Case Reports

. 2025 Jun 4;41(1):202.

doi: 10.1007/s00381-025-06864-8.

Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma

Bertrand Dion^#¹, Sayanthen Sathyakumar^#², Jacob Silverman³, Hallie Coltin^{4

5}, Geneviève Legault^{6

7}, Sébastien Perreault^{5

8}, Myreille D'Astous⁹, Nathalie Lessard¹⁰, Stephan Saikali¹¹, Norbert Dion^{12

13}, Sebastiano Lava¹⁴, Eric Bouffet^{15

16}, Nada Jabado^{17

18}, Samuele Renzi^{19

20}

Affiliations

¹ Faculty of Medicine, Université Laval, Québec, Canada.
² University of Toronto, Toronto, ON, Canada.
³ McGill Faculty of Medicine and Health Science, Montreal, Québec, Canada.
⁴ Division of Hematology-Oncology, CHU Sainte Justine, Université de Montréal, Montréal, Québec, Canada.
⁵ Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada.
⁶ Department of Pediatrics, Division of Neurology, Montreal Children's Hospital-McGill University Health Center, Montreal, Québec, Canada.
⁷ The Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.
⁸ Division of Pediatric Neurology, Department of Neurosciences, CHU Sainte-Justine, Montreal, Québec, Canada.
⁹ Service de Neurochirurgie du Département de Chirurgie, CHU de Québec-Université Laval, Quebec City, Québec, Canada.
¹⁰ Department of Radio-oncology, CHU de Québec-Université Laval, Quebec City, Québec, Canada.
¹¹ Division of Molecular Biology, Medical Biochemistry and Pathology, CHU de Québec - Université Laval, Quebec City, Québec, Canada.
¹² Department of Surgery, Division of Orthopedic Surgery, CHU de Quebec-Universite Laval, Quebec City, Québec, Canada.
¹³ Department of Surgery, Faculty of Medicine, Laval University, Quebec City, QC, Canada.
¹⁴ Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, and University of Lausanne, Lausanne, Switzerland.
¹⁵ The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁶ Division of Haematology/Oncology, Department of Pediatrics, The Hospital for Sick Children , Toronto, ON, Canada.
¹⁷ Division of Experimental Medicine, Montreal Children's Hospital, McGill University and McGill University Health Centre, Montreal, Québec, Canada.
¹⁸ Department of Pediatrics, McGill University, Montreal, Québec, Canada.
¹⁹ Division of Hemato-Oncology, CHU de Québec-Université Laval, 2705, Boulevard Laurier, Quebec City, G1V 4G2, QC, Canada. Samuele.Renzi.med@ssss.gouv.qc.ca.
²⁰ Department of Pediatrics, Laval University, Quebec City, QC, Canada. Samuele.Renzi.med@ssss.gouv.qc.ca.

^# Contributed equally.

PMID: 40461678
DOI: 10.1007/s00381-025-06864-8

Case Reports

Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma

Bertrand Dion et al. Childs Nerv Syst. 2025.

. 2025 Jun 4;41(1):202.

doi: 10.1007/s00381-025-06864-8.

Authors

Affiliations

¹ Faculty of Medicine, Université Laval, Québec, Canada.
² University of Toronto, Toronto, ON, Canada.
³ McGill Faculty of Medicine and Health Science, Montreal, Québec, Canada.
⁴ Division of Hematology-Oncology, CHU Sainte Justine, Université de Montréal, Montréal, Québec, Canada.
⁵ Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada.
⁶ Department of Pediatrics, Division of Neurology, Montreal Children's Hospital-McGill University Health Center, Montreal, Québec, Canada.
⁷ The Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.
⁸ Division of Pediatric Neurology, Department of Neurosciences, CHU Sainte-Justine, Montreal, Québec, Canada.
⁹ Service de Neurochirurgie du Département de Chirurgie, CHU de Québec-Université Laval, Quebec City, Québec, Canada.
¹⁰ Department of Radio-oncology, CHU de Québec-Université Laval, Quebec City, Québec, Canada.
¹¹ Division of Molecular Biology, Medical Biochemistry and Pathology, CHU de Québec - Université Laval, Quebec City, Québec, Canada.
¹² Department of Surgery, Division of Orthopedic Surgery, CHU de Quebec-Universite Laval, Quebec City, Québec, Canada.
¹³ Department of Surgery, Faculty of Medicine, Laval University, Quebec City, QC, Canada.
¹⁴ Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, and University of Lausanne, Lausanne, Switzerland.
¹⁵ The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁶ Division of Haematology/Oncology, Department of Pediatrics, The Hospital for Sick Children , Toronto, ON, Canada.
¹⁷ Division of Experimental Medicine, Montreal Children's Hospital, McGill University and McGill University Health Centre, Montreal, Québec, Canada.
¹⁸ Department of Pediatrics, McGill University, Montreal, Québec, Canada.
¹⁹ Division of Hemato-Oncology, CHU de Québec-Université Laval, 2705, Boulevard Laurier, Quebec City, G1V 4G2, QC, Canada. Samuele.Renzi.med@ssss.gouv.qc.ca.
²⁰ Department of Pediatrics, Laval University, Quebec City, QC, Canada. Samuele.Renzi.med@ssss.gouv.qc.ca.

^# Contributed equally.

PMID: 40461678
DOI: 10.1007/s00381-025-06864-8

Abstract

We report the case of a 25-year-old female patient with neurofibromatosis type 1 who was diagnosed with a thalamic high-grade glioma (HGG). She was initially treated with a combination of radiotherapy and concurrent temozolomide (TMZ). Following 7 months of TMZ treatment, an MRI showed tumor progression. Empiric treatment with trametinib was started, which demonstrated significant regression of the lesion. She is currently alive with stable disease 4 years post-initial diagnosis.

Keywords: HGAP; High-grade glioma (HGG); Neurofibromatosis type 1 (NF1); Targeted therapy; Trametinib.

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Conflict of interest statement

Declarations. Conflict of interest: The authors declare no competing interests.

References

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1. Sathyakumar S, Martinez M, Perreault S, Legault G, Bouffet E, Jabado N, Larouche V, Renzi S (2024) Advances in pediatric gliomas: from molecular characterization to personalized treatments. Eur J Pediatr 183(6):2549–2562. https://doi.org/10.1007/s00431-024-05540-4 - DOI - PubMed
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1. Spyris CD, Castellino RC, Schniederjan MJ, Kadom N (2019) High-grade gliomas in children with neurofibromatosis type 1: literature review and illustrative cases. AJNR Am J Neuroradiol 40(2):366–369. https://doi.org/10.3174/ajnr.A5888 - DOI - PubMed - PMC
1. D’Angelo F, Ceccarelli M, Tala GL, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Iavarone A et al (2019) The molecular landscape of glioma in patients with neurofibromatosis 1. Nat Med 25(1):176–187. https://doi.org/10.1038/s41591-018-0263-8 - DOI - PubMed

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Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma

Affiliations

Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous