoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Retinoblastoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Rhabdomyosarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Sarcoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Schwannoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Serous Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Sex Cord Stromal Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Small Cell Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Solid Pseudopapillary Tumor of Pancreas
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Spindle Cell Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Squamous Cell Carcinoma
    • EGFR P753S
    • EGFR S768I, EGFR G724S
    • EGFR T790M
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • T Cell Lymphoproliferative Disorder
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • T Lymphoblastic Leukemia/Lymphoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • T-Cell LGL Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Thymic Carcinoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Thymoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Urothelial Carcinoma
    • EGFR copy number gain
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Tumors of Peripheral Nerves
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Unknown
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Wilms Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ependymoma, Anaplastic
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Astrocytoma, Pilocytic
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Ganglioglioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Neuroepithelial Neoplasm, NOS
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Pleomorphic Carcinoma
    • EGFR K745_E746insIPVAIK
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Solitary Fibrous Tumor
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Neuroepithelial neoplasm, high grade
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Leukocytosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Thrombocytosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Monocytosis
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Cytopenia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Other Acute Leukemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Astrocytoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Acute Leukemia of Unspecified Cell Type
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Anemia, Unspecified
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Astrocytoma, Diffusely Infiltrating
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Diffuse Midline Glioma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Infiltrating Glioma, NOS
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Intraductal Papillary Mucinous Neoplasm (IPMN)
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Leukopenia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Lymphadenopathy
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Lymphocytosis, Symptomatic
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Monoclonal Gammopathy
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mucinous or Serous Cystic Neoplasms of Pancreas
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Mycosis Fungoides, Unspecified Site
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Oligodendroglioma, Anaplastic
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Pleomorphic Xanthoastrocytoma
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Rash and Other Nonspecific Skin Eruption
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Thrombocytopenia, Unspecified
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Eosinophilia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Myelodysplastic/Myeloproliferative Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Myeloid Neoplasm
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Polycythemia
    • EGFR copy number gain, EGFR copy number loss
    • EGFR any mutation
  • Information
  • View History
  • Suggested Revisions
Interpretation 400
Variant(s)EGFR S768I
EGFR V769L
Tumor(s)Adenocarcinoma
Non-Small Cell Lung Carcinoma
Tissue(s)Lung
Tier1
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR tyrosine kinase inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. EGFR S768I (exon 20) occurs in 1–2% of EGFR mutant lung cancers and is often coincident with other EGFR mutations. S768I and V769L have previously been identified in the same NSCLC tumors. There are conflicting data regarding the sensitivity to EGFR-TKIs of tumors harboring S768I and V769L mutations. Correlation with other clinical and laboratory findings is necessary.

Citations

Sequist LV, et al. First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. J Clin Oncol 2008;26(15):2442-9

Pao W, et al. EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A 2004;101(36):13306-11

Pirker R Third-generation epidermal growth factor receptor tyrosine kinase inhibitors in advanced nonsmall cell lung cancer. Curr Opin Oncol 2016;28(2):115-21

Arcila ME, et al. EGFR exon 20 insertion mutations in lung adenocarcinomas: prevalence, molecular heterogeneity, and clinicopathologic characteristics. Mol Cancer Ther 2013;12(2):220-9

Hellmann MD, et al. Clinical and in vivo evidence that EGFR S768I mutant lung adenocarcinomas are sensitive to erlotinib. J Thorac Oncol 2014;9(10):e73-4

Heigener DF, et al. Afatinib in Non-Small Cell Lung Cancer Harboring Uncommon EGFR Mutations Pretreated With Reversible EGFR Inhibitors. Oncologist 2015;20(10):1167-74

Improta G, et al. Epidermal growth factor receptor exon 20 p.S768I mutation in non-small cell lung carcinoma: A case report combined with a review of the literature and investigation of clinical significance. Oncol Lett 2016;11(1):393-398

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