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Circulating MYCN DNA as a tumor-specific marker in neuroblastoma patients:
Results of a blind multicentric study
Valérie Combaret1, Rosa Noguera2, Isabelle Iacono1, Carole Caudoynaud1, Anne Deville3, Claire Berger4,
Dominique Plantaz5, Justina Kanold6, Mathias Schell1, Alain Puisieux1
Unité d'Oncologie Moléculaire1, Centre Léon Bérard and Fondation Lenval3, Lyon; CHU St Etienne4; Département de Pédiatrie
(Oncologie-Hématologie) 5, Centre Hospitalier Universitaire, Grenoble; CHU Clermont Ferrand, France6; Deparment of Pathology2,
Medical School, University of Valencia, Spain.
MYCN amplification is an indicator of neuroblastoma aggressiveness. It is used internationally for
stratifying patients for therapy. In a monocentric study, we have previously shown that high levels of
MYCN DNA sequences could be detected by PCR in the peripheral blood of patients with MYCNamplified neuroblastomas. Furthermore, we showed that the release of MYCN sequences in the
peripheral blood is an early process of disease progression. As a consequence, circulating MYCN DNA is
a valuable prognostic marker able to predict relapse in neuroblastoma patients (Cancer Research 2002).
To confirm the pertinence of this assay of circulating MYCN DNA detection, the present investigation
examined, in a blind analysis, the MYCN DNA sequences detected in the sera obtained at diagnosis from
48 patients newly diagnosed with neuroblastoma in different centres (29 French and 19 Spanish patients)
and compared with results obtained in tumour cells. A 96% correlation was observed between sera and
malignant cells. As the determination of MYCN amplification is crucial for clinical decision in many
therapeutic protocols, we propose the use of this new non-invasive assay to evaluate MYCN DNA
sequences, in particular when malignant cells are not available for molecular analysis.
Presentation mode(s): ORAL-PRESENTATION – PC-PROJECTOR