Abstract

Case Report

Diffuse Pediatric-Type High-Grade Glioma H3-/IDH-wildtype with MYCN Deletion and Constitutional Mismatch Repair Deficiency: Case Presentation

Darya Sitovskaya*, Mikhail Krapivin, Tatyana Sokolova and Yulia Zabrodskaya

Published: 26 October, 2023 | Volume 7 - Issue 3 | Pages: 053-057

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.

Read Full Article HTML DOI: 10.29328/journal.acr.1001079 Cite this Article Read Full Article PDF

Keywords:

Pediatric-type high-grade glioma; MYCN deletion; Mismatch repair deficiency

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