This research group studies tumours of the peripheral nervous system, other tumours originating from the neural crest and related sarcomas. Many of these tumours develop in the context of cancer predisposition genetic diseases, like neurofibromatosis type 1 or hereditary retinoblastoma, but also in sporadic cases.

The expertise of the group is centered around the genomic and integrative biology analyses of these tumours and the generation of new in vitro/in vivo models to understand their molecular pathogenesis and identify new potential therapies to translate all this knowledge to the clinics. The team collects genomic and epigenomic information of different natures, whole genome sequencing, RNA-seq, etc, from tumor tissues and multicellular models to single-cells, and integrate all this data by performing a careful and craftsman bioinformatic analysis. This information allows the development of new ideas and hypothesis that they can experimentally test in primary cells and cell-based models, both in vitro and in vivo. Particularly, using iPSC and Neural Crest-based 3D cellular models.

The research group also develops genomic-based analyses to help the management of patients with a high risk of developing tumors, for instance, using long-read sequencing applied to minimal or liquid biopsies. The group is part of the CARE Program at IGTP and participates on the Phakomatoses Clinical Reference Center (CSUR) of the HGTiP-ICO. It is a close collaborator of different local and international Patient Associations.

Keywords: Peripheral nervous system tumors, neurofibroma, MPNST, soft tissue sarcomas, Neurofibromatosis type 1, genomics, iPSCs, 3D models, neural crest.

Research lines

The research carried out by the group spans four areas, leveraging both wet and dry lab capabilities.

Cancer genomics and integrative biology of tumours of the peripheral nervous system, other neural crest-derived tumours and sarcomas

The group performs genomic analyses at different levels (genomics, transcriptomics, epigenomics) and uses different types of materials (primary tumours, primary cell lines, selected cell types, in vitro and in vivo models, iPSCs, etc) to investigate on tumour formation, development and dissemination, upon the integration of all this information by using bioinformatics.

Primary and iPSC-based models for cancer and regeneration

The team investigates the identity and behavior of the cell type that originates benign tumours of the peripheral nervous system (PNS) associated to the NFs. We do that by generating iPSCs directly from NF-associated benign tumour cells and developing tumouroid models, from iPSCs or directly from tumours. They want to use iPSCs also to understand the formation of cells of the PNS and use them with regeneration purposes.

Molecular pathogenesis of neurofibromatosis type 1

They look for the molecular basis of neurofibromatosis type 1 and their associated clinical traits by investigating on the clinical presentations of patients visited at the Phakomatoses CSUR HUGTiP-ICO or other clinical settings, or by using models that facilitate experimental approaches.

Applied cancer genomics for translation into the clinics

Together with the Hereditary Cancer Program at ICO, they are constantly trying to improve the genetic diagnostics of hereditary cancer. The group is trying to develop cost-effective strategies that efficiently allow the identification and interpretation of disease-causing mutations using genomic and bioinformatic techniques.

Active projects

NF1-Associated Peripheral Nerve Sheath Tumors at Single-Cell Resolution: Heterogeneity, Tumor Growth, and Malignant Progression

PI: Eduard Serra
Funding agency: Department of Defense office of the Congressionally Directed Medical Research Programs (CDMRP), Neurofibromatosis Research Program (NFRP) FY20
Agency code: NF200051
Start date: 2021
End date: 2024

Impact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1

PI: Bernat Gel, Eduard Serra
Funding agency: Instituto de Salud Carlos III (ISCIII)
Agency code: PI20/00228
Start date: 2021
End date: 2023

Caracterización de la composición y heterogeneidad celular de los tumores del sistema nervioso periférico asociados a la neurofibromatosis de tipo 1 a partir de análisis de célula única

PI: Bernat Gel, Eduard Serra
Funding agency: Fundación Proyecto Neurofibromatosis
Start date: 2020
End date: 2022

Testing the Malignant Peripheral Nerve Sheath Tumor vulnerability to precision therapies directed to recurrent genomic alterations

PI: Eduard Serra
Funding agency: Fundació La Marató de TV3
Agency code: 51/C/2019
Start date: 2020
End date: 2023

Scientific publications

Piotrowski A, Koczkowska M, Poplawski AB, Bartoszewski R, Króliczewski J, Mieczkowska A, Gomes A, Crowley MR, Crossman DK, Chen Y, Lao P, Serra E, Llach MC, Castellanos E, Messiaen LM. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience. Hum Mutat. 2022 Jan;43(1):74-84. DOI: 10.1002/humu.24294. PMID: 34747535.

Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C. Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer. J Med Genet. 2022 Jan;59(1):75-78. DOI: 10.1136/jmedgenet-2020-107366. PMID: 33219106.

Mazuelas H, Magallón-Lorenz M, Fernández-Rodríguez J, Uriarte-Arrazola I, Richaud-Patin Y, Terribas E, Villanueva A, Castellanos E, Blanco I, Raya Á, Chojnacki J, Heyn H, Romagosa C, Lázaro C, Gel B, Carrió M, Serra E. Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas. Cell Rep. 2022 Feb 15;38(7):110385. DOI: 10.1016/j.celrep.2022.110385. PMID: 35172160.

Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component. J Med Genet. 2022 Jul;59(7):678-686. doi: 10.1136/jmedgenet-2020-107548. PMID: 34348961.

Fernández-Rodríguez J, Creus-Bachiller E, Zhang X, Martínez-Iniesta M, Ortega-Bertran S, Guha R, Thomas CJ, Wallace MR, Romagosa C, Salazar-Huayna L, Reilly KM, Blakely JO, Serra-Musach J, Pujana MA, Serra E, Villanueva A, Ferrer M, Lázaro C. A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors. Mol Cancer Ther. 2022 Jul 5;21(7):1246-1258. DOI: 10.1158/1535-7163.MCT-21-0947. PMID: 35511749; PMCID: PMC9256801.

Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I; NF2 Multidisciplinary Clinics HUGTiP-ICO-IGTP. Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):1632-1640. DOI: 10.1111/jdv.18190. PMID: 35490384; PMCID: PMC9543204.

Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? J Med Genet. 2022 Oct;59(10):1017-1023. DOI: 10.1136/jmedgenet-2021-108301. PMID: 35121649.

Catasús N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, Salvador H, Serra E, Blanco I, Castellanos E; NF2-related SWN Spanish National Reference Centre HUGTP-ICO-IGTP. Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro. Mol Ther Nucleic Acids. 2022 Nov 4;30:493-505. DOI: 10.1016/j.omtn.2022.10.026. PMID: 36420221; PMCID: PMC9678674.

See all publications for Eduard Serra


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Eduard Serra

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