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Open Access Research

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1

Rosa Nguyen12*, Eva Dombi3, Brigitte C Widemann3, Jeffrey Solomon3, Carsten Fuensterer4, Lan Kluwe5, Jan M Friedman6 and Victor-Felix Mautner1

Author Affiliations

1 Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg, Germany

2 Department of Pediatrics, University of Maryland, 22 South Greene Street, Baltimore, MD, 21201, USA

3 Pediatric Oncology Branch, National Cancer Institute, Bethesda, USA

4 Department of Radiology, MRI Institute Hamburg Othmarschen, Hamburg, Germany

5 Department of Maxillo-Facial-Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany

6 Department of Medical Genetics, University of British Columbia, Vancouver, Canada

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Orphanet Journal of Rare Diseases 2012, 7:75  doi:10.1186/1750-1172-7-75

Published: 4 October 2012

Abstract

Background

To examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1).

Methods

Two hundred and one NF1 patients underwent whole body MRI (WBMRI). Tumour burden was estimated volumetrically. Non-parametric Spearman’s rho correlation coefficients were used to analyse the relationship of growth rate to tumour volume and age. Chi-squared and Mann–Whitney U tests were used for analysing the association of tumour occurrence with sex or age. Chi-squared tests were used to analyse the association of tumour growth with age group.

Results

Seventy-one of 171 patients with serial WBMRI exams had internal PNs (median follow up 2.2 years [1.1 to 4.9 years]). Median whole body tumour volume was 86.4 mL [5.2 to 5878.5 mL]) with a median growth rate of 3.7%/year (−13.4 to 111%/year) that correlated with larger whole body tumour volume (P<0.001) and lower age (P=0.004). No new PNs developed in 273.0 patient-years among patients without tumours. Rate of new tumour development among patients with PNs was 0.6%/year (95% confidence interval 0.02 to 3.4%). Twenty-seven (13.5%) tumours increased significantly and were more frequent among children (P<0.001). Growth rate of tumours was inversely correlated with age (Spearman’s rho=−0.330, P<0.001). Seventy-one (35.5%) tumours had smaller volumes on follow up (median −3.4%/year [−0.07% to −35.9%/year]).

Conclusion

Children with NF1 and internal PNs are at risk for tumour growth. Most PNs grow slowly or not at all, and some decrease in size. New tumours are infrequent in NF1 patients with PNs and unlikely in patients without PNs.

Keywords:
MRI scan; Neurofibroma; Plexiform; Neurofibromatosis 1; Tumour burden