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A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology “high grade neuroepithelial tumor with MN1 alteration” still be relevant?

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Abstract

Introduction

Astroblastoma, MN1-altered (old name: high-grade neuroepithelial tumor/HGNET with MN1 alteration) is a recently described central nervous system tumor mostly affecting pediatric patients and profoundly young girls. Differential pathological diagnoses of these tumors include ependymoma, pleomorphic xanthoastrocytoma, embryonal tumor with multilayered rosettes, meningioma, and even glioblastoma. As the treatment approaches to these tumors differ, it is essential to increase the awareness about these tumors in the neurosurgical community.

Clinical presentation

A 7-year-old female patient admitted with a 7-day history of headache, nausea, and vomiting. A contrasted MRI scan revealed a left parietal 4 × 4 × 5 cm mass with central necrosis and peripheral contrast enhancement. The tumor’s histopathological findings were suggestive of a metastatic carcinoma with unknown primary, yet further genetic analysis revealed MN1 alteration. Peculiarly, the tumor pathomorphological features were not compatible with astroblastomas and exerted features strongly indicating a metastatic cancer; however, systemic PET and whole-body MRI failed to detect a primary malignancy.

Outcome and conclusions

Eighteen months after gross-total tumor resection, an in-field and out-field multifocal recurrence developed which required a second surgery and subsequent chemo-radiotherapy. The patient is doing well for 1 year after the second treatment regimen at the time of this report. Despite the final cIMPACT6 classification in 2020 advised to define all MN1 altered brain tumors as astroblastomas, there exist prognostic differences in MN1-altered tumors with and without morphological features of astroblastoma. Rare morphological variants of MN1-altered tumors shall be recognized for their future prognostic and clinical classification. HGNET with MN1 alteration seems still be a more proper definition of such malignancies as an umbrella term.

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Acknowledgements

We sincerely thank Jason Chiang and Thomas E. Merchant from St. Jude Childrens Research Hospital for the consultation of the case and for analysis of the MN1 alteration.

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Authors and Affiliations

  1. Department of Neurosurgery, Acibadem Maslak Hospital, Istanbul, Turkey

    Ramazan Sari & Ilhan Elmaci

  2. Department of Medical Biochemistry, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey

    Meric A. Altinoz

  3. Department of Radiation Oncology, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey

    Enis Ozyar

  4. Department of Pathology, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey

    Ayca Ersen Danyeli

  5. Department of Neurosurgery, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey

    Ilhan Elmaci

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  1. Ramazan Sari
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Correspondence to Ilhan Elmaci.

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Research involving human participants and/or animals

Only retrospective analysis of the patients’ pathological specimens and radiographical images was reviewed. No further tissue or blood specimens or radiological images were obtained from the patient just for research purposes. The patients’ identity was not disclosed. Hence, no ethical approval was needed according to the rules of local ethical committee. All diagnostic procedures were in accordance with the ethical standards of the Acibadem University Research Committee and with the 1964 Helsinki declaration.

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The patient and a witness signed an informed consent form approving the report of their pathological, radiological, and clinical condition under the above declared conditions.

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The authors declare no competing interests.

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Sari, R., Altinoz, M.A., Ozyar, E. et al. A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology “high grade neuroepithelial tumor with MN1 alteration” still be relevant?. Childs Nerv Syst 37, 2967–2974 (2021). https://doi.org/10.1007/s00381-021-05289-3

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