Living with the Retinoblastoma Cancer Syndrome part 1: Understanding the Risks and Lifelong Care


Monday June 7, 2021


For individuals living with the retinoblastoma cancer syndrome, childhood eye cancer is only the start of the story.  In the first of this two-part series, Rb survivor Abby White explores what the risk is and who it affects, the challenge of establishing personal risk, provision of lifelong follow up care, and early detection of second cancers. With contributions from fellow survivors.


Five creamy white tea light candles in cut crystal candle holders cast a warm glow in the darkness. The central candle holder is shaped like a lotus flower. Tiny points of colour at the base of each petal create a subtle rainbow effect throughout the glass that is very faintly reflected in the glass of the other candle holders, and in the light cast on the wood surface where they rest.

Candles lit this Cancer Survivor weekend for friends lost to second cancers and their effects, for friends in the fight for their lives, and for all of us who live with this risk every day.

My wonderful father died exactly one month before my 21st birthday.  He was 51 years old.  Like me, he was diagnosed with bilateral retinoblastoma, treated with radiotherapy.  The second cancer took his life, but the RB1 mutation that caused retinoblastoma also led to that second cancer.

While retinoblastoma is a highly curable cancer, RB1 kills survivors.  It mauls and destroys our physical and psychological lives.  Yet its damage could be reduced with lifelong care thoughtfully tailored to our unique needs.

I aim to highlight some of those concerns and needs below, with the help of contributions from One Rb World 2012 and 2017, closed group and private discussions.  All quotes are used with permission and gratitude.

Retinoblastoma’s Lifelong Cancer Risk

About half of all children diagnosed with retinoblastoma have a mutation on the RB1 gene in all cells throughout their body.  Carriers of a heritable RB1 mutation have a lifelong risk of developing cancers in addition to retinoblastoma, even if they did not develop tumours in the eye.

Reported incidence of second cancers varies widely, but increases over time, rising to roughly 1 in 3 risk by age 50.  People with a mosaic RB1 mutation have theoretically lower risk, as the mutation affects fewer cells throughout their body.  Radiation increases risk, and is highest if radiotherapy was given before one year old.

Second primary cancers include common adult cancers such as lung, breast, and lymphoma.  Common second primary cancers in RB1 mutation carriers, especially those treated with radiotherapy, are:

Parents, adults with known or suspected RB1 mutation, and their medical team should be aware of the risks and second primary cancer symptoms to advocate early investigation when concerns arise.  Like retinoblastoma, early diagnosis of a second primary cancer has better chance of cure.

The Difference between Secondary Cancer and Second Primary Cancer

The terms secondary cancer and second cancer are often used interchangeably, but they mean very different things.

Secondary Cancer: Another term for metastasis – cancer that has spread from the original site to another part of the body.

Second Cancer (more accurately Second Primary Cancer): A subsequent cancer that is not directly related to the original cancer, arising in a different organ or tissue.

Secondary retinoblastoma has spread from the eye to the brain, bone marrow or other distant sites.  For example, secondary retinoblastoma in the brain is made up of retinoblast cells that travelled from the eye to the brain.

Second primary cancers arise directly from the cells of the bone, skin, soft tissue, brain or other affected tissue or organ – they are not a metastasis of the original retinoblastoma (which was usually cured years before).

Understanding the difference between secondary and second primary cancers can help parents and survivors explain and clarify risk.  Especially when conveying information to medical professionals who are unfamiliar with the lifelong impacts of retinoblastoma.

“I had recurring sinus infections. Every time I told my doctor I was at risk of secondary cancer because of retinoblastoma, and he kept telling me to stop worrying. It took me so long to figure out that he thought I was talking about the eye cancer coming back, and had no clue about the other cancers. He finally sent me to an ENT who ordered an MRI. I was diagnosed with a deviated septum – thank goodness it wasn’t cancer.”

Survivor, UK

The Individual’s Challenge of Establishing Risk

I had bilateral retinoblastoma, as did my father, and my sister had unilateral Rb. So I grew up with an awareness of the heritable nature of the cancer, and potential risks to my children.  My parents were very involved in retinoblastoma peer support and advocacy, but even they did not learn about the second cancer risks for years.

