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03 June 2026 : Case report  China

High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review

Unusual or unexpected effect of treatment, Rare disease

Jing-Yao Luo BEF 1, Jie Xiang BF 2, Xian-liang Hong BF 1, Zhengrong Wang A 2*

DOI: 10.12659/AJCR.949630

Am J Case Rep 2026; 27:e949630

Table 3 Gene detection of targeted drugs for lung cancer in 2023.

ItemGene detection of targeted drugs for lung cancer
MethodThis test is based on the Illumina next-generation sequencing (NGS) platform, utilizing target region probe hybridization capture technology to detect DNA variations in the sample. The test can cover single-nucleotide variations (SNVs), short insertions or deletions (InDels), copy number variations (CNVs) of some genes, and gene fusions with breakpoints within the capture range of the product, across all exons of 16 genes closely related to the development and treatment of lung cancer. The reference genome used in the analysis pipeline is the human genome UCSChg19Feb.2009, and the variant nomenclature follows the guidelines of HGVS. ()
SpecimenBlood
ALK (−)BRAF (−)EGFR (+)ERBB (−)KRAS (−)MET (−)
NRAS (−)NTRK1 (−)NTRK2 (−)NTRK3 (−)PIK3CA (−)PTEN (−)
RB1 (−)RET (−)ROS1 (−)TP53 (−)
EGFR NM_005228.5 c.1658C>A.P.S553Y, exon 14 missense variation, variant allele frequency=0.45%
ALK (−)NTRK1 (−)NTRK2 (−)NTRK3 (−)RET (−)ROS1 (−)

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923