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000167470 1001_ $$aFisher, Michael J$$b0
000167470 245__ $$aIntegrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).
000167470 260__ $$aHeidelberg$$bSpringer$$c2021
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000167470 500__ $$a2021 Apr;141(4):605-617 / #EA:B360#LA:B062#
000167470 520__ $$aLow-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.
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000167470 650_7 $$2Other$$aFGFR1
000167470 650_7 $$2Other$$aMethylation
000167470 650_7 $$2Other$$aNeurofibromatosis
000167470 650_7 $$2Other$$aPediatric brain tumor
000167470 650_7 $$2Other$$aPilocytic astrocytoma
000167470 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b1$$eFirst author
000167470 7001_ $$aLi, Yimei$$b2
000167470 7001_ $$aGuo, Xiaofan$$b3
000167470 7001_ $$aSonawane, Poonam S$$b4
000167470 7001_ $$aWaanders, Angela J$$b5
000167470 7001_ $$aPhillips, Joanna J$$b6
000167470 7001_ $$aWeiss, William A$$b7
000167470 7001_ $$aResnick, Adam C$$b8
000167470 7001_ $$aGosline, Sara$$b9
000167470 7001_ $$aBanerjee, Jineta$$b10
000167470 7001_ $$aGuinney, Justin$$b11
000167470 7001_ $$aGnekow, Astrid$$b12
000167470 7001_ $$aKandels, Daniela$$b13
000167470 7001_ $$aForeman, Nicholas K$$b14
000167470 7001_ $$aKorshunov, Andrey$$b15
000167470 7001_ $$aRyzhova, Marina$$b16
000167470 7001_ $$aMassimi, Luca$$b17
000167470 7001_ $$aGururangan, Sri$$b18
000167470 7001_ $$aKieran, Mark W$$b19
000167470 7001_ $$aWang, Zhihong$$b20
000167470 7001_ $$aFouladi, Maryam$$b21
000167470 7001_ $$aSato, Mariko$$b22
000167470 7001_ $$aØra, Ingrid$$b23
000167470 7001_ $$aHolm, Stefan$$b24
000167470 7001_ $$aMarkham, Stephen J$$b25
000167470 7001_ $$0P:(DE-He78)b8f2b74d0482aed61472c7065dc1ed56$$aBeck, Pengbo$$b26$$udkfz
000167470 7001_ $$0P:(DE-He78)bff9e3e3d86865d2b0836bb8f3ce98f3$$aJäger, Natalie$$b27$$udkfz
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000167470 7001_ $$0P:(DE-He78)193d882d3418c5d0ffbb210947510711$$aSommerkamp, Alexander C$$b29$$udkfz
000167470 7001_ $$aSahm, Felix$$b30
000167470 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b31$$eLast author$$udkfz
000167470 7001_ $$00000-0002-3127-5045$$aGutmann, David H$$b32
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