Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour
by
, , , , and
Maria Pia Iasella
1,†, 
Dries Ruttens
2,3,†,
Daphne Hompes
4,
Vincent Vandecaveye
5,
Raf Sciot
6,
Christophe Deroose
7,
Thomas Douchy
4,
Thomas Decramer
8,
Sandra Jacobs
2,
Ellen Denayer
1,
Frank Van Calenbergh
8,
Eric Legius
1
and
Hilde Brems
1,* 1
Centre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium
2
Department of Paediatric Oncology, University Hospitals Leuven, 3000 Leuven, Belgium
3
Department of Paediatric Oncology, Princess Máxima Centre for Pediatric Oncology, 3584 CS Utrecht, The Netherlands
4
Department of Surgical Oncology, University Hospitals Leuven, 3000 Leuven, Belgium
5
Radiology Department, University Hospitals Leuven, 3000 Leuven, Belgium
6
Department of Pathology, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium
7
Nuclear Medicine, University Hospitals Leuven, and Nuclear Medicine and Molecular Imaging, Department of Imaging and Pathology, KU Leuven, 3000 Leuven, Belgium
8
Department of Neurosurgery, University Hospitals Leuven, 3000 Leuven, Belgium
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Cancers 2025, 17(8), 1306; https://doi.org/10.3390/cancers17081306
Submission received: 6 March 2025
/
Revised: 3 April 2025
/
Accepted: 4 April 2025
/
Published: 12 April 2025
(This article belongs to the Special Issue Neurofibromatosis)
Simple Summary
Neurofibromatosis type 1 is one of the most common cancer predisposition syndromes, with affected individuals facing an increased risk of various benign and malignant tumours. Among these, malignant peripheral nerve sheath tumours are the leading cause of cancer-related mortality in NF1 patients. Complete surgical removal is necessary for a cure, but this is often unfeasible due to the tumour’s extensive growth and challenging anatomical location. Malignant peripheral nerve sheath tumours frequently arise from pre-existing plexiform neurofibromas, often progressing through a premalignant stage known as atypical neurofibromatous neoplasm of uncertain biologic potential. Unlike malignant peripheral nerve sheet tumours, these lesions can be effectively treated with surgical excision using minimal resection margins, preventing malignant transformation. Our retrospective study provides evidence supporting the benefits of strict surveillance through whole-body imaging. By enabling early detection and timely surgical intervention for premalignant lesions, this approach can significantly reduce progression to malignancy, ultimately improving both morbidity and mortality in these patients.
Excerpt
Note: In lieu of an abstract, this is an excerpt from the first page.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a birth incidence of one in 2000 to one in 3000 [...]
Keywords:
neurofibromatosis type 1; WB-DW/MRI; ANNUBP; MPNST
