Work

Neurofibromatosis Type 1: Clinical and Molecular Characterization in a Romanian Cohort of 80 Patients

Year: 2026

Type: article

Abstract: Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor-predisposition disorder with age-dependent manifestations and marked clinical variability. This study characterized clinical observations and documented molecular findings in a Romanian regional referral cohort. Methods: We retrospectively analyzed 80 patients referred between 2017 and 2025 because of a family history of NF1 or suggestive clinical signs. Available next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) results were reviewed, and variants were classified according to ACMG/AMP criteria. Results: Pathogenic or likely pathogenic NF1 variants were reported in 15/80 patients (18.75%): 13/66 children (19.7%) and 2/14 adults (14.3%). Five sequence variants and ten copy-number deletions were identified. Clinical observations included pigmentary, neurodevelopmental, skeletal, dysmorphic, and tumor-related findings. Testing availability and clinical documentation were heterogeneous. Conclusions: The detected molecular spectrum included both sequence and dosage variants. Uneven assay availability limits estimation of the incremental yield of combined testing. Complete diagnostic documentation and age-appropriate follow-up are important for interpreting molecular findings and supporting family counseling.

Source: Diagnostics

DOI: 10.3390/diagnostics16213618