Journal article
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
Clinical genetics, v 96(4), pp 359-365
01 Oct 2019
PMID: 31278746
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Cancer predisposition syndromes (CPS) result from germline pathogenic variants, and they are increasingly recognized in the etiology of many pediatric cancers. Herein, we report the genetic/genomic analysis of 40 pediatric patients enrolled from 2016 to 2018. Our diagnostic workflow was successful in 50% of screened cases. Overall, the proportion of CPS in our case series is 10.9% (20/184) of enrolled patients. Interestingly, 12.5% of patients achieved a conclusive diagnosis through the analysis of chromosomal imbalance. Indeed, we observed germline microdeletions/duplications of regions encompassing cancer-related genes in 50% of patients undergoing array-CGH: EIF3H duplication in a patient with infantile desmoplastic astrocytoma and low-grade Glioma; SLFN11 deletion, SOX4 duplication, and PARK2 partial deletion in three neuroblastoma patients; a PTPRD partial deletion in a child diagnosed with glioblastoma multiforme. Finally, we identified two cases due to DICER1 germline mutations.
Metrics
Details
- Title
- Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
- Creators
- Antonella Gambale - University of Naples Federico IIRoberta Russo - University of Naples Federico IIImmacolata Andolfo - University of Naples Federico IILucia Quaglietta - Azienda Osped Rilievo Nazl Santobono Pausilipon, SC Pediat Oncol, Dip Oncoematol Pediat, Naples, ItalyGianluca De Rosa - Ceinge Biotecnologie AvanzateValentina Contestabile - University of Naples Federico IILucia De Martino - Azienda Osped Rilievo Nazl Santobono Pausilipon, SC Pediat Oncol, Dip Oncoematol Pediat, Naples, ItalyRita Genesio - University of Naples Federico IIPiero Pignataro - University of Naples Federico IISabrina Giglio - University of FlorenceMario Capasso - Istituti di Ricovero e Cura a Carattere ScientificoRosanna Parasole - Azienda Osped Rilievo Nazl Santobono Pausilipon, SC Pediat Oncol, Dip Oncoematol Pediat, Naples, ItalyBarbara Pasini - University of TurinAchille Iolascon - University of Naples Federico II
- Publication Details
- Clinical genetics, v 96(4), pp 359-365
- Publisher
- Wiley
- Number of pages
- 7
- Grant note
- D15D18000410001 / program "Dipartimenti di Eccellenza 2018 - 2022"
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pharmacology and Physiology
- Web of Science ID
- WOS:000476049900001
- Scopus ID
- 2-s2.0-85069745229
- Other Identifier
- 991022004954504721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity