Imaging practices in neurofibromatosis type 1 (NF1) across Romanian centers: a national cross-sectional survey

Neurofibromatosis type 1 (NF1) is a common monogenic disorder with diverse clinical manifestations. Imaging is essential for diagnosis and follow-up yet international data reveal wide variability in imaging practices. This study aimed to evaluate current NF1 imaging practices across Romania, identify gaps in standardisation, and assess needs for alignment with international guidelines.

A national, cross-sectional, questionnaire-based survey was conducted between March and May 2025 among Romanian imaging centres involved in NF1 diagnostics. Nineteen centres, both public and private, participated voluntarily. The survey addressed institutional characteristics, imaging modalities, paediatric protocols, reporting formats, multidisciplinary collaboration, and perceived challenges. Data were analysed descriptively as absolute frequencies and percentages.

Marked heterogeneity was observed in imaging practices and institutional capacities. Only 5.3% of centres reported routine use of whole-body magnetic resonance imaging, and 78.9% did not employ structured imaging reports. Paediatric imaging protocols were available in 26.3% of centres. One-third (31.6%) reported multidisciplinary collaboration, while 57.9% lacked NF1 patient registries. Despite these gaps, most centres expressed readiness to adopt standardised protocols, structured reporting, and improved inter-institutional coordination.

NF1 imaging in Romania remains fragmented, with limited use of structured reporting, and multidisciplinary integration. This first national survey provides a baseline for harmonising NF1 imaging practices and supports the development of standardised national protocols aligned with the European Reference Network for Genetic Tumour Risk Syndromes and REiNS guidelines.