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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

EGFR K745_E746insTPVAIK

EGFR K745_E746insVPVAIK

EGFR H773_V774delinsLM

EGFR E709_G719delins11

EGFR G796S

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
    • EGFR E709_G719delins11
    • EGFR R108K
  • 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, NOS
    • 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 126
Variant(s)EGFR exon(s) 20 insertion
Tumor(s)Adenocarcinoma
Tissue(s)Lung
Tier1
Interpretation

EGFR exon 20 insertion testing identifies a distinct subset of lung adenocarcinomas, accounting for at least 9% of all EGFR-mutated cases and by molecular modeling, are predicted to have potentially different effects on erlotinib binding. Studies show that in contrast to the more classic activating EGFR mutations, these insertions have been associated with de novo resistance to approved EGFR-TKIs (erlotinib and gefitinib). In a recent study, patients with advanced lung adenocarcinoma harboring exon 20 insertions demonstrated no response or partial response following treatment with TK inhibitors. Exon 20 insertion mutations in EGFR may be associated with clinical trials (https://clinicaltrials.gov/).

Citations

Arcila et al EGFR Exon 20 Insertion Mutations in Lung Adenocarcinomas: Prevalence, Molecular Heterogeneity, and Clinicopathologic Characteristics. Mol Cancer Ther; 12(2); 220–9.

Naidoo J, Sima CS, Rodriguez K, Busby N, Nafa K, Ladanyi M, Riely GJ, Kris MG, Arcila ME, Yu HA. Epidermal growth factor receptor exon 20 insertions in advanced lung adenocarcinomas: Clinical outcomes and response to erlotinib. Cancer. 2015 Sep 15;121(18):3212-20. doi: 10.1002/cncr.29493. Epub 2015 Jun 10. PubMed PMID: 26096453.

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