MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient.
Citation: Childs Nervous System. 39(5):1309-1315, 2023 05.PMID: 36648513Department: MedStar Georgetown University Hospital/MedStar Washington Hospital Center | Neurosurgery ResidencyForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: *Brain Neoplasms | *Neoplasms, Neuroepithelial | Brain Neoplasms/su [Surgery] | Cervical Vertebrae/dg [Diagnostic Imaging] | Cervical Vertebrae/pa [Pathology] | Cervical Vertebrae/su [Surgery] | Child | Humans | Infant | Magnetic Resonance Imaging | Male | Mutation/ge [Genetics] | Neoplasms, Neuroepithelial/ge [Genetics] | Neuroimaging | Receptors, LDL/ge [Genetics] | Trans-Activators/ge [Genetics] | Tumor Suppressor Proteins/ge [Genetics] | Year: 2023ISSN:- 0256-7040
CONCLUSION: Our case represents the first report of an infant with an MN1 astroblastoma with APC and LRP1B gene alterations in the cervical spine. Gross total resection paired with a detailed histopathologic analysis is vital for optimizing adjuvant treatment. Copyright � 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
METHODS: A retrospective review of electronic medical records was performed with an emphasis on neuroimaging, perioperative course, and pathological analysis.
PURPOSE: Astroblastomas (AB) are high-grade neoplasms which typically occur within the cerebral hemisphere. However, given the rarity of this neoplasm and the number of variants, the relevance of this molecular makeup is unknown. We sought to describe the clinical presentation, treatment, and pathological analysis of a novel MN1 (meningioma 1) cervical spinal cord astroblastoma variant presenting in a pediatric patient.
RESULTS: An 11-month-old male with no significant history presented with two weeks of neck stiffness and cervicalgia. Neurologically, the patient was intact without signs of infection or trauma. Cervical CT was unremarkable. A subsequent MRI demonstrated a heterogeneously enhancing intramedullary lesion extending from the craniocervical junction to T4. The patient was treated with perioperative steroids and underwent C1-C3 laminectomies and C4-T4 laminotomies for tumor resection. Upon completion of the durotomy, an exophytic gray-red tumor was appreciated within the epidural space and gross total resection was achieved (no change on intraoperative neurophysiological monitoring) and confirmed on post-operative imaging. Immunohistochemical analysis was consistent with an astroblastoma with atypical diffuse positivity of CD56, CD99, and nuclear OLIG2. Molecular analysis revealed not only MN1 alterations but also changes in genes encoding APC and LRP1B. Both alterations were not previously documented to be associated with an astroblastoma.
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