In 2022, an update to the diagnostic criteria for the genetic disorders formerly referred to as neurofibromatosis type two (NF2) and schwannomatosis was published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). CLICK HERE to read the press release. Among other important changes, the term “schwannomatosis” was proposed in this publication as an umbrella term for NF2 and schwannomatosis, further classifying each type of schwannomatosis by the gene containing the disease-causing pathogenic variant (formerly called https://www.ctf.org/news/revised-diagnostic-criteria-for-nf2-swn-announcementa gene mutation). A separate publication with an update to the diagnostic criteria for NF1 was published in 2021 and can be accessed below.

CLICK HERE to read the open-access version of this important article. 

FOR NF PROFESSIONALS

Please see the resources at the links to the right, which summarize the updated diagnostic criteria in various formats. Additionally, for healthcare providers who are not NF Experts, the Children’s Tumor Foundation offers the NF & SWN Diagnosis app, which contains updated diagnostic criteria information for all types of neurofibromatosis and schwannomatosis. The app will make use of handy tools to aid the healthcare provider in assessing patients, along with updated research news and resources that can be easily shared with families.

FOR NF PATIENTS AND CAREGIVERS

Patient brochures are updated in our Resource Center. The resources at the links to the right summarize the new diagnostic criteria and may aid in understanding these updates.

A summary document of the new way to talk about NF is available here. We encourage patients to download and share these resources with your healthcare team.

An update to the Diagnostic Criteria for neurofibromatosis type one (NF1) was published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG) in May of 2021. CLICK HERE to read the press release about this important update.

WHY UPDATE THE NF1 DIAGNOSTIC CRITERIA?

Historically, there has been some confusion between an NF1 and NF2 diagnosis, and the updated criteria intends to clarify that, and other areas of confusion, for practitioners and the general community. It is important to note that the past diagnostic criteria were established prior to:

• Discovery of the genes that cause NF1, NF2, and schwannomatosis
• Ability to perform genetic testing
• Recognition of schwannomatosis as distinct from NF2
• New clinical information about NF1, NF2, and schwannomatosis

FOR NF PROFESSIONALS

The full publication in Genetics in Medicine can be accessed HERE. For healthcare providers who are not NF Experts, the Children’s Tumor Foundation developed the NF Diagnosis app, which contains updated NF1 diagnostic criteria information along with other news and information.

FOR NF PATIENTS AND CAREGIVERS

The resources below summarize the updated NF1 diagnostic information for patients and families. We hope these will aid in the understanding of these updates, and we encourage you to download, print, and share these resources with your healthcare team. CTF’s updated patient brochure, Diagnosed with NF1, is now available in the CTF Resource Library.