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
NF Star Awards
Posting date: July 5, 2024
NF Star Awards
This year marked the Tumour Foundation of BC’s launch of the “NF Star Award for Healthcare Excellence”, a recognition of the dedication, compassion, and exceptional care provided by healthcare professionals who specialize in the treatment and management of NF. Given the lack of a specialized NF clinic and experts in British Columbia, these professionals are critical in navigating the complex medical landscape faced by patients. Their work ensures that those affected by NF receive the best possible care under challenging circumstances. At our June gala we awarded two exemplary individuals who have gone above and beyond in NF care. Their efforts not only enhance the lives of their patients but also serve as an inspiring example to their peers.
NF Star Award for Outstanding Healthcare Excellence
Dr. Janice Wong
When presented with an NF brochure from the 2022 symposium, Dr. Wong went above and beyond. She didn’t just read the document through with her patient, but dedicated time to conduct her own research to deepen her understanding of NF. In an era where primary care physicians operate under incredibly tight constraints, this effort demonstrated her commitment to delivering the highest standard of patient care. Her initiative to personally research and expand her knowledge resulted in significant improvements in managing patient care. Dr. Wong took the time to make the necessary referrals for imaging and to a cancer clinic, ensuring comprehensive care. Embracing a teamwork philosophy, Dr. Wong emphasized the importance of preventative care and proactive management of NF. Her willingness to adapt and collaborate has set a new standard for patient-centered care. It was our honour to present Dr. Janice Lynn Wong with the NF Star Award for Outstanding Healthcare Excellence.
NF Star Award for Outstanding Healthcare Excellence
Naomi Evans, RN
For years, Naomi Evans has been more than just a nurse clinician at B.C. Children’s Hospital. She has been a guiding light. Her meticulous attention to detail, promptness in responding to emails and calls, and patience in answering every question—no matter how big or small—have made a profound impact on their lives. But her commitment goes beyond the routine. From navigating complex medical forms to supporting families through clinical trials, her expertise is invaluable and her presence is always a comforting presence. For her unwavering support, for going above and beyond we were thrilled to award Naomi Evans for the NF Star Award for Outstanding Healthcare Excellence.
Virtual Town Hall Meeting
Posting date: May 9, 2024
Join the upcoming Virtual Town Hall Meeting, where we'll be discussing important updates and initiatives related to the NF clinic. This is your opportunity to engage with the Board and staff, ask questions, and be part of the conversation about making the NF clinic a priority for the decision-makers in our province.
Date: Monday, May 27th Time: 7:30pm
Location: Online https://bit.ly/3QCcpKG
Topics of Discussion:
- Updates on the NF Virtual Clinic
- Funding Efforts and Sustainability
- Future Plans and Collaborations
We value your input and want to ensure transparency and communication within our community. Whether you're a patient, caregiver, healthcare professional, or advocate, your presence and participation are vital.
Don't miss out on this informative and engaging event! To register for the Virtual Town Hall Meeting, please visit the link below.
We are delighted to announce the return of Silvana Rangel to the Tumour Foundation of BC as the Nurse Navigator
Posting date: April 26, 2024
“It is a privilege to once again be a part of your journey as we navigate the challenges of Neurofibromatosis together. I eagerly anticipate our collaboration in raising awareness about NF and navigating the complexities of our healthcare system.
Our ongoing efforts to secure funding for the reopening of virtual NF care clinic in BC are making strides. Through our relentless work to raise awareness, we are shining a light on the unique needs and obstacles faced by individuals with NF, fostering hope for the establishment of a dedicated clinic.
Your resilience and strength are truly inspiring, and your voice is important in advocating for your own health and well-being. Trust in your instincts as you monitor your NF symptoms and persist in advocating for yourself within the medical community. It is an honour to walk beside you on your NF journey.”
Should you have any questions regarding the management or treatment of NF, require assistance navigating healthcare services, or seek additional information and resources for yourself or your healthcare providers, please do not hesitate to reach out to Silvana. She can be reached by email at silvana@tumourfoundation.ca, by phone at 1-800-385-2263.
