Internet Archive Scholar

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

Pablo Gargallo, Jaime Font de Mora, Pablo Berlanga, Inés Calabria, Margarita Llavador, Laia Pedrola, Joaquín Panadero, Sandra Dolz, Ángel Zúñiga, Juan Silvestre Oltra, Paloma Escobar, Yania Yáñez (+9 others)
2019 Translational Medicine Communications  

Preserved Fulltext

fulltext thumbnail
Web Archive Capture PDF (2.4 MB)
https://web.archive.org/web/20200209084902/https://transmedcomms.biomedcentral.com/track/pdf/10.1186/s41231-019-0042-7

A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL. The file type is application/pdf.

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
more » ... ric 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.
doi:10.1186/s41231-019-0042-7 fatcat:g6x6e74glbhqnke3gjxkkyhlam
DOAJ
Citation

Pablo Gargallo, Jaime Font de Mora, Pablo Berlanga, Inés Calabria, Margarita Llavador, Laia Pedrola, Joaquín Panadero, Sandra Dolz, Ángel Zúñiga, Juan Silvestre Oltra, Paloma Escobar, Yania Yáñez, María José Aparisi, Marina Martinez-Matilla, Vanessa Segura, Carlos Esquembre, María Del Cañizo, María José Moreno, Catalina Márquez, Adela Cañete, Victoria Castel. "Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative." Translational Medicine Communications 4.1 (2019)