I was never educated about my lifelong risks during retinoblastoma follow up appointments, or given detailed information by my parents.  My knowledge came from harsh real-life experience.

All retinoblastoma survivors, and their relatives who may have an unknown RB1 mutation, should have access to knowledgeable genetic counselling.  To be responsible advocates for their own health and that of their future children, they must be fully informed about their cancer history and genetic status, and all cancer risks associated with RB1.  They must also be able to clearly relay this information to medical professionals, to enable their health care.

However, parents and survivors often struggle to access genetic counselling or testing, either because it is unavailable or is not offered as part of care, they do not understand its value, or they encounter financial / insurance barriers.  Many join social media support groups with inaccurate or incomplete knowledge of retinoblastoma genetics, second cancer risk, how this information applies to themselves, and how to advocate for appropriate care.

Lack of individualised genetic knowledge and education about the lifelong risks associated with RB1 mutation leads to confusion, distress, inability to self-advocate, increased risk of delayed diagnosis and preventable death.

I had unilateral Rb when I was 7 months old that was cured with enucleation.  My parents learned about genetic testing a few years later from other moms. Testing was inconclusive because of the way my eye was stored. We tried to have it redone with my blood a decade later, but insurance wouldn’t pay.

“When I became pregnant, my husband and I were told to assume I had the genetic form of retinoblastoma because I was so young when I was diagnosed and screening would detect tumours early. But when I tried to get into a follow up program, no one wanted to know, which really made me anxious. I was told to do screening to protect my child, but also that my own assumed risk didn’t matter. Which is it? Either there is a risk for both child AND parent that you treat equally, or for neither.

“Shortly after our daughter arrived, my insurance changed, and I had genetic testing done again, which found I almost certainly do not have the mutation. Testing and correct information is so important for all of us!”

Survivor, USA

“I was diagnosed with unilateral retinoblastoma when I was 14 months old.  My parents never had genetic counselling. They say the doctors told them I didn’t have the gene [mutation], but they can’t remember the reasoning.  So I don’t know what they were actually told.

I arranged genetic testing when I was in college and wanted to know more, and it found I actually do have the gene [mutation].  The ophthalmologist never talked with me about this possibility or second cancers.  Everyone is quick to assume that unilateral survivors don’t have any risks. Most times that’s true, but for some of us that assumption can be very wrong.  I’m in my 30s now and battle to get oncology care, but at least I know I need to do that!”

Survivor, USA

Livestream video of the Screening for Survivors Session – One Rb World 2017, Washington D.C., hosted by World Eye Cancer Hope. Session includes four talks, including:

  1. Second Tumors in the RB Population: Which Tumors and When? Ruth Kleinerman, M.P.H, Ph.D. Epidemiologist, and Deputy Branch Chief, Radiation Epidemiology Branch, National Cancer Institute, NIH, Rockville, Maryland, USA.
  2. (09:25) Cancer Survivorship Clinic: Who Should be Referred and Why? David R. Freyer, D.O., M.S. Director, Survivorship & Supportive Care Program, Children’s Center for Cancer and Blood Diseases, Children’s Hospital Los Angeles. Professor of Clinical Pediatrics and Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  3. (23:35) Brain Tumors: Who, When and How to Screen? Katherine Paton, M.D., FRCSC Clinical Professor of Ophthalmology. Head, Ocular Oncology & Director of Diagnostic Ophthalmic Ultrasound Imaging, The University of British Colombia, Vancouver General Hospital; BC Children’s Hospital, Vancouver, Canada.
  4. (39:15) The Adult with Distant History of Retinoblastoma: Practical Tips for Your Primary Care Provider. Dan S. Gombos MD FACS (Session Lead) Professor & Chief, Section of Ophthalmology, MD Anderson Cancer Center.   Clinical Co-Director, The Retinoblastoma Center of Houston, Texas, USA.

Life Long Follow Up

Lifelong oncology follow up care is important for all carriers of an RB1 mutation, whether they had retinoblastoma or not.

Many oncology centres in developed countries have established survivorship clinics.  These programs offer ongoing care to adult survivors, and to individuals at risk of developing cancer due to inherited cancer syndromes.  Many centres conduct research into various aspects of survivorship, but participation is not required to receive care from the program.

