Ultrasensitive detection of BRAF mutations in circulating tumor DNA of non-metastatic melanoma

ESMO Open

article

M.A. Gouda¹  J. Polivka²  H.J. Huang¹  I. Treskova⁵  K. Pivovarcikova⁶  T. Fikrle⁷  V. Woznica⁵  D.J. Dustin¹  S.G. Call¹  F. Meric-Bernstam¹  M. Pesta³  F. Janku¹ 

[1] Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center;Department of Histology and Embryology, Faculty of Medicine in Pilsen, Charles University;Biomedical Center, Faculty of Medicine in Pilsen, Charles University;Department of Neurology, University Hospital Pilsen;Department of Plastic Surgery, University Hospital Pilsen;Department of Pathology, University Hospital Pilsen;Department of Dermatovenerology, University Hospital Pilsen;Department of Biology, Faculty of Medicine in Pilsen, Charles University

关键词: circulating tumor DNA;    liquid biopsy;    melanoma;   

DOI  :  10.1016/j.esmoop.2021.100357

学科分类：社会科学、人文和艺术（综合）

来源: BMJ Publishing Group

【 摘 要 】

Background Implementation of adjuvant therapies in non-metastatic melanoma improved treatment outcomes in some patients; however, adjuvant therapy can be associated with significant cost and risk of toxicity. Therefore, there is an unmet need to better identify patients at high risk of recurrence.Patients and methods We carried out an ultrasensitive droplet digital PCR (ddPCR)-based detection of BRAFV600E-mutated circulating tumor DNA (ctDNA) from blood samples prospectively collected before surgery, 1 hour after surgery, and then serially during follow-up.Results In 80 patients (stages ≤III), BRAFV600E mutations were detected in 47.2% of tissue, in 37.7% of ctDNA samples collected before surgery, and in 25.9% of ctDNA samples collected 1 hour after surgery. Patients with detected ctDNA in blood collected 1 hour after surgery compared to patients without detected ctDNA had higher likelihood of melanoma recurrence (P < 0.001) and shorter median disease-free survival (P = 0.001) and overall survival (P = 0.003).Conclusions Ultrasensitive ddPCR can detect ctDNA in pre- and post-surgical blood samples from patients with resectable melanoma. Detection of ctDNA in post-surgical samples is associated with inferior treatment outcomes.

【 授权许可】

CC BY|CC BY-NC-ND