About
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 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.
Group leader
- Eduard Serra Arenas, PhD
Eduard Serra Arenas, PhD
Eduard Serra is the leader of the Hereditary Cancer Group at the Germans Trias i Pujol Research Institute (IGTP), Badalona (Barcelona). The group is part of the Translational Program in Cancer Research (CARE) at IGTP. Dr Serra holds a PhD on Neurofibromatosis type 1 (NF1) and has been in the NF field for more than 25 years. His lab’s research focuses on the study of NF1-associated tumours, particularly those emerging in the peripheral nervous system (PNS). The group studies their development, composition, progression and potential therapy and management. Their levels of study are the genomics and integrative analysis and the generation and use of cell-based model systems, including patient-derived induced pluripotent stem cells (iPSC). Dr Serra is a member of the Centre of Reference (CSUR) on Neurofibromatosis Adults in Spain, and also a collaborator of the Children's CSUR, in Barcelona. For 10 years he was in charge of the genetic diagnostics of NFs for these CSURs. Both Centres are part of the European Reference Network Genturis. He is also a close collaborator of the different local and international NF Patient Associations.
Contact: eserra(ELIMINAR)@igtp.cat
ORCID: 0000-0003-2895-9857
Team
Research associate
Meritxell Carrió Llach, PhD(ELIMINAR)
Postdoctoral fellow
Helena Mazuelas Gallego, PhD(ELIMINAR)
PhD students
Itziar Uriarte Arrazola(ELIMINAR)
Judit Farrés Casas(ELIMINAR)
Research lines
Development, characterisation and use of in vitro and in vivo models of NF1-associated peripheral nervous system (PNS) tumours
Primary and iPSC-derived models
The group uses both primary cells derived from neurofibromas and cells derived from induced pluripotent stem cells (iPSCs) with the aim of understanding how benign and malignant tumours of the PNS form and progress, and finding potential therapeutic strategies. iPSC-derived models are amenable to 2D or 3D culture systems and to in vitro and in vivo formats. They have been largely characterised and set up to be used in multiplex high-throughput frameworks, coupled to compound screening systems.
CRISPR-Cas 9 editing, allowed the development of isogenic models containing different tumour suppressor gene (TSG) inactivating signatures, recapitulating the benign-to-malignant progression. iPSC-derived 3D systems can be engrafted in the sciatic nerve of nude mice, where they reproduce genuine PNS tumours.
MPNST PDOX pre-clinical platform
In collaboration with the laboratory of Dr Conxi Lázaro and the Mouse lab at IDIBELL, the group has been developing and characterising an MPNST PDOX platform, in which pieces of patient-derived MPNSTs, either primary or relapse, are implanted orthotopically in the sciatic nerve of nude mice, or in the metastatic target tissue. Several MPNST cell lines from the same MPNSTs have also been isolated and established. The PDOX are histologically and genomically characterized, as well as the cell lines. The platform is ready for testing new drug combinations, for doing precision and personalized medicine. Pre-clinical data obtained by using this platform constitute the basis for advancing towards compassionate uses and clinical trials.
Cancer genomics and integrative biology of tumors of the peripheral nervous system, other neural crest-derived tumors and sarcomas
Together with the Translational Genomics and Bioinformatics Group led by Dr Bernat Gel, the group characterises tumors and models at different levels (genomics, transcriptomics, epigenomics, single cell) to investigate on tumor formation, development and dissemination, upon the integration of all this information by using bioinformatics. It also participates of the multidisciplinary team of oncologists, pathologists, surgeons, bioinformaticians and molecular and cellular biologists of the Can Ruti Sarcoma Group. The team translates the knowledge gained in the study of MPNSTs to other sarcomas, integrating pathology, clinical information and genomic analysis.
Molecular pathogenesis of neurofibromatosis type 1
The team investigates the molecular bases of several clinical features associated with neurofibromatosis type 1, together with the Phakomatoses CSUR HUGTiP-ICO coordinated by Dr. Ignacio Blanco, studying the clinical presentations of patients visited at the CSUR for adults and other partner clinical settings like the Neurofibromatosis children's CSUR at Sant Joan de Déu Hospital coordinated by Dr Hector Salvador, using models that facilitate experimental approaches.
