Wang Zeng, Jiang Zhiming, Lu Hongyang
Department of Pharmacy, Zhejiang Cancer Hospital, Hangzhou 310022, China.
Zhejiang Key Laboratory of Diagnosis & Treatment Technology on Thoracic Oncology (Lung and Esophagus), Zhejiang Cancer Hospital, Hangzhou 310022, China.
Transl Cancer Res. 2019 Feb;8(1):255-261. doi: 10.21037/tcr.2019.01.26.
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.
Tumor samples of SCLC were prospectively collected from Zhejiang Cancer Hospital. A total of 5 genes [ (epidermal growth factor receptor) E18, E19, E20, E21, (Kirsten rat sarcoma viral oncogene homolog) E2, E15, (phosphatase and tensin homolog deleted on chromosome ten) E5, E6, E8, (phosphatidylinositol 3-kinase/protein kinase B) E9, E20] were evaluated using direct sequencing.
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 mutation (n=6, E19, E21), a mutation (n=1, E2), mutations (n=1, E20), a 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 mutation.
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.
小细胞肺癌（SCLC）具有独特的生物学特性和染色体修饰；然而，仅有少数研究对SCLC的分子图谱进行了探究。本研究旨在评估中国队列中SCLC患者的基因组畸变情况。
前瞻性收集来自浙江省肿瘤医院的SCLC肿瘤样本。使用直接测序法对总共5个基因[（表皮生长因子受体）E18、E19、E20、E21，（ Kirsten大鼠肉瘤病毒癌基因同源物）E2、E15，（第10号染色体上缺失的磷酸酶和张力蛋白同源物）E5、E6、E8，（磷脂酰肌醇3激酶/蛋白激酶B）E9、E20]进行评估。
在2012年11月至2016年11月期间，共有30例SCLC患者前瞻性纳入本研究。30例患者中共检测到10个基因组畸变（33.3%）：1例E突变（n = 6，E19、E21），1例K突变（n = 1，E2），1例P突变（n = 1，E20），2例PTEN突变（n = 2，E5、E8）。在有或无基因组畸变的患者以及有或无E突变的患者特征方面未检测到显著差异。
SCLC存在基因组畸变，为临床医生提供突变数据可能有助于将患者分配至合适的临床研究，尤其是抗表皮生长因子受体（EGFR）和磷脂酰肌醇-3激酶（PIK3CA）治疗。此外，SCLC患者的分子遗传学特征是否与抗肿瘤治疗效果相关，尚需进一步研究。
