Angela Mastronuzzi, Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital, President of AIEOP, shared on LinkedIn:
“Our study is out with Neuropathology and Applied Neurobiology by Wiley – “Utility of Optical Genome Mapping in the Characterization of the Global Genomic Architecture of Pediatric Central Nervous System Tumors: A Pilot Study”
Summery:
- The utility of an OGM platform in the characterization of brain tumors remains largely unexplored.
- To assess the potential of OGM in pediatric CNS tumor characterization, we analyzed a diverse series of 43 cases encompassing both common and rare tumor types, many of which harbored gene fusions identified by RNA sequencing.
- OGM revealed different patterns of genomic complexity, defined by the number and distribution of structural rearrangements and copy number alterations, providing a more comprehensive characterization of chromothripsis.
- While OGM did not prove to be the gold standard for detecting gene fusions, its integration with RNA sequencing clarified the mechanisms underlying their formation.”
Title: Utility of Optical Genome Mapping in the Characterization of the Global Genomic Architecture of Pediatric Central Nervous System Tumors: A Pilot Study
Authors: Viola Alesi, Silvia Genovese, Serena Russo, Isabella Giovannoni, Sabina Barresi, Chantal Tancredi, Lucia Pedace, Francesca Arienzo, Antonietta Lombardo, Piera Bontempo, Emanuele Agolini, Chiara Calacci, Alessandra Morgia, Giusy Calvieri, Chiara Puggioni, Antonello Cardoni, Antonella Cacchione, Giada Del Baldo, Giovanna Stefania Colafati, Andrea Carai, Angela Mastronuzzi, Evelina Miele, Damiano Abeni, Franco Locatelli, Andrea Onetti Muda, Antonio Novelli, Rita Alaggio, Sabrina Rossi.
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