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Case of embryonal tumor multilayered rosettes in a patient with neurofibromatosis type 1

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Abstract

Background

ETMR is a unique and highly malignant brain tumor mostly occurring in infants. This report provides a comprehensive overview of the clinical presentation, histological aspects, radiological features, and therapeutic options of ETMR. Being the first report on the co-occurrence of NF1 with ETMR, it highlight the challenges of managing a patient with complex medical conditions.

Case report

We present a case of a 3 and 1/2–year-old girl with neurofibromatosis type 1 (NF1), later diagnosed with a supratentorial brain tumor reported as an embryonal tumor with multilayered rosettes (ETMR), along with possible co-occurrence of constitutional mismatch repair deficiency (CMMRD) on immunohistochemistry (IHC); however, germline testing was not performed. Even though NF1 can be associated with tumors such as gliomas, the literature has no previous case reports of ETMR coexisting with NF1.

Conclusion

Exploring the link between NF1 and ETMR with CMMRD is crucial to improving and establishing more treatment protocols. Therefore, reporting each case’s unique features would be essential in developing appropriate treatment protocols.

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Data availability

No datasets were generated or analyzed during the current study.

Abbreviations

ETMR:

Embryonal tumor with multilayered rosettes

NF1:

Neurofibromatosis type 1

MRI:

Magnetic resonance imaging

AKUH:

Aga Khan Hospital

CMMRD:

Constitutional mismatch repair deficiency

ETANTR:

Embryonal tumors with abundant neuropil and true rosettes

MMR:

Mismatch-repair

CALS:

Café au lait spots

CC:

Craniocaudal

AP:

Anterior-posterior

MPNST:

Malignant peripheral nerve sheath tumors

IHC:

Immunohistochemistry

OPG:

Optic pathway glioma

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Author information

Authors and Affiliations

  1. Section of Pediatric-Oncology, Department of Oncology, Aga Khan University Hospital Karachi, Stadium Road, Karsaz, Karachi, Pakistan

    Soha Zahid, Farrah Bashir & Naureen Mushtaq

  2. Department of Pathology and Laboratory Medicine, Aga Khan University Hospital Karachi, Karachi, Pakistan

    Khurram Minhas

  3. Department of Radiology, Aga Khan University, Karachi, Pakistan

    Kiran Hilal

Authors
  1. Soha Zahid
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  2. Farrah Bashir
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  3. Khurram Minhas
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  4. Kiran Hilal
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  5. Naureen Mushtaq
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Contributions

NM, FB, KM, KH, and SZ conceived the project ideas. KH reviewed the radiology and prepared Figs. 1, 2, and 4. KM did the histopathological analysis and prepared Fig. 3. NM, KH, FB, SZ, and KM provided patient-related materials or clinical data. NM provided overall supervision for the project, and SZ wrote the manuscript.

Corresponding author

Correspondence to Farrah Bashir.

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This is a single case report with no identifiable patient information/characteristics included in the case report and signed informed consent was obtained.

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The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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Zahid, S., Bashir, F., Minhas, K. et al. Case of embryonal tumor multilayered rosettes in a patient with neurofibromatosis type 1. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06442-4

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