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- Title
Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.
- Authors
Zheng, Lan; Luthra, Rajyalakshmi; Alvarez, Hector A.; San Lucas, F. Anthony; Duose, Dzifa Y.; Wistuba, Ignacio I.; Fuller, Gregory N.; Ballester, Leomar Y.; Roy-Chowdhuri, Sinchita; Sweeney, Keith J.; Rashid, Asif; Yang, Richard K.; Chen, Wei; Liu, Audrey; Wu, Yun; Albarracin, Constance; Patel, Keyur P.; Routbort, Mark J.; Sahin, Aysegul A.; Ding, Qingqing
- Abstract
Simple Summary: Epidermal growth factor receptor variant III (EGFRvIII) is caused by the deletion of six exons and the fusion of exons 1 to exon 8. EGFRvIII occurs frequently in glioblastoma, a type of high-grade brain tumor; however, its presence in other solid tumors is not well characterized. Upon reviewing 4331 solid tumor cases tested via the 610-gene sequencing platform, EGFRvIII was identified in 17 cases, including 16 brain tumors and one breast tumor. EGFRvIII-positive brain tumors were all glioblastoma with wild-type IDH1/2 status, most with EGFR amplification and EGFR mutation. The only EGFRvIII-positive breast lesion was in a young female patient. A separate breast case tested outside our institution with reported EGFRvIII was noted in a young female patient. Both EGFRvIII-positive breast tumors showed high-grade sarcomatoid morphology. In summary, EGFRvIII is rare, occurring primarily in glioblastoma and rarely in breast sarcomatoid neoplasm. This select group of patients may benefit from chemotherapy and/or targeted anti-EGFR therapy. Epidermal growth factor receptor variant III (EGFRvIII, the deletion of exons 2–7) is a recurrent intragenic EGFR::EGFR.E1E8 fusion that occurs in high-grade gliomas. The presence of EGFRvIII in other solid tumors has not been well characterized. We retrospectively reviewed advanced malignant solid tumor cases tested by a custom hybrid capture 610-gene next-generation sequencing platform from 2021 to 2022. EGFRvIII was identified in 17 of 4331 (0.4%) cases, including 16 of 238 (7%) brain tumors and 1/301 (0.3%) breast tumors. EGFRvIII-positive brain tumors were all glioblastoma IDH-wildtype, most with concurrent TERT promoter mutation (14 of 16), EGFR amplification (13 of 16), and EGFR mutation (8 of 16). The only EGFRvIII-positive breast lesion was a sarcomatoid neoplasm in a young female patient. A separate breast case tested outside our institution with reported EGFRvIII was noted in a young female patient with a malignant phyllodes tumor with stromal overgrowth. Microscopically, both EGFRvIII-positive breast tumors showed high-grade sarcomatoid morphology with brisk mitotic activity. In summary, EGFRvIII is rare, occurring primarily in glioblastoma and rarely in breast sarcomatoid neoplasm, with no instances identified in other tumor types in our series. This select group of patients may benefit from chemotherapy and/or targeted anti-EGFR therapy.
- Subjects
GENETIC mutation; SEQUENCE analysis; EPIDERMAL growth factor receptors; CANCER relapse; RETROSPECTIVE studies; GLIOMAS; GENES; DESCRIPTIVE statistics; TUMORS
- Publication
Cancers, 2024, Vol 16, Issue 1, p6
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16010006