신경섬유종증 환자의 전신자기공명영상 소견과 효용성
Whole body MRI findings of NF-1
Abstract
Purpose: NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs and presenting the clinician with often complex management decisions. Deeper fusiform subcutaneous and plexiform tumors may undergo malignant change and although this is uncommon in childhood, malignant transformation can occur beginning in adolescence and very rarely earlier. This study was performed to investigate the efficacy of whole body MRI in evaluating tumor burden and cancer surveillance. Methods: This study included 71 patients with NF-1 diagnosed from January 1998 to July 2017. NIH diagnostic criteria and genetic testing was used for diagnosis. Clinical features and whole body MRI findings were reviewed retrospectively. Results: 20 patients were below age of 10 years (5.2 ± 2.3 years) and 8 patients (40%) showed peripheral or plexiform neurofibroma. One patient with a severe plexiform neurofibroma affecting the whole body underwent debulking surgery at age of 4 years. One patient had pilocytic astrocytoma and malignant peripheral nerve sheath tumor of mediastinum at age of 9 years. 12 patients were over age of 10 and below 20 years (12.7 ± 2.8 years) and 7 patients (58%) had peripheral or plexiform neurofibroma. Pilocytic astrocytoma was suspicious in one patient with an increased size of mass like lesion. 39 patients were over age of 20 years (29 ± 12 years) and 29 patients (72%) had peripheral or plexiform neurofibroma. One patient was suspicious to have cranial nerve schwannoma at age of 28 years. One patient with an age of 32 years needed debulking surgery due to severe plexiform neurofibroma of the head and neck. Peripheral and plexiform neurofibroma were both most commonly discovered in lower extremities and paravertebral spaces. Central nervous system was the least common region where tumor was identified. Bone involvement appeared in 26 patients (37%). No specific relations were found between genotype and tumor burden or location. Conclusions: The incidence of tumors detected on whole body MRI increased with age. A single whole body MRI should be considered in children with early manifestations of a more severe disease course or at transition to adulthood to assist in determining approaches.