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The Canadian retinoblastoma clinical practice guidelines are being updated

Author: Fiona Hendry

What are the clinical practice guidelines?

Clinical practice guidelines are recommendations based on the best available evidence about a particular therapeutic area. They are intended to enhance patient care.

Clinical practice guidelines for retinoblastoma

Published in 2009, the Canadian National Retinoblastoma Strategy was the first ever set of retinoblastoma clinical practice guidelines. These guidelines were adapted for the Kenyan National Retinoblastoma Strategy, published in 2014.

Thanks to ongoing research, there have been great strides in improving the outcomes of children with retinoblastoma. That’s why a newer, updated set of clinical practice guidelines are being produced.

This project co-chaired by Dr. Katherine Paton and Dr. Brenda Gallie. Dr. Paton is an Ocular Oncologist at BC Children’s Hospital and Head of the Division of Ocular Oncology and Clinical Professor in the Department of Ophthalmology and Visual Sciences at the University of British Columbia. Dr. Gallie is Head of Retinoblastoma Programs at The Hospital for Sick Children and Alberta Children’s Hospital and Professor in the Departments of Ophthalmology and Vision Science, Medical Biophysics and Molecular Genetics at the University of Toronto.

Retinoblastoma clinical practice guidelines sections

There are 10 guidelines sections, as follows:

1. Screening
2. Features and Classification of Retinoblastoma Treatment Centres
3. Referral and Diagnosis
4. Genetic Analysis
5. Pathology
6. Imaging
7. Treatment
8. Follow-up
9. Psychosocial Care and Access to Services
10. Public Awareness and Education

How are the Canadian retinoblastoma clinical practice guidelines being developed?

The retinoblastoma clinical practice guidelines will be developed following a rigorous process, including a structured review of the quality of every relevant research study and how it might apply in clinical practice. Like the original clinical practice guidelines, the process will also include a review by additional experts, including retinoblastoma survivors and family members, and international experts.

Retinoblastoma experts (generally from Canada) were selected to lead the aforementioned sections. Section leads started meeting remotely in late 2017 with an in person meeting June 1, 2018.

Stay tuned for more information about the clinical practice guidelines, including opportunities for retinoblastoma survivors and families to participate!

The updated Canadian retinoblastoma clinical practice guidelines were discussed by a group of retinoblastoma experts during the annual Canadian Ophthalmological Society meeting June 1, 2018. Top Row (left to right): Dr. Lisa Lagrou, Dr. Katie Clapson, Dr. Kelsey Roelofs, Dr. Stephanie Kletke, Dr. Andrew Budning, Dr. Carlos Solarte, Dr. Patrick Hamel, Dr. Ian Clark, Dr. Louis-Etienne Marcoux , Dr. Jane Gardiner, Dr. Annick Fournier, Dr. Rob Downie. Bottom Row: Ms. Beverley Griffiths, Dr. Katherine Paton, Dr. Brenda Gallie, Ms. Kaitlyn Hougham, Dr. Hilary Racher, Dr. Junyang Zhao

Retinoblastoma Treatment: Past, Present and Future

Author: Dr. Ella Bowles

As a 35-year-old patient who was treated for retinoblastoma that many years ago, I am curious how retinoblastoma treatment has changed over the years? I had bilateral retinoblastoma, and one of my eyes was removed; in the other, I had xenon arc (an older type of laser) therapy and cryotherapy. At that time, external beam radiation and radioactive patches were also common retinoblastoma treatments. I know that these therapies have been fine-tuned since then, but I don’t know much more than that. To answer my questions, I sat down with Dr. Brenda Gallie to talk about how care has changed over the years, and what future directions may look like.

Me: How has the field of retinoblastoma changed over the last 30 or so years?