Clinics differ widely in the medical professionals providing care and the services offered.  The care team may include:

  • Oncologist.
  • Oncology nurse specialist.
  • Radiation oncologist.
  • Neurologist.
  • Endocrinologist.
  • Genetic counsellor.
  • Neuropsychologist (a psychologist who specialises in the brain and cognitive functioning)
  • Psycho-oncologist (a psychologist who specialises in cancer care)
  • Social worker.

Services may include:

  • Review of the person’s cancer history
  • Education and counselling about the cancer and its treatment
  • Genetic counselling and testing to establish individual future risk.
  • Education and counselling about ongoing cancer risks.

The ideal clinic caring for retinoblastoma survivors will coordinate routine tests, and order investigations if symptoms arise, or liaise with the primary physician to advocate for these.  However, there is no agreed routine screening protocol for RB1 second primary cancers, despite copious published evidence of the high cancer risk and evolution of the survivorship clinic.

Individuals with RB1 mutation are advised to avoid routine CT, x-ray and bone scans, as radiation exposure increases cancer risk.  Retinoblastoma specialists propose that effective Whole Body MRI screening would require multiple scans per year, rendering it impractical and too costly.  They also advise that frequent scanning increases the possibility of identifying concerns that require further investigation and will likely prove to be of no consequence.

Yet individuals worldwide with Li Fraumeni Syndrome – whose cancer risk is similar to the profile of RB1 mutation, are increasingly screened with annual rapid scan Whole Body MRI and brain MRI, following nationally and internationally agreed Li Fraumeni protocols that also recognise the need for psychosocial research and care.  If a Li Fraumeni protocol can be established, why is it so impossible to offer the same screening for we survivors whose lives are threatened and mutilated by RB1?

“I have lost family members and friends to second cancers, and that could be me. I have smoke detectors in my house for early warning – I wouldn’t wait until I’m coughing to take action. Routine scans would help me feel much less anxious about the possible wildfire inside me. I’d rather they find more things that are nothing than miss the one thing that could kill me because no one looked for it.”

Survivor, Canada

Second Cancer Screening Protocol

Contribution from a Retinoblastoma Survivor, USA.

I am a genetic counselor and a retinoblastoma survivor. Part of my motivation to become a genetic counselor was to help people like me understand and be empowered by genetic knowledge.

Imagine my surprise when I sat down with my survivorship team to discuss second cancer risks, and they sadly told me that the main things they could offer were to remind me to stay out of the sun (I had already had burn after burn as a child who loved to swim) and to not smoke (done). I would just have to hope for the best with the other cancers, which seemed incredibly scary and frustrating.

Over time my team followed advances in whole body MRI for Li-Fraumeni syndrome (LFS) patients. First children were receiving whole body MRI, and then over time, adults were being screened too. My team decided to model my screening after the LFS screening protocol since no other recommendations existed.

My screening protocol is as follows:

  • Annual physical exam with neurology exam
  • Annual full body dermatologic exam
  • Breast MRI in High-Risk Breast Clinic
  • Annual Whole body MRI
  • Annual Brain MRI
  • Report any persistent, unexplained symptoms that last more than 2 weeks.

This plan requires extra paperwork and phone calls with insurance carriers in the US, but I have been screening this way for almost 5 years. Recent data also prompted re-review of my case at tumor board and I am now on a BRCA1/2 type breast screening protocol as well.

There was no data to support whole body MRI in LFS patients until people started doing this screening and catching tumors early. At risk patients like myself struggle to understand why the lack of data (not data disproving utility) would keep our care teams from looking for new cancers at least yearly.

The American Cancer Society writes:

Children with the heritable form of retinoblastoma have a much higher risk of developing other types of cancer throughout their lives. This is because each cell in the body has an abnormal RB1 tumor suppressor gene, which if it were normal would help stop some of these cancers from forming.

The risk for these cancers is even higher in any parts of the body that got radiation during treatment for retinoblastoma.

Most of these cancers are very treatable if detected early, which is why it’s very important that these children are followed closely throughout their lives.

Without safe and effective whole body MRI, how can our care teams say they have followed us closely? Have we done our best to catch things early? Most survivors struggle to find survivorship care at all, let alone MRI screening.  As a community, we have lost too many dear friends to soft tissue sarcomas, especially in the field of radiation, time and time again. At the very least, irradiated survivors should receive yearly head and neck MRIs.

