Supplementary Table 1 from Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma

Madic, Jordan; Piperno-Neumann, Sophie; Servois, Vincent; Rampanou, Aurore; Milder, Maud; Trouiller, Bénédicte; Gentien, David; Saada, Stéphanie; Assayag, Franck; Thuleau, Aurélie; Nemati, Fariba; Decaudin, Didier; Bidard, François-Clément; Desjardins, Laurence; Mariani, Pascale; Lantz, Olivier; Stern, Marc-Henri

doi:10.1158/1078-0432.22447395.v1

Supplementary Table 1 from Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma

journal contribution

posted on 2023-03-31, 17:15 authored by Jordan Madic, Sophie Piperno-Neumann, Vincent Servois, Aurore Rampanou, Maud Milder, Bénédicte Trouiller, David Gentien, Stéphanie Saada, Franck Assayag, Aurélie Thuleau, Fariba Nemati, Didier Decaudin, François-Clément Bidard, Laurence Desjardins, Pascale Mariani, Olivier Lantz, Marc-Henri Stern

PDF file, 26KB, Biological and imaging characteristics in the 21 metastatic uveal melanoma patients.

History

ARTICLE ABSTRACT

Purpose: To develop a molecular tool to detect circulating tumor–derived DNA (ctDNA) in the plasma from patients with uveal melanoma as a marker of tumor burden and monitor treatment efficacy.Experimental Design: A real-time PCR was developed on the basis of bidirectional pyrophosphorolysis-activated polymerization (bi-PAP) for the quantification of ctDNA using 3′blocked primer pairs specific for the 3 recurrent mutually exclusive mutations of Gα subunits GNAQ and GNA11.Results: Sensitivity and specificity of bi-PAP were assessed on serial dilutions of tumor DNA in normal DNA for the 3 recurrent mutations. Each assay could detect a single mutated molecule per reaction, whereas 104 copies of normal DNA were not detected. The ctDNA was readily detected in plasma of mice bearing uveal melanoma xenografts in amounts proportional to circulating human DNA. Finally, plasma was almost always found positive (20 of 21 tested patients) in a prospective analysis of patients with metastatic uveal melanoma.Conclusions: Bi-PAP assays detect and quantify ctDNA in patients with metastatic uveal melanoma. A prospective study is ongoing to assess the clinical usefulness of ctDNA level in uveal melanoma. Clin Cancer Res; 18(14); 3934–41. ©2012 AACR.