RT Journal Article
SR Electronic
T1 Demographical Profile and Spectrum of Multiple Malignancies in Children and Adults with Neurocutaneous Disorders
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 5453
OP 5457
DO 10.21873/anticanres.12877
VO 38
IS 9
A1 AGATA MARJANSKA
A1 AGNIESZKA JATCZAK-GACA
A1 AGNIESZKA WOJTKIEWICZ
A1 MARIUSZ WYSOCKI
A1 JAN STYCZYNSKI
YR 2018
UL http://ar.iiarjournals.org/content/38/9/5453.abstract
AB Background/Aim: Neurocutaneous disorders, also referred as phacomatoses, are congenital disorders manifesting at different ages with central nervous system and cutaneous abnormalities. Analysis of the demographic and clinical profile of patients with phacomatoses in the context of the incidence and spectrum of malignancy. Materials and Methods: This is a retrospective analysis of 20 years of data in a single-center study in Poland. Results: Phacomatoses were diagnosed in 45.6% (913/2,003) of referred patients, including 61.4% children. The distribution of phacomatoses included: neurofibromatosis type 1 (NF1) in 92.4%, tuberous sclerosis complex (TSC) 3.9%, neurofibromatosis type 2 (NF2) 2.0%, Klippel-Trenaunay syndrome 0.5%, Von Hippel-Lindau syndrome 0.5%, and other sporadic diseases 0.7%. Non-phacomatosis patients were diagnosed mainly for cafe-au-lait-macules (42.8%). The frequency of malignancy was 9.4% (86/913), including 9.1% in patients with NF1; 27.8% in NF2; and 8.3% in TSC. Multiple malignancies were diagnosed in 0.7% and 7% of all phacomatosis and malignancy-diagnosed patients, respectively. Conclusion: The risk of malignancy in patients with phacomatoses was 21.3-fold higher than in the general population. The risk of secondary malignancy was 7%.