Published in:
Open Access
01-12-2018 | Letter to the Editor
Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts
Authors:
Julieann Lee, Angelica R. Putnam, Samuel H. Chesier, Anuradha Banerjee, Corey Raffel, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Arie Perry, David A. Solomon
Published in:
Acta Neuropathologica Communications
|
Issue 1/2018
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Excerpt
The genetic alterations that characterize oligodendroglial neoplasms have been defined over the past decade. In adults, oligodendrogliomas are genetically defined by the combination of
IDH1 p.R132 or
IDH2 p.R172 mutation,
TERT promoter hotspot mutation (either c.-124C > T or c.-126C > T), and chromosomes 1p and 19q co-deletion, which is frequently accompanied by mutations involving
CIC,
FUBP1,
TCF12,
NOTCH1, and
PIK3CA genes [
2,
3,
7,
13,
21]. Oligodendrogliomas in children often lack the IDH mutation,
TERT promoter mutation, and 1p/19q-codeletion that is observed in their adult counterparts [
14,
20]. Instead, they most commonly harbor solitary pathogenic alterations in the
FGFR1 oncogene that cause constitutive activation of the kinase domain via gene fusion, tandem duplication, or missense mutations that localize at one of two hotspots (p.N546 or p.K656) [
18,
23]. …