Genetic mutations associated with metastatic clear cell renal cell carcinoma

Oncotarget
Zhongjun LiJiang F Zhong

Abstract

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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Citations

Dec 25, 2019·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Tairine Zara LopesMarilia Freitas Calmon
Feb 20, 2020·Artificial Cells, Nanomedicine, and Biotechnology·Ludong Zhang, Ya Guo

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Methods Mentioned

BETA
exome-seq
RNA-seq
PCR

Software Mentioned

BWA
Imagej
Integrative Genomics Viewer
GENEWIZ
Partek Flow
InterProScan
Partek Gene Specific Analysis
MEM
Samtools
Flow

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