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037 _ _ |a DKFZ-2020-00726
041 _ _ |a eng
082 _ _ |a 610
100 1 _ |a Clarke, Matthew
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245 _ _ |a Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.
260 _ _ |a Philadelphia, Pa.
|c 2020
336 7 _ |a article
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500 _ _ |a 2020 Jul;10(7):942-963
520 _ _ |a Infant 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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Marc 21