Neurofibromatosis Type 1 (NF1) Tumor Spectrum

A special issue of Current Oncology (ISSN 1718-7729). This special issue belongs to the section "Neuro-Oncology".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 1871

Special Issue Editors


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Guest Editor
Division of Experimental Hematology and Cancer Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
Interests: NF1; peripheral nerve tumor; nervous system sarcoma; primary cell cultures; flow cytometry analysis

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Guest Editor
Department of Pediatrics, Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA
Interests: neurofibromatosis type 1; cancer biology; innate immune system; genome engineering technologies; drug susceptibility

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Guest Editor
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Interests: pediatric cancers; liquid biopsy/cell free DNA; genomics and epigenetics; neurofibromatosis type 1; cancer predisposition syndromes; bioinformatics

Special Issue Information

Dear Colleagues,

This Special Issue is dedicated to the tumor spectrum associated with Neurofibromatosis Type 1 (NF1), the most common hereditary autosomal disorder, affecting approximately 1 in 2,500 individuals worldwide. The clinical manifestations of NF1 include café au lait spots (skin pigmentation), Lisch nodules, bone deformities, optic pathway gliomas, and low-grade gliomas. The hallmark of NF1 is neurofibroma, which are tumors associated with nerve endings in the skin (cutaneous neurofibromas) or within peripheral nerve trunks (plexiform neurofibromas). Notably, plexiform neurofibromas can transform into atypical neurofibromas and may progress to malignant peripheral nerve sheath tumors (MPNSTs), a leading cause of mortality for individuals with NF1. Despite recent advancements in molecular and cellular research, our understanding of the variability, complexity, and evolution of tumors in NF1 has remained incomplete since the disorder's discovery. The tumor microenvironment plays a critical role in the development of NF1 tumors, alongside genetic modifiers, and interaction networks. This Special Issue will explore the molecular and cellular mechanisms involved in the development of the NF1 tumor spectrum, including cutaneous, plexiform, and atypical neurofibromas, as well as MPNSTs and gliomas. We aim to address both basic and pre-clinical research to enhance our understanding of these complex tumors. Furthermore, we will highlight groundbreaking advancements in diagnostics, emphasizing the crucial role of genetic and molecular profiling in identifying at-risk patients and developing individualized treatment strategies. The issue will also feature discussions on the latest therapeutic innovations—such as targeted therapies, immunotherapies, and multimodal treatment regimens—aimed at improving outcomes for this vulnerable patient population. Additionally, this Special Issue will address important topics such as prognostic factors, survival rates, and the complexities involved in managing the various types of tumors related to NF1. By shedding light on the biology, clinical strategies, and cutting-edge treatments for these NF tumor spectra, this collection aims to enhance understanding and advance the quest for better care for those affected by NF1. We welcome original research articles and reviews.

Dr. Jay Pundavela
Dr. Kyle B. Williams
Dr. R. Taylor Sundby
Guest Editors

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Keywords

  • neurofibromatosis type 1 (NF1)
  • malignant tumors
  • tumor spectrum
  • molecular and cellular mechanisms
  • malignant peripheral nerve sheath tumors (MPNSTs)
  • targeted therapies
  • immunotherapies
  • prognostic factors
  • survival outcomes

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Published Papers (2 papers)

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Review

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50 pages, 2122 KB  
Review
Neurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening
by Stephanie J. Bouley, Benjamin E. Housden and James A. Walker
Curr. Oncol. 2025, 32(11), 649; https://doi.org/10.3390/curroncol32110649 - 20 Nov 2025
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Abstract
Neurofibromatosis type 1 (NF1) is a complex, multisystem, genetic disorder caused by germline NF1 variants that predispose affected individuals to tumors of the nervous system. With the identification of the NF1 gene in the late 1980s and the elucidation of the role of [...] Read more.
Neurofibromatosis type 1 (NF1) is a complex, multisystem, genetic disorder caused by germline NF1 variants that predispose affected individuals to tumors of the nervous system. With the identification of the NF1 gene in the late 1980s and the elucidation of the role of the encoded protein, neurofibromin, in regulating RAS signaling, considerable research effort has been invested to identify therapeutic treatments for NF1 tumors. Over the past two decades, high-throughput drug screening approaches have been a significant component of these endeavors. However, considerable variability exists among studies in terms of disease models, symptom targets, screening libraries, methods, and outcomes. In this review, we present an overall summary of efforts toward discovering new therapeutic strategies for NF1-related tumors using high-throughput screening and how such findings can be employed for prospective research in the NF1 field. Full article
(This article belongs to the Special Issue Neurofibromatosis Type 1 (NF1) Tumor Spectrum)
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25 pages, 324 KB  
Guidelines
Consensus on Malignant and Benign Tumors in Pediatric Patients with Neurofibromatosis Type 1: On Behalf of the Brazilian Society of Pediatric Oncology (SOBOPE)
by Luiz Guilherme Darrigo Junior, Viviane Sonaglio, Sima Esther Ferman, Eliana Caran, Neviçolino Pereira Carvalho Filho, Sidnei Epelman, Vicky Nogueira Pileggi, Julia Lima, Ruth Bartelli Grigolon and Mauro Geller
Curr. Oncol. 2025, 32(12), 664; https://doi.org/10.3390/curroncol32120664 - 27 Nov 2025
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Abstract
Neurofibromatosis type 1 (NF1) is an inherited, autosomal dominant syndrome that affects about 1 in every 3000 people worldwide. Early tumor detection is crucial for surveillance and intervention, especially given the potential for serious complications, including visual impairment, skeletal deformities, and malignancy. Therefore, [...] Read more.
Neurofibromatosis type 1 (NF1) is an inherited, autosomal dominant syndrome that affects about 1 in every 3000 people worldwide. Early tumor detection is crucial for surveillance and intervention, especially given the potential for serious complications, including visual impairment, skeletal deformities, and malignancy. Therefore, it is essential for pediatricians and other healthcare professionals who provide care to these patients to be aware of all signs, treatments, and management strategies to deliver the best possible care. This study aims to develop a consensus for the diagnosis, treatment, and management of benign and malignant tumors associated with pediatric patients with NF1. Delphi methodology was used to achieve consensus among experts on the diagnostic accuracy, therapeutic efficacy, safety, and surveillance of pediatric patients with NF1. The consensus made 24 recommendations: gliomas in the optic pathway—6 statements, non-optical gliomas—2 statements, plexiform neurofibromas—5 statements, malignant peripheral nerve sheath tumors (MPNST)—6 statements, melanoma—1 statement, juvenile myelomonocytic leukemia (JMML)—1 statement, pheochromocytoma and paraganglioma—2 statements, and gastrointestinal stromal tumors (GIST)—1 statement. This consensus represents the first Brazilian recommendations on malignant and benign tumors in pediatric patients with NF1, providing a framework to standardize and optimize the clinical application for this disease. Full article
(This article belongs to the Special Issue Neurofibromatosis Type 1 (NF1) Tumor Spectrum)
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