Related Experiment Video
Updated: Jan 5, 2026
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features
Calixto-Hope G Lucas1, Javier E Villanueva-Meyer2, Nicholas Whipple3
1Department of Pathology, University of California, San Francisco, CA.
Abstract:
"Myxoid glioneuronal tumor, PDGFRA p.K385-mutant" is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow-up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports "myxoid glioneuronal tumor, PDGFRA p.K385-mutant" as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm.
Insights
Newly identified myxoid glioneuronal tumors with PDGFRA p.K385-mutant can occur beyond the septum pellucidum. Despite recurrence, patients remain alive without adjuvant therapy, supporting this as a distinct CNS tumor entity.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Central Nervous System (CNS) Tumors
Background:
- Myxoid glioneuronal tumor, PDGFRA p.K385-mutant is a recently identified CNS tumor.
- This tumor is characterized by a specific mutation in the PDGFRA oncogene (p.K385L/I).
- Optimal treatment and clinical outcomes for this entity are not yet established.
Purpose of the Study:
- To provide a comprehensive assessment of the clinical, radiologic, and histopathologic features of myxoid glioneuronal tumor, PDGFRA p.K385-mutant.
- To expand the understanding of the clinicopathologic spectrum and potential locations of this tumor.
- To evaluate the clinical outcomes and treatment responses in a series of patients with this tumor.
Main Methods:
- Retrospective analysis of eight cases with myxoid glioneuronal tumor, PDGFRA p.K385-mutant.
- Review of clinical data, radiological imaging, and histopathological findings.
- Correlation of tumor location with clinical presentation, specifically hydrocephalus.
Main Results:
- The tumor, typically found in the septum pellucidum, can also occur in the corpus callosum and periventricular white matter.
- Septum pellucidum tumors were associated with obstructive hydrocephalus; tumors in other locations were not.
- Despite recurrence or dissemination in some patients, all remained alive at follow-up, often after limited resection without adjuvant therapy.
Conclusions:
- This study supports "myxoid glioneuronal tumor, PDGFRA p.K385-mutant" as a distinct CNS tumor entity.
- The spectrum of clinicopathologic and radiologic features is expanded, including new locations and hydrocephalus association.
- Favorable outcomes observed suggest a potentially indolent behavior, even with subtotal resection and no adjuvant therapy.