Dr. Gallie: The field of retinoblastoma has changed a lot. Now it is totally feasible for all 8000 children who have retinoblastoma in the world to live, and DePICT is one of the tools at the center of this possibility. Retinoblastoma could be a zero-death cancer in the next ten years. DePICT is a digital tool where all patient information, including all treatments, can be archived, and patients have the ability to access it. DePICT also provides tremendous opportunity for research, as it will preserve a lot of information that is lost in the current patient record system.

Major developments in retinoblastoma treatment include intra-arterial chemotherapy (chemotherapy delivered to the eye via ophthalmic artery) and intra-vitreal chemotherapy (injection of chemotherapy into the eye) in 2010 and 2011, as well as removal of the tumor and vitreous from inside the eye (2017). These new therapies are changing how eyes are treated, and the DePICT^RB  database will allow clinicians and researchers to assess if the treatments are better or worse, how they are better, and for which patients they are appropriate.

In addition, a new staging system for retinoblastoma (TNMH stage vs the Murphree A-E classification) was developed from outcome data on 1,728 eyes in 13 countries, to help all doctors ‘speak the same language’ about retinoblastoma and compare patients across centres.

A child now diagnosed with:

1. T3 eye: eye must come out

2. T1a eye: treat with laser, cryotherapy

3. T1b eye: treat with chemotherapy then laser, cryotherapy

4. T2a eye (retinal detachment with no seeding): treat with chemotherapy then laser, cryotherapy

5. T2b eye (any subretinal or vitreous seeding): treat first with chemotherapy, then injection of chemotherapy directly into the vitreous, and the new idea to surgically remove the tumor in some eyes when other treatments fail. We think that vitreous seeds may be easier to treat than subretinal seeds, and we will know once we have complete data in the DePICT^RB

Intra-arterial chemotherapy in particular has swept the world without evidence of outcomes. It definitely has an important role, and we look forward to full data on the outcomes of all children who receive intra-arterial chemotherapy, so we can know which children it serves well and which children do better with systemic chemotherapy.

Me: How much involvement do patients usually have in treatment decisions for their kids?

Dr. Gallie: Each treatment is a discussion, and every treatment is agreed to by the parents of patients. What clinicians need to do better is showing the parents the outcomes of each choice, for example how far to go to save a blind and dangerous eye.

Me: Where is the best place for patients and families to go to get information about treatment?

Dr. Gallie: World Eye Cancer Hope, which can be found here: https://wechope.org.

As a patient, I feel invested in the implementation of DePICT, Dr. Gallie’s passion project, perhaps for the same reasons as she is. I was treated 35 years ago, and since then I have moved many times, with my family, to go away to school, and now for work. Over all those moves, so much information about my treatment has been lost – well, it could be found, but it is locked in clinic basements in files, and nobody wants to go look for it. All I have is a series of letters. DePICT will allow for continuity of care, and for data about treatment and follow up to be retained so easily. As a patient, I also value the possibility that it will allow easy discussion among physicians about treatment in cases where collaboration on care would be beneficial. And lastly, as a patient, I think it would be beneficial for researchers to have comprehensive data for retrospective studies. For example, Dr. Gallie spoke of how intra-arterial chemotherapy has swept the world as a treatment without evidence that it is better. DePICT can provide the data to test that. Other examples of retrospective studies are: a lot is not yet understood about why second cancers arise, whether there may be particular RB1 mutations that predispose to second cancers, or what types of consequences arise from specific treatments. DePICT holds promise to facilitate all of this.

Save The Date: 3rd Annual Canadian Retinoblastoma Research Advisory…

The third annual Canadian Retinoblastoma Research Advisory Board meeting will be held in Toronto January 26 & 27, 2019.

The purpose of this free meeting is to bring together people affected by retinoblastoma (i.e., patients and families), health professionals, researchers and policy makers to discuss retinoblastoma research.

More information about the meeting will be made available later 2018.

