Neurofibromatosis 1 phenotype associated to malignant peripheral nerve sheath tumours: a case‐control study. (21st February 2012)

• Record Type: Journal Article
• Authors: Zehou, O.; Bularca, S.; Bastuji‐Garin, S.; Ortonne, N.; Valeyrie‐Allanore, L.; Wolkenstein, P.; Duong, T.A.
• Is Part Of: Journal of the European Academy of Dermatology and Venereology. Volume 27:Number 8(2013:Aug.)
• Page Start: 1044
• Page End: 1047
• Publication Date: 2012-02-21
• Subjects: Dermatology -- Periodicals; Sexually transmitted diseases -- Periodicals; 616.5
• DOI: 10.1111/j.1468-3083.2012.04485.x
• Languages: English
• ISSNs: 0926-9959

Abstract

Abstract: Background Malignant peripheral nerve sheath tumours (MPNSTs) are the main cause of death in neurofibromatosis 1 adult patients. Objectives To determine the clinical type of neurofibromas associated to MPNSTs. Methods Case‐control study. Cases were neurofibromatosis 1 adults with MPNSTs and controls were patients without MPNSTs individually matched by age and sex (1 : 3). Both were recruited from our database. The following variables were studied: clinical presence of cutaneous, subcutaneous or plexiform neurofibromas and of internal neurofibromas. Internal neurofibromas were confirmed by clinical imaging. Multivariate odds ratios (aORs) were estimated with their 95% confidence interval (CI). Results From January 1995 to December 2007, 52 patients (cases) were identified with a MPNSTs, 155 controls could be recruited. In the multivariate analysis, MPNSTs were significantly associated with the presence of internal NFs (aOR: 7.5; 95% CI: 3.2–17.4), a trend for an association was observed for the presence of subcutaneous neurofibromas (aOR: 2.11; 95% CI: 0.89–5). Conclusions This study confirms the association between the MPNSTs and the internal neurofibromas. The later are indeed associated with a high risk of malignant transformation.