Breakthrough in Neurofibromatosis Type 1 Treatment: SpringWorks Therapeutics' Mirdametinib Shows Promise
Posting date: April 3, 2024
Neurofibromatosis Type 1 (NF1), a genetic disorder known for causing tumors on nerve tissue, has long been a challenging condition to manage, affecting approximately 1 in 3,000 individuals globally. However, recent developments from SpringWorks Therapeutics have shone a ray of hope for those affected by this condition. The company's investigational MEK inhibitor, mirdametinib, has demonstrated positive outcomes in a pivotal Phase 2b ReNeu trial, marking a significant milestone in the journey towards effective treatment options for NF1.
Mirdametinib: A Beacon of Hope
The recent trial by SpringWorks Therapeutics introduces mirdametinib as a potential game-changer in the treatment of NF1-associated plexiform neurofibromas. Unlike traditional approaches that address the symptoms, mirdametinib targets the underlying genetic defect, offering a more focused and potentially more effective treatment method. The success of the Phase 2b ReNeu trial not only underscores the importance of targeted therapies in managing genetic disorders but also opens the door for further research into similar treatments for NF1 and other related conditions.
News Update
Posting date: March 21, 2024
We are pleased to share that the pan-Canadian Pharmaceutical Alliance (pCPA) has provided Alexion, the manufacturer of Koselugo (selumetinib), with a letter of engagement to begin negotiations for the treatment of pediatric patients aged 2 years to 18 years of age, with NF1 who have symptomatic, inoperable plexiform neurofibromas (PNs).
The pCPA website has been updated and Koselugo is under “active negotiation”.
We are one step closer to having the first treatment for Canadian children and their families affected by NF1 and PNs.
Potential Treatment for Skin Tumours Linked to NF1
Posting date: February 17, 2024
Researchers at the Germans Trias i Pujol Research Institute (IGTP) have made significant progress in potential treatments for skin tumours linked to Neurofibromatosis type 1 (NF1). Published in JCI Insight, their findings shed light on a promising breakthrough.
NF1 often leads to the development of skin tumours called cutaneous neurofibromas. Nearly all adults with the condition are afflicted with these neurofibromas, ranging from tens to several thousand tumours involving the skin of all regions of the body. In addition to causing discomfort, cutaneous neurofibromas are disfiguring, negatively impacting mental health and quality of life of patients. Current treatment mainly involves surgery, which is only a partial solution as tumours can recur and cause scarring.
However, recent research has uncovered a potential game-changer. Scientists identified a key player, the GPR68 receptor, which when activated alongside Selumetinib, triggers a decrease in tumour cell survival. This combination not only halts cell proliferation but also promotes cell death. Moreover, the treatment's impact endures even after its completion, offering hope for a more lasting solution. The research suggests a shift from surgical interventions to targeted pharmaceutical approaches, potentially revolutionizing the treatment of NF1 skin tumours.
Stay tuned for further updates as this promising research progresses.
Exciting Announcement!
Posting date: February 5, 2024
We're thrilled to unveil our latest initiative: "Navigating Health Transitions: A Guide for Young Adults with NF." Specifically tailored for young adults with NF1, this comprehensive resource is designed to simplify the journey of transitioning from pediatric to adult healthcare.
Youth with NF typically receive specialized care from a pediatric team until they turn 18. However, as they approach this milestone, they must navigate the shift into the adult healthcare system. This crucial phase demands increased independence in managing one's medical care. Our handbook is a beacon of support during this transformative time, offering valuable insights and guidance to make the transition smoother.
What's inside:
- Understanding the Transition: A breakdown of the shift from pediatric to adult healthcare.
- Practical Tips: Insights and advice to empower young adults in taking charge of their medical well-being.
- Support Systems: Information on building a robust support network for a seamless healthcare journey.
Download your copy of this handbook and make it your companion on the path to greater independence and empowered health management. You can download your free copy of the resource by clicking on the button below.
New resource:
Posting date: February 5, 2024
Soundtrack of Silence: Love, Loss, and a Playlist for Life
"Soundtrack of Silence" is a poignant memoir by Matt Hay, a young man who discovers he's going deaf just as he falls in love for the first time. Growing up unaware of his hearing condition, Hay's life takes a turn when he can't meet college entrance requirements due to a tumor affecting his hearing. Coping with his impending loss, he creates a personal soundtrack, tying memories to his favorite songs. The memoir beautifully weaves in popular music references from the 1980s, inviting readers to reflect on their own life soundtracks. A unique and universal love story unfolds against the backdrop of love, loss, and the power of music. Purchase the book here:
BIG NEWS FOR THE NF1 COMMUNITY!
