Advances in Neurofibromatosis

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 994

Special Issue Editors


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Guest Editor
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
Interests: neurofibromatosis; schwannomatosis; rare genetic disorders; clinical molecular genetics and cytogenetics; bioinformatics

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Guest Editor
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
Interests: neurofibromatosis; schwannomatosis; molecular diagnosis; disease models

Special Issue Information

Dear Colleagues,

Neurofibromatosis (NF) is a group of genetic disorders characterized by neurological and cutaneous manifestations. It includes neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (previously known as neurofibromatosis type 2 or NF2), SMARCB1- and LZTR1-related schwannomatosis, and schwannomatosis without NF2, SMARCB1, and LZTR1 pathogenic variants in the blood. Recent advancements in NF research have brought new hope and improved outcomes for individuals affected by these complex genetic disorders.

This Special Issue aims to showcase the latest research on NF. We invite you to share your research and insights through original research articles and reviews.

Potential research areas for this Special Issue include, but are not limited to, the following:

  • Molecular and genetic mechanisms underlying NF;
  • Novel phenotype-genotype correlations in NF;
  • Novel methods and recommendations for variant classification in genes associated with NF;
  • Innovative diagnostic techniques in NF;
  • Novel therapeutic targets in NF;
  • Novel biomarkers for NF;
  • Clinical trials exploring innovative therapeutic approaches for NF patients;
  • Guidelines for the diagnosis and management of NF.

If you have any questions or require further information or assistance, please do not hesitate to reach out to us. We are here to support and facilitate your participation in this Special Issue. We look forward to receiving your submissions.

Dr. Yunjia Chen
Dr. Yulong Fu
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurofibromatosis
  • schwannomatosis
  • NF1
  • NF2
  • SMARCB1
  • LZTR1

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Published Papers (1 paper)

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17 pages, 2110 KB  
Article
Repair of Mutated NF1 mRNA with Trans-Splicing Group I Intron Ribozymes
by André Leier, Xu Han, Jehanne Aghzadi, Erik Westin, Jian Liu, Tatiana T. Marquez Lago, Robert A. Kesterson, Bruce R. Korf, Deeann Wallis and Ulrich F. Müller
Cancers 2025, 17(17), 2749; https://doi.org/10.3390/cancers17172749 - 23 Aug 2025
Viewed by 554
Abstract
Background/Objectives: Therapeutic strategies for Neurofibromatosis Type I (NF1) that correct the underlying pathogenic NF1 variant hold promise for restoring neurofibromin function, reducing tumor burden, and improving patient outcomes by addressing the root cause of the disease rather than its symptoms. Beyond gene editing, [...] Read more.
Background/Objectives: Therapeutic strategies for Neurofibromatosis Type I (NF1) that correct the underlying pathogenic NF1 variant hold promise for restoring neurofibromin function, reducing tumor burden, and improving patient outcomes by addressing the root cause of the disease rather than its symptoms. Beyond gene editing, transcript reprogramming via RNA trans-splicing has gained attention, particularly with the recent FDA approval of two trans-splicing-based drugs for IND phase 1/2a trials. This study tests whether trans-splicing group I intron ribozymes from Tetrahymena thermophila can be used to repair pathogenic variants of NF1 (pre-)mRNA by 3′-tail replacement. Methods: Splice sites on the NF1 mRNA were identified computationally and validated biochemically, and an efficiency-enhancing Extended Guide Sequence (EGS) of the corresponding ribozyme was identified in a combinatorial experiment. Results: The correct trans-splicing product of this ribozyme was validated in HEK293 NF1−/− cells expressing mNf1. Conclusions: This study established a splice site and activity-enhancing extended guide sequences for the repair of NF1 mRNA. Further optimization of the ribozyme, as well as improved delivery methods, may establish ribozyme-based RNA repair as a viable strategy for NF1 treatment. Full article
(This article belongs to the Special Issue Advances in Neurofibromatosis)
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