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000154386 0247_ $$2doi$$a10.1158/2159-8290.CD-19-1030
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000154386 1001_ $$aClarke, Matthew$$b0
000154386 245__ $$aInfant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.
000154386 260__ $$aPhiladelphia, Pa.$$c2020
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000154386 500__ $$a2020 Jul;10(7):942-963
000154386 520__ $$aInfant high grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years of age, and carried out histological review, methylation profiling, custom panel and genome/exome sequencing. After excluding tumors representing other established entities or subgroups, we identified 130 cases to be part of an 'intrinsic' spectrum of disease specific to the infant population. These included those with targetable MAP-kinase alterations, and a large proportion of remaining cases harboring gene fusions targeting ALK (n=31), NTRK1/2/3 (n=21), ROS1 (n=9) and MET (n=4) as their driving alterations, with evidence of efficacy of targeted agents in the clinic. These data strongly supports the concept that infant gliomas require a change in diagnostic practice and management.
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