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Articles linked to this work by shared authors, journal, and citation graph.

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Outcome measures for cutaneous neurofibromas in NF1: Insights from an international study.

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Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets.

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Disease burden and unmet needs in adults with neurofibromatosis type 1 and plexiform neurofibromas: A systematic literature review.

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Clinical benefits of selumetinib in adults with neurofibromatosis type 1 - Authors' reply.

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[Neurofibromatosis type 1: recent advances].

Laura Fertitta1, Pierre Wolkenstein2

  • 1Service de dermatologie, Centre de référence des neurofibromatoses (CERENEF), hôpital universitaire Henri-Mondor, Créteil, France. Inserm U955 équipe 9, IMRB, Créteil, France.

La Revue Du Praticien
|June 23, 2025
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Summary

Recent research on Neurofibromatosis type 1 (NF1) has improved diagnosis and management. Future therapies aim to treat NF1 tumors and prevent malignant transformation.

Keywords:
Neurofibromatoses

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Area of Science:

  • Genetics and rare diseases
  • Oncology
  • Clinical medicine

Background:

  • Neurofibromatosis type 1 (NF1) is a genetic disorder.
  • NF1 affects multiple systems and can lead to tumor development.

Purpose of the Study:

  • To review recent advancements in NF1 research.
  • To highlight progress in diagnosis, screening, and management.
  • To discuss future therapeutic strategies for NF1-associated tumors.

Main Methods:

  • Comprehensive literature review of NF1 research.
  • Analysis of findings from French and international research groups.
  • Synthesis of current and emerging therapeutic approaches.

Main Results:

  • Significant progress in diagnostic accuracy and screening protocols for NF1.
  • Improved management strategies for individuals with NF1.
  • Identification of promising therapeutic targets for plexiform and cutaneous neurofibromas.

Conclusions:

  • Recent research has substantially advanced the understanding and care of NF1.
  • Future research holds promise for novel therapies targeting NF1 tumors and their malignant progression.