Diffuse Pediatric-Type High-Grade Glioma H3-/IDH-wildtype with MYCN Deletion and Constitutional Mismatch Repair Deficiency: Case Presentation
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Published:2023-10-26
Issue:3
Volume:7
Page:053-057
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ISSN:2637-3793
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Container-title:Archives of Case Reports
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language:
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Short-container-title:Arch Case Rep
Author:
Darya SitovskayaORCID, Mikhail KrapivinORCID, Tatyana SokolovaORCID, Yulia ZabrodskayaORCID
Abstract
Diffuse pediatric-type high-grade glioma H3-wildtype and IDH-wildtype (pHGG H3/IDH WT) is a heterogeneous entity that is currently defined by a combination of highly malignant morphology, glial or primitive neuroectodermal differentiation, and a number of molecular features. Depending on the DNA methylation profile in pHGG H3/IDH WT, three molecular subgroups are distinguished, one of which (pHGG MYCN) is characterized by amplification of the indicated gene. We report a unique case of pHGG H3/IDH WT in a 19-year-old girl with a deletion of the MYCN gene and constitutional mismatch repair deficiency syndrome.
Publisher
Heighten Science Publications Corporation
Subject
General Economics, Econometrics and Finance
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