Charles Bobin, Yasmine Iddir, Charlotte Butterworth, Julien Masliah-Planchon, Alexandra Saint-Charles, Angela Bellini, Jaydutt Bhalshankar, Gaelle Pierron, Valérie Combaret, Valéry Attignon, Nicolas André, Nadége Corradini, Benoit Dumont, Ludovic Mansuy, Camille Khanfar, Sébastien Klein, Claire Briandet, Dominique Plantaz, Frédéric Millot, Sandrine Thouvenin, Isabelle Aerts, Lee Aymar Ndounga-Diakou, Salim Laghouati, Samuel Abbou, Nina Jehanno, Hubert Tissot, Shufang Renault, Sylvain Baulande, Virginie Raynal, Laurence Bozec, Ivan Bieche, Olivier Delattre, Pablo Berlanga, Gudrun Schleiermacher
PURPOSE: The study of cell free DNA (cfDNA) enables sequential analysis of tumor cell-specific genetic alterations in neuroblastoma patients. EXPERIMENTAL DESIGN: Eighteen patients with relapsing neuroblastoma having received Lorlatinib, a 3rd generation ALK inhibitor, were identified (SACHA national registry and/or in the institution). cfDNA was analyzed at relapse for 9 patients, and sequentially for 5 patients (blood/bone marrow plasma) by performing WGS library construction followed by ALK-targeted ddPCR of the hotspot mutations (F1174L, R1275Q, I1170N) (variant allele fraction (VAF) detection limit 0...
May 24, 2024: Clinical Cancer Research