Gene analysis in melanoma patients using circulating tumor DNA

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461687
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Shinshu University
• Principal Investigator: ASHIDA Atsuko 信州大学, 学術研究院医学系, 助教 (00596786)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: ctDNA / メラノーマ / BRAF / NRAS / バイオマーカー

Outline of Final Research Achievements

Circulating tumor DNA (ctDNA) is a novel biomarker for evaluating the features of　tumors in cancer patients. Detection of ctDNA usually requires specialized equipment, because blood includes only a small amount of the tumor- derived DNA. We assessed the utility of BRAF- and NRAS mutated ctDNA levels using competitive allele specific TaqMan PCR (castPCR) or droplet digital PCR. ctDNA was detected in cases with heavy tumor burden as advanced disease. Detection of ctDNA was associated with poor prognosis. Quantification of ctDNA (BRAFmutant or NRASmutant) levels during the treatment course (nivolumab or vemurafenib) showed dynamic changes corresponding to radiologic and clinical alterations. Our finding suggest that ctDNA might be a useful biomarker of clinical response and tumor recurrence while monitoring patients with metastatic melanoma.

Free Research Field

メラノーマの遺伝子異常