Active projects
Testing new therapeutic strategies for benign and malignant tumors of the peripheral nervous system associated to Neurofibromatosistype 1 (NF1)
PI: Eduard Serra
Funding agency: Instituto de Salud Carlos III (ISCIII)
Agency code: PI23/00422
Duration: 1/01/2024 - 31/12/2026
Nuevas combinaciones terapéuticas y estrategias de ensayos co-clínicos a tiempo real para MPNSTs en niños y adultos con NF1
PIs: Conxi Lázaro (ICO-IDIBELL); Héctor Salvador (Hospital St. Joan de Déu), Eduard Serra (coordinator, IGTP)
Funding agency: Fundación Proyecto Neurofibromatosis
Agency code: 2005932384
Duration: 27/01/2024 - 31/12/2026
Combining the inhibition of the Ras/MAPK pathway and the activation of the cAMP/PKA pathway as a therapeutic strategy for cutaneous neurofibroma
PI: Eduard Serra; co-PI Piotr Topilko
Funding agency: Neurofibromatosis Therapeutic Acceleration Program (NTAP)-Johns Hopkins University
Agency code: 2005932384
Duration: 01/04/2023 - 31/03/2027
Past projects
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
Duration: 2021 - 2023
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
Duration: 2020 - 2023
Identification of drugs targeting epigenetic regulators in an iPSC-based 3D MPNST model
PI: Eduard Serra; Co-PI: Marc Ferrer (NCATS (NIH))
Funding agency: Children's Tumor Foundation (CTF)
Agency code: Drug Discovery Initiative Award
Duration: 01/07/2023 - 30/06/2024
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
Duration: 2020 - 2022
NF1-Associated Peripheral Nerve Sheath Tumors at Single-Cell Resolution: Heterogeneity, Tumor Growth, and Malignant Progression
PI: Eduard Serra
Funding agency: Department of Defense (DOD), USA
Agency code: NF200051
Duration: 01/07/2021 - 30/06/2024
More information
Estudio del cáncer secundario en pacientes con retinoblastoma hereditario; diseño de una estrategia basada en biopsia liquida para un diagnóstico temprano y adecuado seguimiento - proyecto RET-LB
PI: Eduard Serra
Funding agency: Fundación FEDER para la investigación de enfermedades raras
Duration: 1/06/2023 - 31/12/2024
Scientific publications
Highlighted publications
Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Zhang X, Creus-Bachiller E, Diazgranados AP, Uriarte-Arrazola I, Mazuelas H, Blanco I, Valverde C, Carrió M, Villanueva A, De Raedt T, Romagosa C, Gel B, Salvador H, Ferrer M, Lázaro C, Serra E. Triple Combination of MEK, BET, and CDK Inhibitors Significantly Reduces Human Malignant Peripheral Nerve Sheath Tumors in Mouse Models. Clin Cancer Res. 2025 Mar 3;31(5):907-920. DOI: 10.1158/1078-0432.CCR-24-2807.
Mazuelas H, Magallón-Lorenz M, Uriarte-Arrazola I, Negro A, Rosas I, Blanco I, Castellanos E, Lázaro C, Gel B, Carrió M, Serra E. Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas. JCI Insight. 2024 Jan 4;9(3):e168826. DOI: 10.1172/jci.insight.168826.
Magallón-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernández M, Requena G, Rosas I, Mazuelas H, Uriarte-Arrazola I, Negro A, Lausová T, Castellanos E, Blanco I, DeVries G, Kawashima H, Legius E, Brems H, Mautner V, Kluwe L, Ratner N, Wallace M, Fernández-Rodriguez J, Lázaro C, Fletcher JA, Reuss D, Carrió M, Gel B, Serra E. Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis. iScience 2023 31;26(2):106096. DOI: 10.1016/j.isci.2023.106096.
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.
Gel B, Serra E. karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data. Bioinformatics. 2017 Oct 1;33(19):3088-3090. DOI: 10.1093/bioinformatics/btx346.
Additional information
Collaborative networks
European Neurofibromatosis Group
European Neurofibromatosis Group (ENFG) is a network in the European neurofibromatosis and schwannomatosis scene composed by basic, translational and clinical researchers in Europe. The ENFG is responsible for organising the European NF Conference every two years. The group tries to foster a network of collaborative research within Europe. It also organises the ENFG Research Club to foster scientific seminars across European NF research labs.
European Reference Network (ERN) Genturis
Through the CSUR of Phakomatoses HUGTiP-ICO-IGTP, the group is part of this European reference network, which connects healthcare providers and centres of expertise of highly-specialised healthcare for patients with genetic diseases predisposing to cancer.
CIBERONC
The group participates of the Centro de Investigación Biomédica en Red Cáncer (CIBERONC), assigned to the Group led by Dr Gabriel Capellá, within the Program of Tumors of the Digestive Tract.
Doctoral theses
Title: Development of an iPSC-based model system for exploring the biological impact of NF1, CDKN2A and SUZ12 loss on malignant peripheral nerve sheath tumor ini=a=on and identification of new therapeutic strategies
Author: Itziar Uriarte Arrazola
Supervisor: Meritxell Carrió i Eduard Serra
University: Universitat de Barcelona
Date of defense: 19 December 2025
Title: Integrative genomic analyses of MPNST
Author: Miriam Magallon Lorenz
Supervisors: Bernat Gel, Eduard Serra
University: Universitat de Barcelona
Date of defense: July 2023
Innovation
The group has developed different iPSC-derived in vitro/in vivo models of NF1-associated peripheral nervous system tumours that facilitated the collaboration with different companies working in the field of Neurofibromatosis Type 1:
- HealX: an AI-enabled, clinical-stage biotech company dedicated to rare diseases, that already launched a Phase 2 Trial Evaluating HLX-1502 for the Treatment of Neurofibromatosis Type 1.
- CureAge Therapeutics: a startup company working to develop genetic therapies for people living with peripheral nerve diseases, starting with Neurofibromatosis type 1.
Outreach
The group is in close collaboration with different families and patient organsations:
  |
 |
 |
News
Experts in biomedical research, bioengineering and industry discuss alternative models to animal experimentation
The CMCiB co-organised a Cafè GIPS this Wednesday focusing on the challenges and opportunities posed by alternative models to animal experimentation in biomedical research. The session brought together professionals from research, bioengineering, innovation and industry with the aim of sharing experiences and perspectives on new approaches aligned with the 3Rs framework.
The CARE Annual Meeting reviews the program’s cancer research activity and sets priorities for the months ahead
The III CARE Annual Meeting, held on 5 December at BCIN, brought together the cancer research community of the Can Ruti Campus for a day focused on scientific dialogue, interdisciplinarity and future strategy.
Contact
(+34) 93 554 30 67 extn: 6210
Meritxell Carrió
(+34) 93 554 30 67