Novel MRI-AI Pilot Opens for Pediatric NF1 Malignancy Detection — Early Intervention Opportunity

References

1. 1.Baca, N. (2024). Identification of Pre-Malignant Lesions In Pediatric Patients With Neurofibromatosis Type 1 Using Novel Magnetic Resonance Imaging Techniques Paired With Artificial Intelligence. ClinicalTrials.gov. NCT04763109. https://clinicaltrials.gov/study/NCT04763109
2. 2.Cai, Z., Manalo, J., Taljanidisz, J., Klein, O., Flores, R., & Koff, A. (2020). Machine learning approaches for the prediction of malignant transformation in neurofibromatosis type 1 patients. Cancers, 12(11), 3194. https://doi.org/10.3390/cancers12113194
3. 3.Dombi, E., Baldwin, A., Marcus, L. J., Fisher, M. J., Weiss, B., Kim, A., Whitcomb, P., Martin, S., Aschbacher-Smith, L. E., Dombi, E., Schorry, E., Crawford, H. A., Gillespie, A., Casey, T., Reilly, K. M., & Widemann, B. C. (2016). Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. New England Journal of Medicine, 375(26), 2550-2560. https://doi.org/10.1056/NEJMoa1605943
4. 4.Evans, D. G., Baser, M. E., McGaughran, J., Sharif, S., Howard, E., & Moran, A. (2002). Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Journal of Medical Genetics, 39(5), 311-314. https://doi.org/10.1136/jmg.39.5.311
5. 5.Huson, S. M., Compston, D. A., Clark, P., & Harper, P. S. (1989). A genetic study of neurofibromatosis type 1 in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. Journal of Medical Genetics, 26(11), 704-711. https://doi.org/10.1136/jmg.26.11.704
6. 6.Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., Packer, R. J., Rauen, K. A., Riccardi, V., ... Plotkin, S. R. (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 23(8), 1506-1513. https://doi.org/10.1038/s41436-021-01170-5
7. 7.Miettinen, M. M., Antonescu, C. R., Fletcher, C. D., Kim, A., Lazar, A. J., Quezado, M. M., Reilly, K. M., Stemmer-Rachamimov, A., Stewart, D. R., Viskochil, D., Widemann, B., & Meltzer, P. (2017). Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview. Human Pathology, 67, 1-10. https://doi.org/10.1016/j.humpath.2016.10.005
8. 8.Salamon, J., Veldhoen, S., Apostolova, I., Bannas, P., Yamamura, J., Adam, G., Herrmann, J., Mautner, V. F., & Well, L. (2015). 18F-FDG PET/CT for detection of malignant peripheral nerve sheath tumours in neurofibromatosis type 1: tumour-to-liver ratio is superior to an SUVmax cut-off. European Radiology, 25(5), 1384-1391. https://doi.org/10.1007/s00330-014-3581-1
9. 9.Uusitalo, E., Leppävirta, J., Koffert, A., Suominen, S., Vahtera, J., Vahlberg, T., Pöyhönen, M., Peltonen, J., & Peltonen, S. (2015). Incidence and mortality of neurofibromatosis: a total population study in Finland. Journal of Investigative Dermatology, 135(3), 904-906. https://doi.org/10.1038/jid.2014.465