Neurofibromatosis: Clinical and Genetic Findings

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

Deadline for manuscript submissions: 15 December 2024 | Viewed by 619

Special Issue Editors


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Guest Editor
ENCORE-NF1 Center, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands
Interests: neurofibromatosis; pediatrician; epidemiology; guideline

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Co-Guest Editor
Metropolitana Nord Laboratory, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain
Interests: genetics; immunology; cancer

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Co-Guest Editor
Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy
Interests: optic pathway glioma; children; NF1-associated tumors; clinical trials; MEK inhibitors

Special Issue Information

Dear Colleagues,

Background and importance

Neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (NF2), and non-NF2-related schwannomatosis (SWN) are rare genetic disorders predisposing to the development of various tumors of the central and peripheral nervous systems. Although often benign, these neoplasms can still cause significant morbidity due to their size and/or location and are rarely amenable to surgical resection. It is therefore essential to translate pre-clinical advances into more effective treatment options for many of these tumors. To position these treatments, it is essential to understand the natural course, disease modifiers, and biomarkers. Finally, we are in need of a wider consensus on the preferred main outcomes of these potential treatments, including neurologic morbidity, vision, and ultimately, daily functioning and quality of life.

Goals

In this Special Issue of Cancers, we welcome original research articles and comprehensive review articles focusing on the disease course, disease modifiers, and treatments of tumors in patients with neurofibromatosis type 1, NF2-related schwannomatosis, and non-NF2-related schwannomatosis, aiming for significant advancements in this challenging yet fascinating field.

Dr. Rianne Oostenbrink
Dr. Ignaci Blanco
Dr. Enrico Opocher
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
  • tumor
  • longitudinal history
  • treatment
  • biomarker
  • outcomes

Published Papers (1 paper)

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Research

14 pages, 1161 KiB  
Article
Bevacizumab Treatment for Patients with NF2-Related Schwannomatosis: A Single Center Experience
by Jules P. J. Douwes, Erik F. Hensen, Jeroen C. Jansen, Hans Gelderblom and Josefine E. Schopman
Cancers 2024, 16(8), 1479; https://doi.org/10.3390/cancers16081479 - 12 Apr 2024
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Abstract
(1) Background: NF2-related schwannomatosis, characterized by the development of bilateral vestibular schwannomas, often necessitates varied treatment approaches. Bevacizumab, though widely utilized, demonstrates variable effectiveness on hearing and tumor growth. At the same time, (serious) adverse events have been frequently reported. (2) Methods: [...] Read more.
(1) Background: NF2-related schwannomatosis, characterized by the development of bilateral vestibular schwannomas, often necessitates varied treatment approaches. Bevacizumab, though widely utilized, demonstrates variable effectiveness on hearing and tumor growth. At the same time, (serious) adverse events have been frequently reported. (2) Methods: A single center retrospective study was conducted, on NF2-related schwannomatosis patients treated with bevacizumab from 2013 to 2023, with the aim to assess treatment-related and clinical outcomes. Outcomes of interest comprised hearing, radiologic response, symptoms, and adverse events. (3) Results: Seventeen patients received 7.5 mg/kg bevacizumab for 7.1 months. Following treatment, 40% of the patients experienced hearing improvement, 53%, stable hearing, and 7%, hearing loss. Vestibular schwannoma regression occurred in 31%, and 69% remained stable. Further symptomatic improvement was reported by 41%, stable symptoms by 47%, and worsened symptoms by 12%. Treatment discontinuation due to adverse events was observed in 29% of cases. Hypertension (82%) and fatigue (29%) were most frequently reported, with no occurrences of grade 4/5 toxicities. (4) Conclusion: Supporting previous studies, bevacizumab demonstrated positive effects on hearing, tumor control, and symptoms in NF2-related schwannomatosis, albeit with common adverse events. Therefore, careful consideration of an appropriate management strategy is warranted. Full article
(This article belongs to the Special Issue Neurofibromatosis: Clinical and Genetic Findings)
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