학술논문
Intragenic EGFR::EGFR .E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.
Document Type
Academic Journal
Author
Zheng L; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Luthra R; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Alvarez HA; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; San Lucas FA; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Duose DY; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Wistuba II; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Fuller GN; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Ballester LY; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Roy-Chowdhuri S; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Sweeney KJ; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Rashid A; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Yang RK; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Chen W; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Liu A; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Wu Y; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Albarracin C; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Patel KP; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Routbort MJ; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Sahin AA; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Ding Q; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Chen H; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Source
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
2072-6694
Abstract
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.