Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile
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The septum pellucidum (“translucent wall”) is a thin, triangular membranous structure that runs sagittally from the corpus callosum down to the fornix and separates the left and right lateral ventricles of the brain. The septum pellucidum consists of two laminae of both white and gray matter. During fetal development, there is a space between the two laminae called the cavum septum pellucidum, which disappears during infancy in most individuals. The septum pellucidum is the anatomic site of origin of a spectrum of uncommon neuroepithelial tumors that include central neurocytoma, subependymoma, and low-grade glioneuronal tumors morphologically resembling either dysembryoplastic neuroepithelial tumor (DNT) or rosette-forming glioneuronal tumor (RGNT). Multiple case series or individual case reports have described DNT-like or RGNT-like low-grade glioneuronal tumors of the septum pellucidum and lateral ventricle, which are distinct from the typical cortical and fourth ventricular...
D.A.S. is supported by NIH Director’s Early Independence Award (DP5 OD021403) and the UCSF Physician-Scientist Scholar Program. B.C.B. is supported by an NCI Outstanding Investigator Award (R35 CA220481).
Compliance with ethical standards
This study was approved by the Committee on Human Research of the University of California, San Francisco, with a waiver of patient consent.
Conflict of interest
The authors declare that they have no competing interests related to this study.