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MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient

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Abstract

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.

Methods

A retrospective review of electronic medical records was performed with an emphasis on neuroimaging, perioperative course, and pathological analysis.

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.

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.

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Availability of data and material

There is no associated data for this study.

Abbreviations

AB:

Astroblastoma

MN1:

Meningioma 1

AML:

Acute myeloid leukemia

APC:

Adenomatous polyposis coli

LRP1B:

Low-density lipoprotein receptor-related protein 1B

IHC:

Immunohistochemical

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Authors and Affiliations

  1. Department of Neurosurgery, Children’s National Medical Center, Washington, DC, USA

    Luke Mugge, Kristen Stabingas, Gregory Keating & Robert Keating

  2. Department of Neurosciences, Inova Neuroscience and Spine Institute, 3300 Gallows Road, Falls Church, VA, 22042, USA

    Luke Mugge & Danielle D. Dang

  3. Department of Neurosurgery, MedStar Georgetown University Hospital, Washington, DC, USA

    Gregory Keating

  4. Department of Pathology, Children’s National Medical Center, Washington, DC, USA

    Christopher Rossi

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  1. Luke Mugge
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Contributions

Luke Mugge – project concept, manuscript preparation, figures preparation. Danielle Dang – background research, manuscript preparation, figures preparation. Kristen Stabingas – manuscript preparation. Gregory Keating – provided clinical care, prepared figures. Christopher Rossi – pathological analysis. Robert Keating – project concept, project supervisor. All authors reviewed the manuscript in its final version.

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Correspondence to Luke Mugge.

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Mugge, L., Dang, D.D., Stabingas, K. et al. MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient. Childs Nerv Syst 39, 1309–1315 (2023). https://doi.org/10.1007/s00381-022-05795-y

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