Evaluation of the Clinical Profile and Malignancies in Children With Neurofibromatosis Type 1

Abstract

Purpose: Neurofibromatosis type 1 (NF 1) is a significant disease as it is one of the most common autosomal dominant disorders in childhood. Several systems are affected due to significant progression. This study aimed to analyze the clinical findings in children with NF 1 and investigate the characteristics of those with malignancy. Methods: Medical records of 55 children with NF 1 that were followed up for ten years (2004-2015) in our center were analyzed. We assessed clinical and demographical characteristics of patients, presence NF 1 diagnostic criteria, NF 1 related complications, and malignancies. The patients without malignancy are classified in group 1 while patients with malignancy are in group 2. Results: The mean age was 7.68 ± 4.65 years. Female gender was dominant in both groups. Café au lait spots were present in all patients. Axillary-inguinal freckling was observed in 76.4% of patients, followed by neurofibromas in 30.9%, Lisch nodules in 29.1%, bone dysplasia in 14.5%, optic gliomas (OG) in 23.6%, and a history of first degree relative with NF 1 in 63.6%. Central nervous system (CNS) tumors were present in 40%. Tumors beyond CNS were acute myeloid leukemia and schwannoma. None of the diagnostic criteria was a risk factor for malignancy. Having >3 criteria was the risk factor for malignancy in NF-1 (OR:5.891, CI 95%: 1.676-20.705, p=0.006).Conclusions: The major problem is malignancies in NF -1 patients. There are no clearly defined risk factors predicting malignancies in NF-1 at present. However, we found the risk of malignancy higher in patients with more diagnostic criteria.