Detection of von Hippel‐Lindau gene mutation in circulating cell‐free DNA for clear cell renal cell carcinoma

Autor: Shusuke Akamatsu, Kei Mizuno, Takayuki Sumiyoshi, Eijiro Nakamura, Noriaki Utsunomiya, Osamu Ogawa, Toshinari Yamasaki, Hiromasa Sakamoto, Masashi Takeda
Rok vydání: 2021
Předmět:
Genetics
Genomics and Proteomics
Adult
Male
0301 basic medicine
Cancer Research
next‐generation sequencing
clear cell renal cell carcinoma
Gene mutation
urologic and male genital diseases
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
VHL
Cell Line
Tumor
Multiplex polymerase chain reaction
Biomarkers
Tumor
medicine
Humans
Digital polymerase chain reaction
cell‐free DNA
Carcinoma
Renal Cell
Aged
Aged
80 and over
Mutation
business.industry
biomarkers
Original Articles
Sequence Analysis
DNA
General Medicine
Middle Aged
medicine.disease
female genital diseases and pregnancy complications
Circulating Cell-Free DNA
Clear cell renal cell carcinoma
030104 developmental biology
Oncology
Cell-free fetal DNA
Von Hippel-Lindau Tumor Suppressor Protein
Case-Control Studies
030220 oncology & carcinogenesis
Cancer research
Biomarker (medicine)
Original Article
Female
business
Cell-Free Nucleic Acids
Zdroj: Cancer Science
ISSN: 1349-7006
1347-9032
Popis: The therapeutic landscape of metastatic clear cell renal cell carcinoma (ccRCC) has rapidly expanded, and there is an urgent need to develop noninvasive biomarkers that can select an optimal therapy or evaluate the response in real time. To evaluate the clinical utility of circulating tumor DNA (ctDNA) analysis in ccRCC, we established a highly sensitive assay to detect mutations in von Hippel‐Lindau gene (VHL) using a combination of digital PCR and multiplex PCR–based targeted sequencing. The unique assay could detect VHL mutations with a variant allele frequency (VAF)
Somatic genome profiling of cell‐free DNA (cfDNA) and matched tumor tissues from patients with clear cell renal cell carcinoma focusing on VHL mutations was conducted. By combination of digital PCR and targeted sequencing, thirteen VHL mutations were identified in cfDNA from 12 (21.4%) patients with a median VAF of 0.78% (range, 0.13%‐4.20%). Of the 28 patients with VHL mutations in matched tumor tissues, eight (28.6%) also had VHL mutation in cfDNA with a median VAF of 0.47% (range, 0.13%‐2.88%).
Databáze: OpenAIRE
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