Genetic mutations associated with metastatic clear cell renal cell carcinoma
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Zhongjun Li1,2,*, Ping Hao3,*, Qingjian Wu4, Fengjie Li1, Jiang Zhao4, Kaijin Wu2, Cunye Qu2, Yibu Chen5, Meng Li5, Xuelian Chen2, Andres Stucky2, Jiangjian Zhong6, Longkun Li4, Jiang F. Zhong2
1Department of Blood Transfusion, Second Affiliated Hospital, Third Military Medical University, Chongqing, P. R. China
2Ostrow School of Dentistry and Department of Pediatrics, School of Medicine, University of Southern California, Los Angeles, CA, USA
3Department of Oncology, Second Affiliated Hospital, Third Military Medical University, Chongqing, P. R. China
4Department of Urology, Second Affiliated Hospital, Third Military Medical University, Chongqing, P. R. China
5Bioinformatics Service, Norris Medical Library, University of Southern California, Los Angeles, CA, USA
6Z-Genetic Medicine LLC, Temple City, CA, USA
*These authors have contributed equally to this work
Longkun Li, e-mail: firstname.lastname@example.org
Keywords: Plk5, metastasis-specific mutation, renal cell carcinoma
Received: October 07, 2015 Accepted: February 06, 2016 Published: February 18, 2016
Metastasis is the major cause of death among cancer patients, yet early detection and intervention of metastasis could significantly improve their clinical outcomes. We have sequenced and analyzed RNA (Expression) and DNA (Mutations) from the primary tumor (PT), tumor extension (TE) and lymphatic metastatic (LM) sites of patients with clear cell renal cell carcinoma (CCRCC) before treatment. Here, we report a three-nucleotide deletion near the C-region of Plk5 that is specifically associated with the lymphatic metastasis. This mutation is un-detectable in the PT, becomes detectable in the TE and dominates the LM tissue. So while only a few primary cancer cells carry this mutation, the majority of metastatic cells have this mutation. The increasing frequency of this mutation in metastatic tissue suggests that this Plk5 deletion could be used as an early indicator of CCRCC metastasis, and be identified by low cost PCR assay. A large scale clinical trial could reveal whether a simple PCR assay for this mutation at the time of nephrectomy could identify and stratify high-risk CCRCC patients for treatments.
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