Posting date: November 16, 2023
NFlection Therapeutics just announced positive results from its Phase 2b clinical trial evaluating NFX‑179 Gel as a treatment for cutaneous neurofibromas (cNFs) in people with NF1. The topical gel significantly reduced the size of cNFs across multiple efficacy endpoints and was generally well tolerated.
Posting date: November 4, 2023
The 2023 NF Symposium
Our 2023 summit has officially wrapped up, and what a fantastic event it was!
Nearly 50 participants from all over Canada gathered to share their stories, soak up new knowledge, and depart with renewed hope, especially after hearing the exciting updates on new research treatments for NF. Heartfelt gratitude to our incredible speakers who journeyed from both the US and Canada to enrich us with their insights at this year’s event. The wealth of wisdom, the connections forged, and the unwavering dedication of our speakers and guests have been nothing short of extraordinary.
Major thanks to Alexion and the Province of BC for making this event possible through their generous funding. Their support underscores the power of partnerships, and we're deeply appreciative of their commitment to advancing NF knowledge, understanding, and treatment.
Coming together, we empower ourselves with knowledge and take significant strides toward a brighter, more informed future, for individuals and families affected by NF. We hope you will join us at the 2024 symposium. Stay tuned for details.
The inaugural National NF Leadership Summit was a Triumph!
With thirteen passionate participants from all corners of the country joining together, Canada’s first NF Leadership Summit was a success! This gathering was an amazing platform for networking, sharing knowledge, and sparking engaging discussions on collaboration opportunities. We dove into workshops covering advocacy, media messaging, drug development, and more!
This is just the beginning. Our mission is to build a stronger presence and a more powerful voice for the provincial NF communities and the NF cause in Canada. We extend our gratitude to Alexion who generously supported this event.
Together, we will make a difference!
Posting date: November 4, 2023
NF Leadership Summit - October 27th
The Tumour Foundation of BC is thrilled to announce our inaugural NF Leadership Summit on October 27th! Thanks to the generous support of Alexion, we've gathered volunteers from NF organizations across Canada for a day of connection, planning, and strategizing. This marks a significant moment as it's been over a decade since all the NF leaders were in one room!
Here's what's on the agenda: Amplifying Advocacy Efforts, Collaboration and Experience Sharing, Developing Consistent NF Messaging and Expediting Drug Development
We're eager to see the positive impact this summit will bring to the NF community. Stay tuned for updates as we work together to make a difference!
Posting date: September 12, 2023
Posting date: November 4, 2023
This year the Paul Ralfs Volunteer award was awarded to Bernice Chan.
The award celebrates the spirit of volunteerism and its embodiment in the legacy of the Tumour Foundation of BC's founder, Paul Ralfs.
Paul was a dedicated volunteer who, for over three decades, dedicated himself to raising NF awareness, offering support and resources to those diagnosed with NF, and selflessly working towards his vision of ensuring that no one with NF walks their journey alone.
This year, we were honoured to present the award to Bernice who is a remarkable individual who consistently demonstrates a profound commitment to the NF cause by dedicating countless hours to raising awareness, fundraising.
Over the past several years Bernice has illuminated hope within the NF community through her dedicated work on the "Shine a Light on NF" Campaign. Her efforts have involved reaching out to landmarks, buildings, bridges and gardens, inspiring them to light up for the cause. Thanks to her dedication, countless lives have been forever brightened.
Posting date: September 12, 2023
Official Notice of Annual General Meeting - October 28th
Join us for this year’s AGM. It's an opportunity to revisit the past year of successes and challenges and meet the Board of Directors.
Date: Saturday, October 28th, 2023
Venue: Hilton Hotel Metrotown
Address: 6083 McKay Avenue, Burnaby
Time: AGM starts at 1:00 PM
This year, our AGM coincides with the symposium at the Hilton Vancouver Metrotown. While everyone is welcome at the AGM only members in good standing have voting privileges.
Get ready to join us this fall for an enriching educational experience! We can't wait to see you. If you would like to attend the AGM but not the symposium please register by emailing the Foundation at info@tumourfoundation.ca
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.