Opinion Piece: Knowledge, Experiences and Attitudes Concerning Genetics Among…

Authors:

Richelle Baddeliyanage, Student, and retinoblastoma survivor

Lynn Nahachewsky, Social worker and retinoblastoma survivor

Sepideh Selfi, Patient & customer engagement administrator

Helen Dimaras, Scientist

Introduction:

In trying to understand the complexities behind retinoblastoma as a rare genetic disease, there are many misunderstandings and gaps in knowledge among the patient community. In the study, “Knowledge, Experiences and Attitudes concerning Genetics among Retinoblastoma Survivors and Parents”, participants expressed a need for accessible and adequate information and support. Click below to watch a video summary of the paper. We offer our opinions on the paper, representing both the patient and healthcare community perspective.

Lynn: I really enjoyed how the paper was able to discuss each of the possible misunderstandings or misconceptions of the study group. I enjoyed that patients were quoted verbatim, even if there was slang used, as this accurately depicts how real people talk about and understand their cancer. Retinoblasotma is such a complex subject with so many variables and the interviews and research for this paper were very rich in all areas.

Richelle: As a survivor of bilateral retinoblastoma, my own patient experience aligns with most of the issues expressed in the article. While I had a basic understanding of retinoblastoma, I lacked access to new information and research on the long-term medical consequences of the disease. Important concepts are often miscommunicated and misconstrued, and there are several challenges involved in accessing the appropriate materials on retinoblastoma genetics. In addition, participants of the study found that there was a lack of psychosocial support. I also feel that there is a great need for retinoblastoma patients and family members to belong to a community of shared experiences that promotes open discussion and collective support.

Helen: I think for me the issue I took away is the inconsistencies in how people understood the basic biology and inheritance patterns of retinoblastoma. Some had excellent understanding, while many others remained confused, despite having received genetic counseling. One of the most common misconceptions was that unilateral retinoblastoma is not associated with a heritable RB1 mutation – and therefore allegedly does not confer risk of future cancer or future affected pregnancies. This is not true; about 15% of patients with unilateral retinoblastoma have a predisposing error in the RB1 gene, and are therefore at risk of second cancers and passing on the mutation to children (click here for more information on the genetics of retinoblastoma). There was confusion also between the words ‘inherited’ and ‘heritable’ – they are not the same thing, yet were often considered as such. It is important for people to understand that just because the error in the gene may not have been inherited from a parent, it does not necessarily mean that the error that developed in the child isn’t heritable by the next generation.

Sepideh: What I took away from the research is our need in the system for continuous patient support for patients. Specifically, if patients are walking away with questions and concerns after genetic counselling, how can similar service be implemented as a psychosocial/genetic information program through different channels? A problem has been unsurfaced through this research, requiring us to come up with new ways of meeting patient needs.

A way forward:

There is an opportunity to address these gaps in the system, through the Canadian Retinoblastoma Research Advisory Board and the Registry. Through these forums we can work with the patient community to co-create materials to support patient understanding of the complex genetic concepts in retinoblastoma. We will work together to produce tangible resources in various forms from informative pamphlets, books and posters, to workshops and videos and focus groups. Patient-oriented approaches to understanding retinoblastoma genetics will undoubtedly improve communication, and understanding of information and new research.  Patient engagement will also foster a network of peers that have shared interests and goals and can simultaneously act as an informal support network for the retinoblastoma community. It is our hope that patient engagement in retinoblastoma research will fill the gaps currently present in the healthcare system and ultimately improve health outcomes for future patients.

Job Opportunity for Individuals with Lived Experience of Retinoblastoma

Researchers at The Hospital for Sick Children will soon be recruiting an individual with lived  experience of retinoblastoma (e.g., survivor, parent etc.) to help lead a research project. More information about this paid researcher position will be distributed on social media. If interested, email retinoblastoma.research@sickkids.ca.

The Retinoblastoma Research Priority Setting Workshop Was A Success!

From October to December 2017, we conducted a project to identify the top 10 retinoblastoma research priorities.

Thank you to everyone who participated! Results will be made available spring/ summer 2018.

