Rahane Chinmay Satish, Kutzner Arne, Heese Klaus
Graduate School of Biomedical Science and Engineering, Hanyang University, 222 Wangsimni-ro, Seongdong-gu, Seoul 133-791, Republic of Korea.
Department of Information Systems, College of Engineering, Hanyang University, 222 Wangsimni-ro, Seongdong-gu, Seoul 133-791, Republic of Korea.
Cancer Genet. 2019 Jan;230:1-12. doi: 10.1016/j.cancergen.2018.10.005. Epub 2018 Nov 9.
Adrenocortical carcinoma (ACC) is a rare and aggressive tumor whose molecular signaling pathways are not fully understood. Using an in-silico clinical data analysis approach we retrieved human gene mutation data from the highly reputed Cancer Genome Atlas (TCGA). ACC-specific gene mutations were correlated with proliferation marker FAM72 expression and Mutsig along with the algorithmic implementation of the 20/20 rule were used to validate their oncogenic potential. The newly identified oncogenic driver gene set (ZFPM1, LRIG1, CRIPAK, ZNF517, GARS and DGKZ), specifically and most repeatedly mutated in ACC, is involved in tumor suppression and cellular proliferation and thus could be useful for the prognosis and development of therapeutic approaches for the treatment of ACC.
肾上腺皮质癌（ACC）是一种罕见的侵袭性肿瘤，其分子信号通路尚未完全明确。我们采用计算机临床数据分析方法，从声誉极高的癌症基因组图谱（TCGA）中检索人类基因突变数据。将ACC特异性基因突变与增殖标志物FAM72表达相关联，并运用Mutsig以及20/20规则的算法实施来验证其致癌潜力。新鉴定出的致癌驱动基因集（ZFPM1、LRIG1、CRIPAK、ZNF517、GARS和DGKZ）在ACC中特异性且最频繁地发生突变，参与肿瘤抑制和细胞增殖，因此可能有助于ACC治疗的预后评估和治疗方法的开发。
