Molecular genetic profiling of small cell lung carcinoma in a Chinese cohort

Background: Small cell lung cancer (SCLC) has unique biology and chromosomal modifications; however, only a few studies have investigated the molecular map of SCLC. The present study aimed to evaluate the genomic aberrations in patients with SCLC in a Chinese cohort. Methods: Tumor samples of SCLC were prospectively collected from Zhejiang Cancer Hospital. A total of 5 genes [EGFR (epidermal growth factor receptor) E18, EGFR E19, EGFR E20, EGFR E21, KRAS (Kirsten rat sarcoma viral oncogene homolog) E2, BRAF E15, PTEN (phosphatase and tensin homolog deleted on chromosome ten) E5, PTEN E6, PTEN E8, PIK3CA (phosphatidylinositol 3-kinase/protein kinase B) E9, PIK3CA E20] were evaluated using direct sequencing. Results: Between November 2012 and November 2016, 30 SCLC patients were prospectively enrolled in the study. A total of 10 genomic aberrations were detected in 30 cases (33.3%): an EGFR mutation (n=6, E19, E21), a KRAS mutation (n=1, E2), PIK3CA mutations (n=1, E20), a PTEN mutation (n=2, E5, E8). No significant differences were detected in the characteristics of patients with and without genomic aberrations or patients with and without EGFR mutation. Conclusions: The genomic aberrations of SCLC occur, offering mutational data to clinicians might be helpful for assigning patients to appropriate clinical studies, especially the anti-EFGR and PIK3CA treatment. Moreover, whether the molecular genetic profile of the SCLC patients is correlated with the effect of anti-tumor treatment, necessitating further investigation.