Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1

Neurofibromatosis 1 (NF1) is the most common cancer predisposition syndrome and is characterized by a wide range of clinical manifestations, including increased risk of developing various types of malignancies. We report nine patients with NF1 who presented with concurrent diagnoses of juvenile myelomonocytic leukemia and low-grade glioma, a rare combination. One notable feature of this cohort is that eight patients (89%) harbored nonsense germline NF1 variants. This case series highlights the emergence of synchronous or metachronous malignancies in children with NF1 and provides a rationale for heightened awareness of this phenomenon.

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Publication Details

Journal
Pediatric Blood & Cancer
Published
2025-12-27
DOI
https://doi.org/10.1002/1545-5017.70060
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
Field-Weighted Citation Impact
0.00

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article

Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1

Marianne Hoffmann, Christian Flotho, R Meisel, Elliot Stieglitz et al.
Pediatric Blood & Cancer
Neurofibromatosis and Schwannoma Cases
article

Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1

Marianne Hoffmann, Christian Flotho, R Meisel, Elliot Stieglitz, Henry Hongo, Alicia Lenzen, Alix E. Seif, Claas Röhl, Barbara Spitzer, Michael Dworzak, Sarah K. Tasian, Jenna Rossoff
article en

Abstract

Neurofibromatosis 1 (NF1) is the most common cancer predisposition syndrome and is characterized by a wide range of clinical manifestations, including increased risk of developing various types of malignancies. We report nine patients with NF1 who presented with concurrent diagnoses of juvenile myelomonocytic leukemia and low-grade glioma, a rare combination. One notable feature of this cohort is that eight patients (89%) harbored nonsense germline NF1 variants. This case series highlights the emergence of synchronous or metachronous malignancies in children with NF1 and provides a rationale for heightened awareness of this phenomenon.

Pediatric Blood & CancerVol. 73(2)
Hackensack University Medical Center (US), Children's Hospital of Philadelphia (US), University of Freiburg (DE), Loma Linda University (US), Copenhagen University Hospital (DK), St Anna Children's Hospital (AT), Lurie Children's Hospital (US), UCSF Benioff Children's Hospital (US), UCSF Helen Diller Family Comprehensive Cancer Center (US), St. Anna Children's Cancer Research Institute, Heinrich Heine University Düsseldorf (DE), Medical University of Vienna (AT), University of Pennsylvania (US)
Alex's Lemonade Stand Foundation for Childhood Cancer, Children's Hospital of Philadelphia, Bundesministerium für Bildung und Forschung, National Institutes of Health, National Cancer Institute
Good health and well-being
Openalex Percentile: Top 30%
Neurofibromatosis and Schwannoma Cases
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