News and Research Updates
March 26, 2023
Revised Diagnostic Criteria for Neurofibromatosis Type 2 (NF2) and Schwannomatosis
There is updated criteria for NF2 and Schwannomatosis (SWN) that incorporates clinical features and genetic testing, with a focus on using molecular data to differentiate the two conditions.
The updated diagnostic criteria for schwannomatosis classify each disorder according to the specific gene harboring a pathogenic variant. Therefore, NF2 is now termed NF2-related schwannomatosis.
It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term “neurofibromatosis 2” has been retired to improve diagnostic specificity.
The term "schwannomatosis” is now considered an umbrella term for NF2 and schwannomatosis, further classifying each type of schwannomatosis by the gene containing the disease-causing pathogenic variant (formerly called a gene mutation).
The former diagnostic criteria for NF2 and schwannomatosis classified patients primarily based on clinical features; however, it is now apparent that the manifestations of these diseases span the same continuum. For this reason, "schwannomatosis" no longer defines a distinct syndrome, but is now used as an umbrella term to describe the overlapping conditions in which a patient has many schwannomas.
The updated diagnostic criteria for schwannomatosis classify each disorder according to the specific gene harboring a pathogenic variant. Therefore, NF2 is now termed NF2-related schwannomatosis.
What was previously referred to as “schwannomatosis” is now termed either SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, schwannomatosis-NOS (not otherwise specified), or schwannomatosis NEC (not elsewhere classified).
There has been some confusion and overlap in the diagnosis of all types of neurofibromatosis and schwannomatosis, and the updated criteria intend to improve patient care by reducing misdiagnosis:
- 9% of patients with a clinical diagnosis of schwannomatosis actually had NF2 upon genetic analysis
- 1-2% of patients with a clinical diagnosis of NF2 actually had schwannomatosis upon genetic analysis
- Significant overlap in features of schwannomatosis with mosaic NF2 patients
- No mention of the LZTR1 gene or other genetic features in previous criteria
- A new awareness of the hybrid nerve sheath tumor (a close relative of schwannoma and neurofibroma) for use in the diagnosis of schwannomatosis
The original diagnostic criteria for NF1 and NF2 were established at the National Institutes of Health (NIH) consensus meeting in 1987, and the diagnostic criteria for schwannomatosis was established in 2005. Since that time, there has been an explosion of knowledge about these genetic disorders, including the discovery of the genes that cause NF1, NF2, and schwannomatosis, as well as the technological development of genetic.
Additional Resources:
- SUMMARY DOCUMENT: Schwannomatosis (NF2) Criteria Update
- INFOGRAPHIC: NF2-related schwannomatosis
- INFOGRAPHIC: LZTR1-related and SMARCB1-related schwannomatosis
- INFOGRAPHIC: 22q-related schwannomatosis
- INFOGRAPHIC: Schwannomatosis NOS and NEC
March 22, 2023
Government of Canada Improves Access to Drugs for Rare Diseases
On March 22, 2023, the Honourable Jean-Yves Duclos, Minister of Health, announced measures in support of the first-ever National Strategy for Drugs for Rare Diseases , with an investment of up to $1.5 billion over three years. Through this, they will help increase access to, and affordability of, effective drugs for rare diseases to improve the health of patients across Canada , including children.
As part of this overall investment, the Government of Canada will make available up to $1.4 billion to provinces and territories through bilateral agreements. This funding will help provinces and territories improve access to new and emerging drugs, as well as support enhanced access to existing drugs, early diagnosis, and screening for rare diseases. This will help patients with rare diseases, including children, have access to treatments as early as possible, for better quality of life.
As a critical next step to advance the development of these bilateral agreements, the Government of Canada will engage with provinces and territories to jointly determine a small set of new and emerging drugs that would be cost-shared and covered in a consistent way across the country, for the benefit of patients. Similarly, to further support eligible First Nations and Inuit patients living with rare diseases, $33 million from this funding will go to Indigenous Services Canada's Non-Insured Health Benefits Program. In addition, $68 million will be invested for various initiatives to help improve consistent access to drugs for rare diseases across the country, including:
- $20 million over three years to the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Canadian Institute for Health Information (CIHI) to improve the collection and use of evidence to support decision-making;
- $32 million over five years to the Canadian Institutes of Health Research (CIHR) to advance rare disease research with a focus on developing better diagnostic tools and establishing a robust Canadian rare disease clinical trials network; and,
- $16 million over three years to support the establishment of national governance structures, such as a Health Canada secretariat and a stakeholder Implementation Advisory Group, to support the implementation of the Strategy.
The Government of Canada will continue to work with provinces, territories, and key partners to deliver on these improvements so those living with rare diseases can have better health outcomes and access to cutting-edge treatment options.
November 30, 2022
Dear Friends,
It is with a heavy heart that we announce that the virtual NF medical clinic project is now over. We hope the end of the pilot project will only be temporary.
While the Board has been in pursuit of funding partners to give the clinic a permanent home, our recent fundraising campaigns have fallen significantly short of the $25,000 goal we needed to make the NF clinic pilot project a regular program of the Foundation. Similar to other charities across the country, the COVID-19 pandemic has had lasting impacts on our fundraising revenue.
Due to the high demand for consultations with the NF specialists, the pilot project continued for six months longer than was originally planned. The seed funding for the clinic project came from individual donations, auctions, and many miles covered by participants in the Vancouver Half-Marathon.
We are grateful for every dollar that allowed us to change the outcome for 31 patients with NF1 and NF2 during the duration of the clinic project. We also collected vital data necessary to build a case that will show decision-makers and funders that a permanent clinic for the adult NF community in BC is urgently needed.
With another thirty patients remaining on the waitlist, the Board will leave no stone unturned to offer this expert care to the community in the future.
We thank everyone who trusted us with their healthcare and participated in the virtual clinic pilot project over the last year. In the meantime, if you have any concerns about your NF diagnosis or treatment plan, please get in touch with your primary care physician.
If you would like to help make the NF clinic a regular service of the Tumour Foundation donations will always be welcomed here. If you have connections to a possible funder for the clinic, please reach out to us via email.
If you are disappointed about the end of the clinic project we encourage you to reach out your MLA and share your frustrations about the lack of specialized care for adult patients with NF in BC. You can find your MLA listed here.
Thank you for your continued support.
Sincerely,
The Board and Staff
Tumour Foundation of BC
November 16, 2022
CADTH Review Process - Selumetinib (Koselugo)
Thank you to everyone who participated in our health care survey and focus group to support the Foundation’s submission to the Canadian Agency for Drugs and Technologies in Health (CADTH) in support of publicly funding selumetinib (Koselugo). This is the first drug for treating inoperable plexiform neurofibromas associated with NF1.
It was clearly evident, from the input we received both from patients and caregivers, that the impact of NF goes well beyond tumour manifestation. NF affects not only the nerves of the body but also the mental and emotional well being of patients and families. The NF diagnosis is also impacting the financial health of families across our province. With the submission to CADTH now complete we wait to hear on the next steps. To avoid missing an update please join our email list here or join the Facebook group. You can download the Tumour Foundation’s submission to CADTH here.
March 18, 2020
In NIH trial, selumetinib shrinks tumours, provides clinical benefit for children with NF1. Read the full article here.