Save the Date: Retinoblastoma Research Symposium

December 9 & 10, 2017
Toronto, Ontario
Click here to learn more.

Establishing the “Top 10” Retinoblastoma Research Priorities

Please consider participating in a brief online survey and sharing information about this project with others affected by retinoblastoma and your health professionals. SURVEY CLOSED NOVEMBER 12.

A patient’s perspective on priorities in retinoblastoma research

To introduce myself, I am a former retinoblastoma (RB) patient and RB survivor. I was diagnosed in the early 1980s and treated at SickKids; my left eye was enucleated and I received chemotherapy and radiation over the course of about a year. Living in Ontario, I returned to the eye clinic and the oncology clinic at SickKids each year until I turned 18. Gradually over those years, thanks to the attentive care I received, the impact of the initial diagnosis and treatment faded. And over the next 15 years I did not often think about RB, save for a background level of vigilance with respect to my health: awareness of the possibility of secondary tumors, and potential for slow manifestation of side effects of my childhood surgery, radiation, and chemo.

Just over a year ago, that vigilance led me to follow up on what I thought may be a sports injury but turned out to be a secondary tumor. I was then treated for a soft tissue sarcoma that I learned to be one of the more common types of secondary tumor to develop in those with an RB mutation. I now found myself facing a cancer diagnosis as an adult, devoting a great deal of thought to making significant health care decisions for the first time.

It has been a happy coincidence to learn of the Canadian Retinoblastoma Research Advisory Board (CRRAB) and the study on setting RB research priorities led by Dr. Dimaras and her team. My recent diagnosis and treatment experience have led me to think about RB from a new perspective and, ultimately, to articulate what I consider to be RB research priorities.

The first issue that came up for me was a feeling of being among the fewest of the few. Struck twice by lightning, or doubly star-crossed, depending on how you look at it! RB is a relatively rare tumor, and the sarcoma that surfaced in my 30s is a subtype of another relatively rare tumor. For understandable reasons, much of the data on treating my secondary tumor comes from patients with the most common subtype. But what I began to appreciate is that just because something works for the majority of cases, doesn’t mean that it will work for all cases.

For this reason, I feel it should be a priority to track patients like myself, RB survivors, through adolescence and adulthood to gain more data on the types of tumors that can appear in those carrying an RB gene mutation. While not all RB survivors will develop secondary tumors, the only way to begin to piece together how one cancer predisposition links to another is to collect more data. With relatively few of us out there in the world, the more patients that participate in these types of studies the better. This type of research would also provide insight on causes of the relatively rare secondary tumors, and inform best treatment options for childhood cancer survivors.

A second question I had after diagnosis was whether I could share my tumor samples or other data about my pathology and treatment with a centralized data bank, so that cancer biologists could access the samples along with others from RB patients. I now know that a first step toward this goal is to join the Canadian Retinoblastoma Research Registry. Yet, I expect that determining how to best identify potentially useful samples, how to coordinate the preparation and transport of the tissue to a central sample bank, and how to organize access and distribution of the samples, could all be fruitful areas to explore.

I have no doubt that as I continue to move through my cycles of follow-up, I will have new unanswered questions. I’m really thrilled to participate in this research priority setting study for this reason, but also to hear the perspective of other RB patients and their families. I predict an offshoot of the efforts of the CRRAB, Dr. Dimaras, and her research group will be a stronger RB community, which I look forward to being a part of. If you are reading this and considering whether or how you could contribute, I urge you to join the Canadian Retinoblastoma Research Registry, participate in the Priority Setting Study and reach out to the RB Canada Research group via this site and join us!

Precision Medicine for Retinoblastoma

Watch Dr. Jesse Berry (Ocular Oncologist, Children’s Hospital Los Angeles) describe how a small amount of fluid from the front of the eye, called aqueous humor, may provide information about the genetic profile of retinoblastoma tumors.