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07-05-2024 | Neurofibromatosis Type 1 | Case Report

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

Authors: Soha Zahid, Farrah Bashir, Khurram Minhas, Kiran Hilal, Naureen Mushtaq

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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Title: Case of embryonal tumor multilayered rosettes in a patient with neurofibromatosis type 1
Authors: Soha Zahid
Farrah Bashir
Khurram Minhas
Kiran Hilal
Naureen Mushtaq
Publication date: 07-05-2024
Publisher: Springer Berlin Heidelberg
Keywords: Neurofibromatosis Type 1
Brain Tumor
Glioma
Glioma
Glioma
Published in: Child's Nervous System
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-024-06442-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case report

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case report

Conclusion

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