Resources for Physicians
Neurofibromatosis Clinic
The Elisabeth Raab Neurofibromatosis clinic, the first in-Canada multidisciplinary clinic for adults with neurofibromatosis focuses solely on this genetic disorder. An estimated 10,000 Canadians are living with neurofibromatosis, a disorder that makes patients prone to develop innumerable tumors. This disease can be difficult to diagnose, since all body systems can be involved, either directly or through neural or vascular influences.
The clinic advances treatment and understanding of neurofibromatosis in three key clinical areas:
Clinical Care
On an outpatient basis, we assess, monitor and care for individuals from across Canada and North America living with neurofibromatosis, and speed up accurate diagnosis and management of symptomatic benign or malignant tumors associated with this condition.
Clinical Research
Clinical research focused on the patients visiting the specialized clinic help provide a better understanding of the epidemiology of neurofibromatosis syndrome and facilitate the development of new treatments for the disease
Basic Science
Scientific research in the laboratories of Zadeh Lab at Princess Margaret Cancer Research Institute and the Centre for Research in Neurodegenerative Diseases (CRND) at Toronto General
Research Institute seek to better understand the genetic drivers of peripheral nerve tumors associated with neurofibromatosis; how neural dysfunction occurs; and identify possible ways to halt or reverse nerve damage.
Pediatric Neurofibromatosis Clinics
The Pediatric Neurofibromatosis Clinic at SickKids Hospital. A dedicated pediatric neurofibromatosis clinic that offers comprehensive diagnostic evaluations, follow up care and genetic counselling for children, teens and young adults. The clinic provides compassionate care and access to broad range of subspecialties within SickKids Hospital. The program offers emotional support for your child and your family through access to psychosocial specialists and educational materials. In addition, the clinic offers unique clinical trials and treatment approaches through national research initiatives.
CUTnf Laser Ablation Clinic
Cutaneous Neurofibroma Laser Ablation Clinic
Impact:
Cutaneous neurofibromas, although benign lesions, lead to significant quality-of-life issues due to cosmetic disfigurement, intractable pain, and psychosocial impairment. Surgical options
are limited due to the multiplicity of tumors, high rates of recurrence, and risk of hypertrophic scarring. To date, there are no medical options available to treat these tumors. There is a
clear impetus to develop novel treatment modalities to improve the quality-of-life of patients with neurofibromatosis type 1.
- We have a three-pronged strategy to develop innovative therapies for management of cutaneous neurofibromas through (1) clinical advances, (2) quality-of-life advances and (3)
research advances.
Background
Cutaneous neurofibromas are histopathologically benign tumors that are the hallmark of neurofibromatosis type 1 (NF1). Although these tumors are not lethal, they are associated with significant impairment of quality-of-life due to cosmetic disfigurement. Previous studies have shown that visibility of cutaneous neurofibromas negatively impacted emotions and functioning. These findings underscore the need for effective therapy and prevention. As a result, cutaneous neurofibromas are the greatest medical burden in NF1 individuals. To date, primary treatment remains surgical removal with primary closure. However, this treatment is limited by the multiplicity of the tumors, high rates of recurrence, and risk of hypertrophic scarring. In addition, the government of Ontario considers treatment of cutaneous neurofibromas as a “cosmetic procedure” and therefore is not often covered. We aim to address the treatment through 3 interconnected goals to provide patients with novel and innovative treatments for cutaneous neurofibromas.
Goal 1: Cutaneous Neurofibroma Laser Ablation Clinic
There are limited options for treatment of cutaneous neurofibromas due to limited operating room and surgeon availabilities. In addition, given the multiplicity of the tumors, surgical resection is often not feasible due to the time constraints of treating several tumors. We have developed a novel technique for treatment of cutaneous neurofibromas using an Yrbium-based laser for ablation of tumor. With this technology, we can treat several tumors within a short time period. The development of a periodical clinic dedicated to cutaneous neurofibromas will ensure that NF1 patients are seen in a timely manner to have their lesions treated in an outpatient setting.
Goal 2: Quality-of-Life Assessment
In addition, we have developed a set of questionnaires to probe the effect of cutaneous neurofibromas on pain, mood, anxiety and overall quality-of-life. Serial assessments allow us to
understand the impact of cutaneous neurofibromas on day-to-day life and on self-image. A combination of qualitative and quantitative assessments on the impact of cutaneous
neurofibromas on patient well-being help identify what additional supports and services would help the neurofibromatosis community.
Goal 3: Molecular Analysis of Cutaneous Neurofibromas
We are performing multiplatform molecular analysis on cutaneous neurofibromas to uncover the molecular drivers of tumorigenesis and identify potential therapeutic targets that can
one day lead to medical management of these tumors.
