Details

Autor(en) / Beteiligte

• Gargallo, Pablo
• Font de Mora, Jaime
• Berlanga, Pablo
• Calabria, Inés
• Llavador, Margarita
• Pedrola, Laia
• Panadero, Joaquín
• Dolz, Sandra
• Zúñiga, Ángel
• Oltra, Juan Silvestre
• Escobar, Paloma
• Yáñez, Yania
• Aparisi, María José
• Martinez-Matilla, Marina
• Segura, Vanessa
• Esquembre, Carlos
• Del Cañizo, María
• Moreno, María José
• Márquez, Catalina
• Cañete, Adela
• Castel, Victoria

Titel

Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative

Ist Teil von

• Translational medicine communications, 2019-07, Vol.4 (1), p.1-11, Article 10

Ort / Verlag

London: BioMed Central

Erscheinungsjahr

2019

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Background Understanding pediatric cancer biology is a huge challenge in continuous development that is currently being implemented into the clinical practice thanks to the new high throughput technologies integrated by personalized medicine. We present the results of the Precision Medicine program for children and adolescents with solid tumors in relapse/progression carried out in University La Fe Hospital (Valencia) from 2014. This is the first Spanish experience in precision medicine published in pediatric oncology. Methods Study enrollment was offered to all patients having a refractory or relapsed solid tumor and an available biopsy treated in La Fe Hospital (Valencia, Spain) or in other Spanish pediatric oncologic center. Eighty four patients were finally studied. The commercial Human Comprehensive Cancer GeneReadDNAseq Targeted genes Panel (Qiagen©) was sequenced in fresh/frozen samples. Variants considered pathogenic or likely pathogenic were classified using the algorithm published by Parsons et al. based on perceived clinical utility. Results Thirteen of 84 patients (15%) received therapeutic recommendations due to an actionable variant detected and three patients received prognosis information based on sequencing results. Conclusions Precision medicine projects based on targetable gene panel approximations can obtain translatable information to pediatric patients with reasonable efforts. This approach lowers economic expenses and reduces time of response with respect to whole exome sequencing. Since the translation to the clinical practice is the main objective of these projects, limiting the number of relatively well-known biological markers will allow us to transfer similar amount of information with less economic and human effort.