Dr. Michael Fisher at Children’s Hospital of Philadelphia and Dr. David Gutmann from the Washington University NF Center spearheaded an internal consortium effort to define the genetics of low-grade brain tumors in children with NF1.
In their study, involving 25 centers worldwide, they characterized the genetic changes seen in these tumors, and analyzed the importance of these alterations to patient outcome. Low-grade gliomas from 70 children with NF1 were studied, revealing additional genetic changes beyond NF1 gene mutation. One of these changes involving a mutation in the fibroblast growth factor receptor (FGFR1) was shown to increase the growth of Nf1-mutant mouse tumor cells.
This report was recently published in Acta Neuropathologica.
Fisher MJ, Jones DTW, Li Y, Guo X, Sonawane PS, Waanders AJ, Phillips JJ, Weiss WA, Resnick AC, Gosline S, Banerjee J, Guinney J, Gnekow A, Kandels D, Foreman NK, Korshunov A, Ryzhova M, Massimi L, Gururangan S, Kieran MW, Wang Z, Fouladi M, Sato M, Øra I, Holm S, Markham SJ, Beck P, Jäger N, Wittmann A, Sommerkamp AC, Sahm F, Pfister SM, Gutmann DH. Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1). Acta Neuropathol. 2021 Apr;141(4):605-617. doi: 10.1007/s00401-021-02276-5. Epub 2021 Feb 14. PMID: 33585982