Heterogeneous clinicopathological findings and patient-reported outcomes in adults with MN1 -altered CNS tumors: A case report and systematic literature review
The uncommon -altered primary central nervous system (CNS) tumors were recently added to the World Health Organization 2021 classification under the name Astroblastoma, -altered. Another term used to describe them, "High-grade neuroepithelial tumor with alteration" (HGNET-MN1), makes refer...
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Published in | Frontiers in oncology Vol. 13; p. 1099618 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Frontiers Media S.A
19.01.2023
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Subjects | |
Online Access | Get full text |
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Summary: | The uncommon
-altered primary central nervous system (CNS) tumors were recently added to the World Health Organization 2021 classification under the name Astroblastoma,
-altered. Another term used to describe them, "High-grade neuroepithelial tumor with
alteration" (HGNET-MN1), makes reference to their distinct epigenetic profile but is currently not a recommended name. Thought to occur most commonly in children and predominantly in females,
-altered CNS tumors are associated with typical but not pathognomonic histological patterns and are characterized by a distinct DNA methylation profile and recurrent fusions implicating the
(meningioma 1) gene. Diagnosis based on histological features alone is challenging: most cases with morphological features of astroblastoma (but not all) show these molecular features, whereas not all tumors with
fusions show astroblastoma morphology. There is large variability in reported outcomes and detailed clinical and therapeutic information is frequently missing. Some patients experience multiple recurrences despite multimodality treatment, whereas others experience no recurrence after surgical resection alone, suggesting large clinical and biological heterogeneity despite unifying epigenetic features and recurrent fusions. In this report, we present the demographics, tumor characteristics, treatment, and outcome (including patient-reported outcomes) of three adults with
-altered primary CNS tumors diagnosed
genome-wide DNA methylation and RNA sequencing. All three patients were females and two of them were diagnosed as young adults. By reporting our neuropathological and clinical findings and comparing them with previously published cases we provide insight into the clinical heterogeneity of this tumor. Additionally, we propose a model for prospective, comprehensive, and systematic collection of clinical data in addition to neuropathological data, including standardized patient-reported outcomes. |
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Bibliography: | Edited by: Ignazio Gaspare Vetrano, IRCCS Carlo Besta Neurological Institute Foundation, Italy This article was submitted to Neuro-Oncology and Neurosurgical Oncology, a section of the journal Frontiers in Oncology Reviewed by: Murat Gokden, University of Arkansas for Medical Sciences, United States; Jens Schittenhelm, University of Tübingen, Germany; Jacopo Falco, IRCCS Carlo Besta Neurological Institute Foundation, Italy; Eyas M. Hattab, University of Louisville, United States |
ISSN: | 2234-943X 2234-943X |
DOI: | 10.3389/fonc.2023.1099618 |