Journal Article

DKFZ-2021-00373

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).

Fisher, M. J. ; Jones, D. T. W. (First author)DKFZ* ; Li, Y. ; Guo, X. ; Sonawane, P. S. ; Waanders, A. J. ; Phillips, J. J. ; Weiss, W. A. ; Resnick, A. C. ; Gosline, S. ; Banerjee, J. ; Guinney, J. ; Gnekow, A. ; Kandels, D. ; Foreman, N. K. ; Korshunov, A. ; Ryzhova, M. ; Massimi, L. ; Gururangan, S. ; Kieran, M. W. ; Wang, Z. ; Fouladi, M. ; Sato, M. ; Øra, I. ; Holm, S. ; Markham, S. J. ; Beck, P.DKFZ* ; Jäger, N.DKFZ* ; Wittmann, A.DKFZ* ; Sommerkamp, A. C.DKFZ* ; Sahm, F. ; Pfister, S. (Last author)DKFZ* ; Gutmann, D. H.

2021
Springer Heidelberg

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Please use a persistent id in citations: doi:doi: 10.1007/s00401-021-02276-5.  doi: doi: 10.1007/s00401-021-02276-5.

Abstract: Low-grade gliomas (LGGs) are the most common childhood brain tumor in the general population and in individuals with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. Surgical biopsy is rarely performed prior to treatment in the setting of NF1, resulting in a paucity of tumor genomic information. To define the molecular landscape of NF1-associated LGGs (NF1-LGG), we integrated clinical data, histological diagnoses, and multi-level genetic/genomic analyses on 70 individuals from 25 centers worldwide. Whereas, most tumors harbored bi-allelic NF1 inactivation as the only genetic abnormality, 11% had additional mutations. Moreover, tumors classified as non-pilocytic astrocytoma based on DNA methylation analysis were significantly more likely to harbor these additional mutations. The most common secondary alteration was FGFR1 mutation, which conferred an additional growth advantage in multiple complementary experimental murine Nf1 models. Taken together, this comprehensive characterization has important implications for the management of children with NF1-LGG, distinct from their sporadic counterparts.

Keyword(s): FGFR1 ; Methylation ; Neurofibromatosis ; Pediatric brain tumor ; Pilocytic astrocytoma

Note: 2021 Apr;141(4):605-617 / #EA:B360#LA:B062#

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Contributing Institute(s):

1. Pediatric Glioma (B360)
2. B062 Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2021

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 15 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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