ALK Fusion and Its Association with Other Driver Gene Mutations in Finnish Non-Small Cell Lung Cancer Patients

作者: Katja Tuononen , Mia Kero , Satu Mäki-Nevala , Virinder Kaur Sarhadi , Milja Tikkanen

DOI: 10.1002/GCC.22198

关键词: ImmunohistochemistryAnaplastic lymphoma kinaseFluorescence in situ hybridizationBioinformaticsCarcinomaLung cancerCancer researchBiologyGene mutationAnaplastic LymphomaFusion gene

摘要: Screening of anaplastic lymphoma tyrosine kinase (ALK) gene fusions in non-small cell lung cancer (NSCLC) patients enables the identification likely to benefit from ALK-targeted therapy. Our aim was assess prevalence ALK fusion Finnish NSCLC patients, which has not been reported earlier, and study presence relation clinicopathological characteristics other driver mutations. A total 469 formalin-fixed paraffin-embedded tumor tissue specimens were screened for by immunohistochemistry (IHC). For confirmation IHC results, fluorescence situ hybridization (FISH) conducted 171 specimens. Next-generation sequencing performed all ALK-positive characterize association with mutations targeted regions 22 genes. Of tumors screened, 11 (2.3%) harbored an fusion, including nine adenocarcinomas two large carcinomas. The results 160 random ALK-negative confirmed FISH. significantly associated never/ex-light smoking history (P<0.001) younger age (P=0.004). Seven showed additional mutations; three MET, one MET CTNNB1, TP53, PIK3CA. show that is infrequent alteration patients. Although majority cases adenocarcinomas, also seen Further studies are needed elucidate clinical significance coexistence PIK3CA

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