Genereviews states:

Total-body MRI at regular intervals is under investigation to determine when the technology will be specific and sensitive enough for screening for second cancers in persons with a heterozygous germline RB1 pathogenic variant.”

But I don’t know of a single survivor, besides myself, who is receiving this surveillance. I know of no study recruiting patients to look at the efficacy of whole body MRI, and if there were, would it be ethical to have a no surveillance arm to the study?  If whole body MRI is “specific and sensitive” enough for LFS, why not retinoblastoma?

As a survivor, I am immensely grateful to my clinicians who spend hours fighting for insurance coverage for me in the US for my yearly whole body MRI. Until we have the data disproving utility, I believe we should follow in the footsteps of LFS and support RB1 mutation carriers as we continue to fight cancers throughout our lifetimes.

Too many brilliant survivors’ lives have been cut short by second malignancies. I believe we owe it to our survivors to empower them with the knowledge and the screening to help catch second malignancies as early as possible.

We counsel many BRCA1/2 patients on rotating mammograms and MRIs, alternating every 6 months, and discuss the potential for false positives and the potential for many biopsies. Retinoblastoma patients may have scares and biopsies, I’ve had a few already myself, but I would rather keep checking. I’ve been poked and prodded all my life, and I’ll take as many more pokes as it takes to stick around for my children as long as I can.

Mental Health within Follow Up Care

Mental health is an important component of follow up care for cancer survivors, particularly for RB1 mutation carriers who face the combined impacts of sight loss, second cancer risk, and cancer risk to our children.  I have attended retinoblastoma survivorship clinics for years, and not once have I been asked about my mental health, or offered advice on mental health care and wellbeing to manage the psychological impacts.  Most of my knowledge, healthy coping skills and care for my own mind has been learned with the support of wise, loving friends, and through active self-education.

Caring for the mind constantly beaten and bruised by the experience of RB1 is often a bigger challenge than caring for the physical body at risk.

With desperation, I have watched friends implode as a result of second cancers and their effects, diminishing sight from retinoblastoma effects, loss of career, friendships, social and recreational opportunities – all things that sustain us through the cancer experience.  Friends followed by medical specialists at multiple hospitals, but no one asking “How are you?”

Who takes responsibility to ensure the mental health of the patient is properly assessed?  Who puts systems in place to support, heal and protect mind and spirit while the cancer and its physical symptoms or effects are addressed – especially when multiple hospitals and teams are involved?

Mental and emotional health deeply impacts the body, and should not be left to chance for individuals with lifelong cancer risk.  Neglecting them can disfigure and kill just as efficiently as the second cancer itself.

“I’ve had several second cancers since Rb. It’s tough. Your family wants the best for you, and you want to do and be the best so they don’t worry so much, to show them you’re unstoppable and to make them proud. But dealing with things all the time that hurt and slow you down is wearifying.”

Survivor, UK

The Impact of Lifelong Risk

Retinoblastoma is rare, and the associated second cancer risks rarer still.  While scientific knowledge and understanding of the risk is growing, individuals living with RB1 mutation see little practical change in medical care.  Most of us have no ongoing oncology care, and when we do, it often does not reflect our specific RB1 risks and needs.  We continue to lose relatives and friends due to late diagnosis of second cancers, and we live with the knowledge of this, our risk.

We need better care.

Please come back for the second half of this article on June 21.  We will look at real-world challenges of accessing healthcare when medical professionals are unfamiliar with the risks and impacts of an RB1 mutation, and the psychological impacts of living with this lifelong cancer risk.

About the Author

Abby’s father was diagnosed with bilateral retinoblastoma in Kenya in 1946. Abby was also born with cancer in both eyes. She has an artificial eye and limited vision in her left eye that is now failing due to late effects of radiotherapy in infancy.

Abby studied geography at university, with emphasis on development in sub-Saharan Africa. She co-founded WE C Hope with Brenda Gallie, responding to the needs of one child and the desire to help many in developing countries.  After receiving many requests for help from American families and adult survivors, she co-founded the US chapter to bring hope and encourage action across the country.

Abby enjoys listening to audio books, creative writing, open water swimming and long country walks.

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