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Glioma-like proliferation within tissues excised as tubers in patients with tuberous sclerosis complex

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Abstract

We describe diffuse glioma-like infiltrates in excised tubers in five out of forty Tuberous sclerosis complex (TSC) patients undergoing excision of a tuber at our institution within the last 10 years. All patients presented with refractory seizures. Resection specimens from four patients had the pathognomonic histologic features of neuroglial hamartomas (tubers) and in one case there was cortical microdysgenesis lacking cells typical of TSC. All lesions were associated with an infiltrate of atypical, mostly elongate, glioma-like small cells, which were immunoreactive for GFAP in three, and pS6 (a marker for activity of the mTOR pathway), in two cases. MAP-2 and CD34, were negative and MIB-1 (Ki67) immunostains ranged from <1–21%. Array-based comparative genomic hybridization revealed that these proliferative phenomena were associated with 21 different copy number aberrations in comparison with a tuber without atypical infiltrates. Postoperatively (follow-up period ranging from 8 to 34 months) none of the patients have any evidence of a glioma. We report that tubers resected for treatment of seizures are sometimes associated with glioma-like lesions, which are indistinguishable from infiltrating gliomas by morphology and immunohistochemistry. Genomic analysis with SNP arrays revealed copy number changes which may be associated with the pathogenesis of such infiltrates.

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Acknowledgments

Martha-Eugenia Ruiz-Tachiquín has a postdoctoral fellowship from Instituto Mexicano del Seguro Social (IMSS).

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  1. Douglas C. Miller

    Present address: Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, MO, 65212, USA

Authors and Affiliations

  1. Department of Pathology, New York University School of Medicine, New York, NY, USA

    Ingeborg Fischer, Clare Cunliffe, Luis Chiriboga & Douglas C. Miller

  2. Department of Neurosurgery, New York University School of Medicine, New York, NY, USA

    Robert J. Bollo, Howard L. Weiner & Douglas C. Miller

  3. Department of Neurology, New York University School of Medicine, New York, NY, USA

    Orrin Devinsky

  4. Department of Microbiology, New York University School of Medicine, New York, NY, USA

    Martha-Eugenia Ruiz-Tachiquin, Toni Venuto & Robert J. Schneider

  5. Human Genetics Program, Department of Pediatrics, New York University School of Medicine, New York, NY, USA

    Alexander Pearlman & Harry Ostrer

  6. Kaplan Cancer Center, New York University School of Medicine, New York, NY, USA

    Luis Chiriboga & Douglas C. Miller

  7. Department of Pathology, Division of Neuropathology, New Bellevue Hospital 4N-30, New York, NY, 10016, USA

    Ingeborg Fischer

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Fischer, I., Cunliffe, C., Bollo, R.J. et al. Glioma-like proliferation within tissues excised as tubers in patients with tuberous sclerosis complex. Acta Neuropathol 116, 67–77 (2008). https://doi.org/10.1007/s00401-008-0391-1

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