The first 60 days: Retinoblastoma
An eye cancer of infants caused by loss of the RB1 gene, the first tumour-suppressor gene ever found. In rich countries almost every child survives and most eyes are saved by chemotherapy delivered through the eye's artery; in low-income countries, where most cases occur, survival depends on finding it early, and that is the global gap. Below, week by week, is what OnCo's record of Retinoblastoma says about the first two months: the order is typical, the timing is yours to ask about. Sections appear only where the record has something to say. Orientation, not medical advice.
What happens now
Staging tests establish exactly what and where the cancer is. Everything else follows from the answers.
Ask which of these were tested and what the results were; see the report reader for what each value means.
These specialties appear in the standard of care for this cancer. In most centres they meet weekly as a tumour board to agree each plan; you can ask when yours was discussed and what was decided.
- PathologistNamed in the standard of care for: Advanced unilateral (group E, no vision potential), Surveillance and genetics.
- SurgeonNamed in the standard of care for: Eye-salvage (groups B-D, bilateral).
- Medical oncologistNamed in the standard of care for: Advanced unilateral (group E, no vision potential), Eye-salvage (groups B-D, bilateral), Extraocular / metastatic.
- Clinical oncologist (radiotherapy)Named in the standard of care for: Eye-salvage (groups B-D, bilateral), Extraocular / metastatic.
- Transplant and cell therapy teamNamed in the standard of care for: Advanced unilateral (group E, no vision potential), Eye-salvage (groups B-D, bilateral), Extraocular / metastatic.
A second opinion from a centre that treats many similar cases is normal, not rude; the standard of care tells you what to compare it against.
Each row is a setting from the standard of care, in the order it usually arises. Not all will apply to you; your stage and biomarkers decide which do. The guideline grade, where recorded, says how strong the evidence is.
Intensive multi-agent chemotherapy with autologous stem-cell rescue; radiotherapy to orbit; CNS disease is the hardest to cure.
Primary enucleation with long optic nerve segment; adjuvant chemotherapy (VEC) for high-risk pathology; orbital implant.
Intra-arterial melphalan (± topotecan, carboplatin) via ophthalmic artery, or systemic chemoreduction (vincristine, etoposide, carboplatin) with consolidating laser, cryotherapy or plaque brachytherapy; intravitreal melphalan for vitreous seeds.
Serial examinations under anaesthesia until ~7 years; germline RB1 testing; screening of at-risk relatives from birth; lifelong second-cancer awareness in carriers.
Generated from this cancer's standard of care, biomarkers and open problems. Take the group that matches where you are. To tick, add your own and print, open the one-page appointment sheet.
Newly diagnosed
- What is my exact diagnosis, stage, and grade, and which tests established them?Everything else follows from an accurate stage and subtype.
- Which biomarkers have been tested on my tumour (for example Germline RB1 testing, IIRC group A-E and TNMH stage, High-risk pathology after enucleation, Aqueous humour cfDNA, MYCN amplification), and what were the results?These results decide eligibility for targeted therapy, immunotherapy, and trials.
- Which subtype is my cancer, and does that change the recommended treatment?Recognised subtypes for this cancer include Heritable, Non-heritable unilateral, MYCN-amplified RB1-wild-type.
- Is germline (inherited) genetic testing recommended for me or my family?Inherited variants can change treatment and matter for relatives.
Advanced unilateral (group E, no vision potential)
- For my situation (advanced unilateral (group e, no vision potential)), which of the standard options do you recommend and why?Guideline options include: Primary enucleation with long optic nerve segment; adjuvant chemotherapy (VEC) for high-risk pathology; orbital implant.
- Am I a candidate for Vincristine, Etoposide, Carboplatin, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
Eye-salvage (groups B-D, bilateral)
- For my situation (eye-salvage (groups b-d, bilateral)), which of the standard options do you recommend and why?Guideline options include: Intra-arterial melphalan (± topotecan, carboplatin) via ophthalmic artery, or systemic chemoreduction (vincristine, etoposide, carboplatin) with consolidating laser, cryotherapy or plaque brachytherapy; intravitreal melphalan for vitreous seeds.
- Am I a candidate for Melphalan (including hepatic delivery system), Carboplatin, Etoposide or related drugs, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
Extraocular / metastatic
- For my situation (extraocular / metastatic), which of the standard options do you recommend and why?Guideline options include: Intensive multi-agent chemotherapy with autologous stem-cell rescue; radiotherapy to orbit; CNS disease is the hardest to cure.
- Am I a candidate for Cyclophosphamide, Carboplatin, Etoposide, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
Surveillance and genetics
- For my situation (surveillance and genetics), which of the standard options do you recommend and why?Guideline options include: Serial examinations under anaesthesia until ~7 years; germline RB1 testing; screening of at-risk relatives from birth; lifelong second-cancer awareness in carriers.
Any stage
- Are there clinical trials I could join, for example of Melphalan (including hepatic delivery system), Liquid biopsy (ctDNA)?Trials are how the next standard of care is set; asking early keeps options open.
- Would a second opinion at a high-volume centre change anything, and can you help arrange it?Rare or high-stakes decisions benefit from a centre that treats many similar patients.
- What supportive care (symptom control, nutrition, exercise, mental health, financial help) is available from the start?Supportive care improves quality of life and helps patients complete treatment.
- I read that “Late diagnosis in low-income countries; paediatric ophthalmology access is the lever”. How does that affect my plan?Open problems are where trials and second opinions matter most.
- I read that “Second primary cancers in RB1 carriers across life”. How does that affect my plan?Open problems are where trials and second opinions matter most.
Trials open now for this cancer in OnCo, largest phase first. Joining a trial is a decision like any other: ask what the comparison arm is, whether a placebo is used, and what happens if you leave. The cancer page searches ClinicalTrials.gov live for more.
Much of what helps in the first weeks is free if you know to ask: testing, helplines, rides and lodging, second opinions, trial travel.
- Retinoblastoma: the full pageAn eye cancer of infants caused by loss of the RB1 gene, the first tumour-suppressor gene ever found. In rich countries almost every child survives and most eyes are saved by chemotherapy delivered through the eye's artery; in low-income countries, where most cases occur, survival depends on finding it early, and that is the global gap.
- One-page appointment sheetYour questions, the words you may hear, what to bring, and space for the answers. Print it.
- Treatment sequencingWhich treatment tends to follow which, line by line.
- NavigatorStandard of care for your stage, what you have tried, and trials near you.
- Somatic mutation theory of cancer: The standard account: cancer begins when a single body cell picks up mutations in the genes that control growth, and its descendants inherit them.
- Germline vs somatic mutations: Germline mutations are inherited and in every cell; somatic mutations arise in the tumour only.
- Hereditary cancer syndromes: About 5-10% of cancers arise from an inherited gene fault.
Every term links to the glossary.