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Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation

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Abstract

Introduction

Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy. mTORi have also been shown to be an alternative for surgery treating SEGAs. We describe several cases of resected tubers that contained SEGA tissue without an intraventricular SEGA.

Methods

After institutional review board (IRB) protocol approval, we retrospectively reviewed the surgical-pathological data for all TSC patients who underwent cortical resections for treatment of refractory epilepsy at NYU Langone Medical Center and Tel Aviv Medical Center between 2003 and 2013. Data included demographics, epilepsy type, MRI characteristics, epilepsy outcome, and histopathological staining.

Results

We reviewed cortical resections from 75 patients with complete pathological studies. In three patients, cortical lesions demonstrated histopathological findings consistent with a SEGA within the resected tuber tissue, with no intraventricular SEGA. All lesions were cortically based and none had any intraventricular extension. No patient had been treated before surgery with an mTORi. Two of the three patients remain Engel grade I–II. All lesions stained positive for glial fibrillary acidic protein (GFAP), synaptophysin, and neuronal nuclear antigen (NeuN).

Conclusion

This is the first description of cortical tubers harboring SEGA tissue. This observation though preliminary may suggest a subgroup of patients with intractable epilepsy in whom mTORi may be considered before surgical intervention.

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Abbreviations

TSC:

Tuberous sclerosis complex

SEN:

Subependymal nodules

SEGA:

Subependymal giant cell astrocytomas

mTORi:

Mammalian target of rapamycin inhibitors

GFAP:

Glial fibrillary acidic protein

AED:

Antiepileptic drugs

FLAIR:

Fluid-attenuated inversion recovery

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Author information

Authors and Affiliations

  1. Department of Neurosurgery, OhioHealth, Grant and Riverside Medical Center, 111 S Grant Avenue, Columbus, OH, 43215, USA

    Joel S. Katz

  2. Department of Neurosurgery, Division of Pediatric Neurosurgery, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA

    Hyman Frankel, Tracy Ma & David Zagzag

  3. Department of Pathology, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA

    David Zagzag & Benjamin Liechty

  4. Pediatric Neurology Unit, Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, 52621, Tel Hashomer, Israel

    Bruria Ben Zeev & Michal Tzadok

  5. Comprehensive Epilepsy Center, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA

    Orrin Devinsky

  6. Department of Neurosurgery, Texas Children’s Hospital, 6701 Fannin Street, Suite 1230.01, Houston, TX, 77030, USA

    Howard L. Weiner

  7. Department of Pediatric Neurosurgery Dana Children’s Hospital, Tel Aviv Medical Center, 6 Weizman Street, 64239, Tel Aviv, Israel

    Jonathan Roth

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  1. Joel S. Katz
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  2. Hyman Frankel
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  10. Jonathan Roth
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Correspondence to Jonathan Roth.

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The authors declare that they have no conflict of interest.

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Previously presented

Portions of this work were presented in abstract presentation form at the 43rd Annual Meeting of the AANS/CNS Section on Pediatric Neurological Surgery; Amelia Island, FL, Dec 2014.

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Katz, J.S., Frankel, H., Ma, T. et al. Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. Childs Nerv Syst 33, 601–607 (2017). https://doi.org/10.1007/s00381-017-3335-z

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  • DOI: https://doi.org/10.1007/s00381-017-3335-z

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