Translational Genomics of Neuroblastoma
Mario Capasso is a Professor of Medical Genetics at the University of Naples Federico II, where he leads a research group focused on the genetic basis of neuroblastoma. His research interests lie in translational genomics applied to pediatric cancers, with a strong background in bioinformatics and functional analysis of genomic data obtained from various platforms, including Next Generation Sequencing (NGS) technologies.
He was among the first to identify neuroblastoma susceptibility genes, including BARD1, NEFL, LIN28B, and LMO1. He conducted the first NGS-based sequencing of neuroblastoma in Italy, revealing somatic mutations affecting entire gene networks involved in tumor progression. Furthermore, he led the first Italian whole-genome sequencing study of neuroblastoma, demonstrating the potential role of non-coding mutations located in transcriptional regulatory regions in the development of the disease.
Head of Bioinformatics Service for NGS
Neuroblastoma is one of the most frequent solid tumors of childhood with very low survival rates. The aim of our research is to understand the complex interaction between inherited genetic variation and that acquired at the tumor level and therefore to understand its effect on carcinogenesis, tumor progression and on the response to therapy. The results of our research are expanding clinically useful genetic and biological knowledge as biomarkers to predict disease prognosis and as targets for new therapies.
Genetic predisposition to neuroblastoma.
Identification of inherited genetic variations predisposing to the development of neuroblastoma through large-scale genome analysis (Next Generation Sequencing and Genome-Wide Association Studies).
- Coding and non-coding mutations in cancer.
Identification of somatic tumor mutations through computational analysis of genomic data obtained via whole genome sequencing. - Liquid biopsy.
Development of a non-invasive diagnostic method to identify tumor mutations using the patient’s plasma. - Mutations and their biological role in cancer.
Characterization of the functional effects of genetic mutations on tumor biology through functional genomics and cellular biology studies. - Study of chemoresistance through Single Cell RNA sequencing.
Characterization of tumor heterogeneity associated with resistance to chemotherapy.
- Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet. 2009 Jun;41(6):718-23.
- Capasso M, Lasorsa VA, Cimmino F, Avitabile M, Cantalupo S, Montella A, De Angelis B, Morini M, de Torres C, Castellano A, Locatelli F, Iolascon A. Transcription factors involved in tumorigenesis are over-represented in mutated active DNA binding sites in neuroblastoma. Cancer Res. 2019 Nov 29. pii: canres.2883.2019
- Lasorsa VA, Montella A, Cantalupo S, Tirelli M, de Torres C, Aveic S, Tonini GP, Iolascon A, Capasso M. Somatic Mutations Enriched in Cis-Regulatory Elements Affect Genes Involved in Embryonic Development and Immune System Response in Neuroblastoma. Cancer Res. 2022 Apr 1;82(7):1193-1207.
- 4) Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M. Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma. EBioMedicine. 2023 Jan;87:104395
- Montella A, Tirelli M, Lasorsa VA, Aievola V, Cerbone V, Manganiello R, Iolascon A, Capasso M. Regulatory non-coding somatic mutations as drivers of neuroblastoma. Br J Cancer. 2025 Mar;132(5):469-480.