IMAGE: Update of NF1 diagnostic criteria
Credit: Children’s Tumor Foundation
- Updated criteria for Legius syndrome and mosaic MF have also been published
- The diagnostic criteria for NF2 and Schwannomatosis will be published later this year
The Children’s Tumor Foundation (CTF) today announced the publication of updated diagnostic criteria for neurofibromatosis of genetic disorder type 1 (NF1) in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics. The new publication is the result of an extensive multi-year collaborative effort by more than 90 experts in neurofibromatosis (NF) worldwide and is aimed at improving the accuracy and early diagnosis of NF1 in patients, leading to an improvement in the care and quality of life of these patients. Today’s announcement is made on the occasion of NF Awareness Month, a global awareness initiative focused on the growing recognition of all forms of neurofibromatosis and schanomatosis.
The original diagnostic criteria for NF1 and NF2 were established at the consensus meeting of the National Institutes of Health (NIH) in 1987 and the diagnostic criteria for scanomatosis were established in 2005. Since then, there has been a explosion of knowledge about these genetic disorders. , including the discovery of genes that cause NF1, NF2 and schwannomatosis, as well as the technological development of genetic testing. In recent years, NF clinicians have noted that an updated consensus was needed to better communicate (for both medical professionals and patients) the distinctions between NF1, NF2, and schwannomatosis, as patients were sometimes misdiagnosed. or received a delayed diagnosis and care.
As a result, in 2017 a group of NF researchers contacted the Children’s Tumor Foundation, the largest non-governmental funder of all forms of NF research in the world, to sponsor a review and possible revision of the criteria for diagnosis of NF. This group of researchers became a global effort that used the following guiding principles in developing the updated criteria:
- Formulate a clear delimitation between the criteria NF1, NF2 and schwannomatosis
* Represent the best consensus among NF experts
* Reflect on the contributions of patients, caregivers, families, foundations and advocacy groups
* Address exclusively diagnostic issues (rather than clinical management)
* Be widely representative of medical specialties
* They can be used by general practitioners and NF specialists
* Recognize advances in genetics without the need for genetic analysis for diagnosis
* Be relevant in different countries and health care systems, now and in the coming years
Although the review of all forms of NF was carried out simultaneously by the expert groups, it is the updated criteria for NF1, Legius syndrome and NF mosaic that are available at this time, with the publication of the NF2 criteria. and schwannomatosis later this year.
The results of today’s update are now publicly available in the journal Genetics in Medicine, in an article entitled “Revised Diagnostic Criteria for Type 1 Neurofibromatosis and Legius Syndrome: An International Consensus Recommendation.” The article can be found at https://www.nature.com/articles/s41436-021-01170-5. All the names of the participants in the international consensus group on diagnostic criteria for neurofibromatosis can be found in the document.
In the article, the authors describe the following:
Purpose: by incorporating major developments in genetics, ophthalmology, dermatology and neuroimaging, reviewing the diagnostic criteria for neurofibromatosis type 1 (NF1) and establishing diagnostic criteria for Legius syndrome (LGSS).
Methods: Using a multi-step process, starting with a Delphi method involving global experts and subsequently involving non-patient experts with NF, patients, and patient advocacy foundations / groups.
Results: A consensus was reached on the minimum clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have a phenotypic overlap in young patients with pigmentary findings. Criteria are also provided for the mosaic shapes of these conditions.
Conclusion: The revised NF1 criteria incorporate new clinical features and genetic testing, while the LGSS criteria were created to differentiate the two conditions. Continuous refinement of these new criteria is likely to be needed as researchers (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and clinical features. ‘others and related disorders.
In the coming months, the Clinical Care Advisory Committee of the Childhood Tumor Foundation, in collaboration with NF clinics, medical groups and other NF organizations, will deploy a multiformat education program with up-to-date criteria for both physicians general as for NF experts, to increase knowledge and advance in the treatment of various forms of neurofibromatosis.
NF, short for neurofibromatosis, is a group of rare genetic disorders that cause tumors to grow in nerves throughout the body, includes three different forms (NF1, NF2, or schwannomatosis) and affects all ethnicities, races, and genders equally. In addition to tumors that grow anywhere on the body, NF can cause blindness, deafness, bone abnormalities, disfigurement, learning difficulties, disabling pain, and cancer. FN affects 1 in 3,000 births, and although the FDA approved the first treatment for NF1, Koselugo (selumetinib) in 2020 for inoperable plexiform neurofibromas, there is currently no cure for FN, which is why it is crucial to improve the diagnosis. and, ultimately, medical care, treatment, and research for more than 2.5 million people worldwide living with NF.
Promoting the goal of raising awareness and funding NF is the Children’s Tumor Foundation’s global awareness campaign, called Make NF Visible. This multi-format activation was launched in May, for NF Awareness Month, a time dedicated each year that draws attention to the inspiring and extraordinary stories of people living with NF and the critical need for research to improve his life. Learn more about making NF visible at makenfvisible.org.
On the occasion of NF Awareness Month (May) and the publication of updated diagnostic criteria, the Children’s Tumor Foundation has also created a patient-focused online site that will host updated patient brochures, webinar links, and other tools. important, including upcoming phone apps. , which will include information to share with patients, caregivers, families, educators, researchers and clinicians. New resources, links to publications, news (including the announcement of NF2 criteria and schwannomatosis) will be published throughout the year at ctf.org/nfcriteria.
For more information on the Childhood Tumor Foundation and the European Childhood Tumor Foundation, including research priorities, patient programs, community initiatives and more, visit ctf.org and ctfeurope.org.
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