Glioblastoma with novel EGFR mutations (T790M and exon 20 insertion) yet unresponsive to osimertinib: A case report
Issued Date
2023-07-01
Resource Type
ISSN
10452257
eISSN
10982264
Scopus ID
2-s2.0-85152274374
Pubmed ID
36994936
Journal Title
Genes Chromosomes and Cancer
Volume
62
Issue
7
Start Page
423
End Page
429
Rights Holder(s)
SCOPUS
Bibliographic Citation
Genes Chromosomes and Cancer Vol.62 No.7 (2023) , 423-429
Suggested Citation
Boongird A., Lekcharoensombat N., Jinawath A., Theparee T., Jittapiromsak N., Shuangshoti S., Thorner P.S., Teerapakpinyo C. Glioblastoma with novel EGFR mutations (T790M and exon 20 insertion) yet unresponsive to osimertinib: A case report. Genes Chromosomes and Cancer Vol.62 No.7 (2023) , 423-429. 429. doi:10.1002/gcc.23143 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/81590
Title
Glioblastoma with novel EGFR mutations (T790M and exon 20 insertion) yet unresponsive to osimertinib: A case report
Author's Affiliation
Other Contributor(s)
Abstract
Glioblastoma (GBM) is a high-grade adult-type IDH-wildtype diffuse glioma, commonly harboring epidermal growth factor receptor (EGFR) amplification. Here, we describe a case of a 49-year-old man with a GBM harboring a TERT promoter mutation. Despite surgical and chemoradiation therapy, the tumor recurred. At that time, comprehensive genomic profiling by next-generation sequencing identified two rare mutations in EGFR: T790M and an exon 20 insertion. Based on these findings, the patient elected to undergo off-label therapy with osimertinib, a third-generation EGFR tyrosine kinase inhibitor that has shown promising results in non-small cell lung carcinoma, including metastatic to brain, with exactly the same EGFR mutations. Moreover, the drug has excellent central nervous system penetration. Even so, no clinical response was observed, and the patient succumbed to the disease. The lack of response may be related to the specific nature of the EGFR mutations, and/or other unfavorable tumor biology overriding any benefit from osimertinib.