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Title: Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas
Author: Carrió, Meritxell
Mazuelas, Helena
Richaud-Patin, Yvonne
Gel, Bernat
Terribas, Ernest
Rosas, Imma
Jimenez Delgado, Senda
Biayna, Josep
Vendredy, Leen
Blanco, Ignacio
Castellanos, Elisabeth
Lázaro García, Conxi
Raya Chamorro, Ángel
Serra, Eduard
Keywords: Neurofibromatosi
Issue Date: 12-Feb-2019
Publisher: Cell Press
Abstract: Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop through NF1 inactivation and can progress toward a malignant soft tissue sarcoma. There is a lack of non-perishable model systems to investigate PNF development. We reprogrammed PNF-derived NF1(-/-) cells, descendants from the tumor originating cell. These NF1(-/-)-induced pluripotent stem cells (iPSCs) captured the genomic status of PNFs and were able to differentiate toward neural crest stem cells and further to SCs. iPSC-derived NF1(-/-) SCs exhibited a continuous high proliferation rate, poor myelination ability, and a tendency to form 3D spheres that expressed the same markers as their PNF-derived primary SC counterparts. They represent a valuable model to study and treat PNFs. PNF-derived iPSC lines were banked for making them available.
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It is part of: Stem Cell Reports, 2019, vol. 12, num. 2, p. 411-426
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))

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