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Circulating tumor DNA analysis enables molecular characterization of pediatric renal tumors at diagnosis
Author(s) -
Jiménez Irene,
Chicard Mathieu,
ColmetDaage Léo,
Clément Nathalie,
Danzon Adrien,
Lapouble Eve,
Pierron Gaelle,
Bohec Mylène,
Baulande Sylvain,
Berrebi Dominique,
Fréneaux Paul,
Coulomb Aurore,
GalmicheRolland Louise,
Sarnacki Sabine,
Audry Georges,
PhilippeChomette Pascale,
Brisse Hervé J.,
Doz François,
Michon Jean,
Delattre Olivier,
Schleiermacher Gudrun
Publication year - 2018
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.31620
Subject(s) - medicine , pathology , dna , cancer research , biology , genetics
Circulating tumor DNA (ctDNA) is a powerful tool for the molecular characterization of cancer. The most frequent pediatric kidney tumors (KT) are Wilms’ tumors (WT), but other diagnoses may occur. According to the SIOP strategy, in most countries pediatric KT have a presumptive diagnosis of WT if they are clinically and radiologically compatible. The histologic confirmation is established after post‐chemotherapy nephrectomy. Thus, there is a risk for a small fraction of patients to receive neoadjuvant chemotherapy that is not adapted to the disease. The aim of this work is to perform molecular diagnosis of pediatric KT by tumor genetic characterization based on the analysis of ctDNA. We analyzed ctDNA extracted from plasma samples of 18 pediatric patients with KT by whole‐exome sequencing and compared the results to their matched tumor and germline DNA. Copy number alterations (CNAs) and single nucleotide variations (SNVs) were analyzed. We were able to detect tumor cell specific genetic alterations—CNAs, SNVs or both—in ctDNA in all patients except in one (for whom the plasma sample was obtained long after nephrectomy). These results open the door to new applications for the study of ctDNA with regards to the molecular diagnosis of KT, with a possibility of its usefulness for adapting the treatment early after diagnosis, but also for disease monitoring and follow up.