The diagnostic criteria for NF1 and NF2 were established at the NIH consensus meeting in 1987, and the diagnostic criteria for schwannomatosis in 2005. Since that time, there has been a tremendous increase in knowledge about the genetic basis and phenotype of these genetic disorders. In 2017, a group of NF investigators reached out to the Children’s Tumor Foundation to explore the possibility of sponsoring a revision of the diagnostic criteria. This process has involved more than 70 leading NF experts from around the globe, and has used a Delphi process to achieve consensus on revised criteria.
Please view below a recent webinar in which Scott Plotkin, MD, PhD, on behalf of the group, discussed the proposed changes and sought patient input. If you have questions or would like to share your thoughts after viewing, please email diagnosticcriteria@ctf.org.
NF1
NF2 & Schwannomatosis
To view additional reports about the proposed changes, please visit www.ctf.org/diagnosticcriteria.
