Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features
- PMID: 31609499
- PMCID: PMC7780370
- DOI: 10.1111/bpa.12797
Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features
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.
Keywords: PDGFRA; DNT-like tumor of the septum pellucidum; corpus callosum; dysembryoplastic neuroepithelial tumor (DNT); lateral ventricle; molecular neuro-oncology; molecular neuropathology; myxoid glioneuronal tumor; periventricular white matter; platelet-derived growth factor receptor alpha; septal DNT; septum pellucidum.
© 2019 International Society of Neuropathology.
Conflict of interest statement
None of the authors have any conflicts of interest to disclose.
Figures
Similar articles
-
Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series.Neoplasia. 2023 Mar;37:100885. doi: 10.1016/j.neo.2023.100885. Epub 2023 Feb 8. Neoplasia. 2023. PMID: 36764090 Free PMC article.
-
Pediatric septal dysembryoplastic neuroepithelial tumor (sDNT): case-based update.Childs Nerv Syst. 2020 Jun;36(6):1127-1130. doi: 10.1007/s00381-020-04581-y. Epub 2020 Apr 5. Childs Nerv Syst. 2020. PMID: 32249358 Review.
-
A Multifocal Glioneuronal Tumor with RGNT-Like Morphology Occupying the Supratentorial Ventricular System and Infiltrating the Brain Parenchyma.World Neurosurg. 2020 Jan;133:196-200. doi: 10.1016/j.wneu.2019.10.017. Epub 2019 Oct 10. World Neurosurg. 2020. PMID: 31606508
-
Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile.Acta Neuropathol. 2018 Aug;136(2):339-343. doi: 10.1007/s00401-018-1883-2. Epub 2018 Jul 13. Acta Neuropathol. 2018. PMID: 30006677 Free PMC article. No abstract available.
-
Dysembryoplastic neuroepithelial tumor located in pericallosal and intraventricular area in a child. Case report.J Neurosurg Pediatr. 2009 Jun;3(6):456-60. doi: 10.3171/2009.1.PEDS0823. J Neurosurg Pediatr. 2009. PMID: 19485727 Review.
Cited by
-
Insulin therapy in type 2 diabetes: Insights into clinical efficacy, patient-reported outcomes, and adherence challenges.World J Diabetes. 2024 May 15;15(5):828-852. doi: 10.4239/wjd.v15.i5.828. World J Diabetes. 2024. PMID: 38766443 Free PMC article. Review.
-
Enrichment of oligodendrocyte precursor phenotypes in subsets of low-grade glioneuronal tumours.Brain Commun. 2024 May 6;6(3):fcae156. doi: 10.1093/braincomms/fcae156. eCollection 2024. Brain Commun. 2024. PMID: 38764775 Free PMC article.
-
One case of myxoid glioneuronal tumour in the left frontal lobe.BJR Case Rep. 2024 Apr 30;10(3):uaae014. doi: 10.1093/bjrcr/uaae014. eCollection 2024 May. BJR Case Rep. 2024. PMID: 38746650 Free PMC article.
-
PDGFRA K385 mutants in myxoid glioneuronal tumors promote receptor dimerization and oncogenic signaling.Sci Rep. 2024 Mar 26;14(1):7204. doi: 10.1038/s41598-024-57859-5. Sci Rep. 2024. PMID: 38532028 Free PMC article.
-
Imaging of supratentorial intraventricular masses in children: a pictorial review-part 2.Neuroradiology. 2024 May;66(5):699-716. doi: 10.1007/s00234-023-03253-3. Epub 2023 Dec 12. Neuroradiology. 2024. PMID: 38085360 Free PMC article. Review.
References
-
- Baisden BL, Brat DJ, Melhem ER, Rosenblum MK, King AP, Burger PC (2001) Dysembryoplastic neuroepithelial tumor‐like neoplasm of the septum pellucidum: a lesion often misdiagnosed as glioma: report of 10 cases. Am J Surg Pathol 25:494–499. - PubMed
-
- Campos AR, Clusmann H, von Lehe M, Niehusmann P, Becker AJ, Schramm J et al (2009) Simple and complex dysembryoplastic neuroepithelial tumors (DNT) variants: clinical profile, MRI, and histopathology. Neuroradiology 51:433–443. - PubMed
-
- Cervera‐Pierot P, Varlet P, Chodkiewicz JP, Daumas‐Duport C (1997) Dysembryoplastic neuroepithelial tumors located in the caudate nucleus area: report of four cases. Neurosurgery 40:1065–1070. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous