Application of 3D slicer three-dimensional reconstruction volume Analysis in Volume Measurement of Type I neurofibromatosis with plexiform neurofibromatosis

Background Patients with neurofibromatosis type 1 (NF1) accompanied by plexiform neurofibromas have long been regarded as incurable. With disease progression, some patients develop severe limb dysfunction, impaired quality of life, and even malignant transformation into malignant peripheral nerve sheath tumors. In 2023, MEK inhibitor‑targeted therapies were introduced in China, and an increasing number of patients have received systemic targeted treatment. Nevertheless, how to accurately evaluate tumor size changes following treatment has become a major focus for clinicians and patients’families. Objective 3D Slicer software was initially adopted and systematically utilized for volumetric assessment of plexiform neurofibromas. Methods A retrospective multicenter analysis was performed on clinical and imaging data from NF1 patients with PNF who received targeted therapy. 3D Slicer software was used for three-dimensional reconstruction and volumetric measurement of PNF lesions. The reproducibility of this method was verified, and a correlation analysis was conducted between tumor volume change rates and the improvement of clinical symptoms. Results PNF is characterized by highly irregular morphology and diffuse growth along nerve fascicles, which renders traditional 1D-RECIST and 2D-WHO assessment criteria inadequate for quantitative evaluation due to inherent limitations. In this study, we developed and validated a 3D Slicer-based volumetric measurement protocol for PNF, with standardized operational procedures established. Although the measurement process is relatively time-consuming, the results exhibit excellent reproducibility with a low coefficient of variation for the measured data. Conclusion Owing to the rarity of NF1 with PNF, the small patient population, and the recent clinical recognition of this disease over the past three years, the present study has a relatively small sample size, which may have introduced bias in the correlation analysis between tumor volume change rate and clinical symptom improvement. Nevertheless, we successfully established and validated a set of 3D volumetric measurement tools and standardized workflows for PNF that can support clinical decision-making. Most importantly, this study lays a solid foundation for quantitative assessment in subsequent large-sample and long-term follow-up studies of PNF.