Down-regulation of C12orf59 is associated with a poor prognosis and VHL mutations in renal cell carcinoma

// Jun Xie 1, 2, * , Chuangzhi Zhu 2, * , Jianting Wu 1, 2 , Cailing Li 2 , Liya Luo 1 , Lingling Xia 1 , Xianxin Li 2 , Yaoting Gui 2 , Zhiming Cai 1 , Zesong Li 1 1 Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen 518035, China 2 Peking University Shenzhen Hospital, Shenzhen 518036, China * These authors have contributed equally to this work Correspondence to: Zesong Li, e-mail: lzssc@yahoo.com Keywords: renal cell cancer (RCC), C12orf59, von Hippel-Lindau (VHL), prognosis, survival Received: November 06, 2014      Accepted: December 26, 2015      Published: January 07, 2016 ABSTRACT C12orf59 is newly identified gene in kidney. However, the relation of C12orf59 expression and clinic features is unknown. Here, our study showed that C12orf59 was broadly expressed in normal human tissues with high expression levels in kidney while its expression is beyond detectable in a panel of cancer cell lines. C12orf59 expression in RCC was significantly decreased compared with corresponding adjacent noncancerous tissues ( P < 0.01). The decreased C12orf59 expression was correlated with lymph node status ( P < 0.05), distant metastases ( P < 0.05), poor survival ( P < 0.001) (HR 3.00; 95% CI, 1.29–7.53), VHL non-sense mutations or frame-shift mutations ( P < 0.01), and UMPP gene non-sense mutations or frame-shift mutations ( P = 0.01). Thus, we propose that the decreased C12orf59 expression status is a prognostic biomarker of ccRCC and cooperates with the loss of VHL all the while promoting renal carcinogenesis.