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Title: | Germline PDGFRB p.R987W pathogenic variant in two children with brain tumors |
Author: | Han, HyeRim Renzi, Samuele Larouche, Valerie Faury, Damien Langlois, Sylvie Sinnett, Daniel Gomez, Andrea Karamchandani, Jason Crevier, Louis Foulkes, William D. Jabado, Nada |
Keywords: | Tumors cerebrals Càncer en els infants Brain tumors Cancer in children |
Issue Date: | 14-Apr-2023 |
Publisher: | Oxford University Press (OUP) |
Abstract: | Platelet-Derived Growth Factor Receptor Beta (PDGFRB) is critically implicated in development. Constitutional pathogenic variants (CPVs) in the gene encoding this receptor result in several inherited syndromes, including primary familial brain calcifications (PFBC) or infantile myofibromatosis, but have not been associated with brain tumors. Here, we describe a 9-year-old male with a DCTN1-ALK fused inflammatory myofibroblastic tumor of the brain and an 11-year-old female with a TRIM24-MET fused occipital glioneural tumor. Both probands carry the same constitutive PDGFRB c.2959C>T (p. Arg987Trp) CPV, raising the possibility that this variant, previously described in PFBC, may also promote tumor formation including in the brain. |
Note: | Reproducció del document publicat a: https://doi.org/10.1093/noajnl/vdad029 |
It is part of: | Neuro-Oncology Advances, 2023, vol. 5, num. 1, p. 1-4 |
URI: | http://hdl.handle.net/2445/198653 |
Related resource: | https://doi.org/10.1093/noajnl/vdad029 |
ISSN: | 2632-2498 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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