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The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors

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Abstract

Purpose

Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS-HGNET-MN1) is a rare entity defined by its DNA methylation pattern and pathologically considered to be high-grade with mixed patterns, stromal hyalinization, and with astrocytic differentiation. Our aim was to present six pediatric cases to contribute to the characterization of this group of tumors.

Material and methods

Six female patients aged 4 to 12 years with CNS tumors with MN1 alteration identified using genome-wide methylation arrays and/or RT-PCR were included. Clinicopathological, morphological, immunohistochemical, and molecular findings were analyzed.

Results

Tumor location was the parietal lobe in four and the intramedullary spinal cord in two. Two were morphologically diagnosed as ependymomas, one as gliofibroma, one as a HGNET-MN1 altered and the other two were difficult to classify. All were well-defined tumors, with a cystic component in three. Only two tumors had extensive stromal hyalinization, three had pseudopapillary formations, and four had other patterns. Multinucleated, clear, and rhabdoid cells were present. Necrosis and histiocyte clusters were also observed. Proliferative index was >10 in four. GFAP, EMA, CK, and SYN were variable, while Olig2 staining was mostly positive. Four of six patients with supratentorial tumors and complete resections were alive and tumor free after 2 to 10 years of follow-up. The two cases with medullary involvement and incomplete resections were alive and undergoing treatment 2 years after surgery.

Conclusion

Neuroepithelial-MN1 tumors are challenging and suspicion requires molecular confirmation. Our pediatric data contribute to the knowledge for accurate diagnosis.

Although further studies with a larger number of cases should be conducted in order to draw more robust conclusions regarding clinico-pathological features, here we present valuable pediatric data to increase the knowledge that may lead to the accurate management of this group of tumors.

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Abbreviations

FFPE:

Formalin-fixed, paraffin-embedded

MRI:

Magnetic resonance imaging

CT:

Computed tomography

HPF:

High-power fields

PXA:

Pleomorphic xanthoastrocytoma

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Authors and Affiliations

  1. Department of Pathology, Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina

    Fabiana Lubieniecki, Valeria Vazquez, Gabriela S. Lamas & Sandra Camarero

  2. Precision Medicine, Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina

    Felipe J. Nuñez

  3. Fundación Instituto Leloir-CONICET (IIBBA), Buenos Aires, Argentina

    Felipe J. Nuñez

  4. Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET- Universidad Austral, Buenos Aires, Argentina

    Felipe J. Nuñez

  5. Department of Hematology/Oncology, Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina

    Lorena Baroni & Daniel Alderete

  6. Department of Pediatric Hematology and Oncology, University Medical Center, 20246, Hamburg-EppendorfHamburg, Germany

    Ulrich Schüller

  7. Institute of Neuropathology, University Medical Center, 20246, Hamburg-EppendorfHamburg, Germany

    Ulrich Schüller

  8. Research Institute Children’s Cancer Center Hamburg, 20251, Hamburg, Germany

    Ulrich Schüller

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  1. Fabiana Lubieniecki
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Correspondence to Fabiana Lubieniecki.

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Lubieniecki, F., Vazquez, V., Lamas, G.S. et al. The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors. Childs Nerv Syst 39, 379–386 (2023). https://doi.org/10.1007/s00381-022-05741-y

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