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 |
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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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