Materiały źródłowe

• #1 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is the most common primary intraocular malignancy in children, representing approximately 3% of all pediatric tumors. This pathology is the 2nd most common intraocular malignant tumor overall. The incidence ranges from 1 in 14,000 to 1 in 20,000 live births, with approximately 300 new cases diagnosed annually in the U.S. While relatively rare, retinoblastomas potential for severe morbidity and mortality underscores the importance of understanding its epidemiological patterns. […] The global incidence of retinoblastoma is estimated to be approximately 1 in 15,000 to 20,000 live births, resulting in around 8,000 new cases annually. This figure corresponds to about 10 to 15 cases per million children younger than 5. The incidence is relatively constant across populations, reflecting a stable mutation rate in the RB1 gene, which drives most cases.

• #2 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Retinoblastoma is a relatively uncommon tumor of childhood that arises in the retina. It accounts for about 3% of the cancers occurring in children younger than 15 years. […] Thus, while the estimated annual incidence in the United States is approximately 3 cases per 1 million children younger than 20 years, the age-adjusted annual incidence in children aged 0 to 4 years is 18.4 cases per 1 million. […] In children with a positive family history of retinoblastoma, early-in-life screening by fundus examination is performed under general anesthesia at regular intervals. […] Screening children with a positive family history of retinoblastoma can improve their prognosis, in terms of globe sparing and use of less intensive, ocular-salvage treatments. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment.

• #3 Understanding retinoblastoma: epidemiology and genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5998389/

  Retinoblastoma is the most common eye cancer of childhood. However, it is a relatively rare disease, occurring in approximately one out of every 16,000-18,000 live births in the global population. Its incidence is similar across populations, and does not vary according to gender, ethnicity or socio-economic status. Worldwide, approximately 8,000 children develop retinoblastoma each year, with the vast majority presenting with the disease before the age of 5 years. […] It is very important that germline retinoblastoma is recognised. If you see a child with retinoblastoma in one eye, do not assume that it is non-germline: it is estimated that 10-20% of children who present with unilateral disease have germline retinoblastoma. […] Non-germline retinoblastoma affects just one eye. It is the more common type of retinoblastoma. As the name implies, non-germline retinoblastoma is not inherited from parents and cannot be passed on to future generations. It develops due to two random mutations in the RB1 gene in one cell of the retina. It is also known as sporadic or somatic retinoblastoma.

• #4 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is the most common primary intraocular malignancy in children, representing approximately 3% of all pediatric tumors. This pathology is the 2nd most common intraocular malignant tumor overall. The incidence ranges from 1 in 14,000 to 1 in 20,000 live births, with approximately 300 new cases diagnosed annually in the U.S. While relatively rare, retinoblastomas potential for severe morbidity and mortality underscores the importance of understanding its epidemiological patterns. […] The global incidence of retinoblastoma is estimated to be approximately 1 in 15,000 to 20,000 live births, resulting in around 8,000 new cases annually. This figure corresponds to about 10 to 15 cases per million children younger than 5. The incidence is relatively constant across populations, reflecting a stable mutation rate in the RB1 gene, which drives most cases.

• #5 Understanding retinoblastoma: epidemiology and genetics | Community Eye Health Journal

  https://cehjournal.org/articles/323

  Retinoblastoma is the most common eye cancer of childhood. However, it is a relatively rare disease, occurring in approximately one out of every 16,000-18,000 live births in the global population. Its incidence is similar across populations, and does not vary according to gender, ethnicity or socio-economic status. Worldwide, approximately 8,000 children develop retinoblastoma each year, with the vast majority presenting with the disease before the age of 5 years. […] It is very important that germline retinoblastoma is recognised. If you see a child with retinoblastoma in one eye, do not assume that it is non-germline: it is estimated that 10-20% of children who present with unilateral disease have germline retinoblastoma. […] Non-germline retinoblastoma affects just one eye. It is the more common type of retinoblastoma. As the name implies, non-germline retinoblastoma is not inherited from parents and cannot be passed on to future generations. It develops due to two random mutations in the RB1 gene in one cell of the retina.

• #6 Retinoblastoma: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1222849-overview

  An estimated 250-500 new cases of retinoblastoma occur in the United States yearly. […] Worldwide, the incidence of retinoblastoma is recorded to be about 11 cases per million children younger than 5 years. A more commonly used estimate is 1 case of retinoblastoma per 18,000-30,000 live births, depending on the country. […] In the Philippines, unpublished reports have estimated the incidence to be more than 1 case of retinoblastoma per 18,000 live births. […] Survival rates for patients with retinoblastoma range from a reported 86-92%. However, these figures must be kept in the context of the retinoblastoma cancers. […] In actuality, the survival rate drops with each decade of life for patients with the genomic mutation. […] Mortality in these individuals is consequently much higher than rates for those with somatic mutations (ie, affecting one retinal cell only and unilateral-unifocal disease).

• #7 Key Statistics for Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/about/key-statistics.html

  Retinoblastoma is the most common type of eye cancer in children. It accounts for about 2% of all childhood cancers. Still, it is rare overall. Only about 200 to 300 children are diagnosed with retinoblastoma each year in the United States. […] Retinoblastoma is most common in infants and very young children. The average age of children is 2 when it is diagnosed. It rarely occurs in children older than 6. […] Retinoblastoma occurs about equally in boys and girls and in different races and ethnicities. It also occurs equally in the right or left eye. […] Overall, more than 9 out of 10 children in the United States with retinoblastoma are cured, but the outlook is not as good if the cancer has spread outside of the eye.

• #8 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Retinoblastoma is a relatively uncommon tumor of childhood that arises in the retina. It accounts for about 3% of the cancers occurring in children younger than 15 years. […] Thus, while the estimated annual incidence in the United States is approximately 3 cases per 1 million children younger than 20 years, the age-adjusted annual incidence in children aged 0 to 4 years is 18.4 cases per 1 million. […] In children with a positive family history of retinoblastoma, early-in-life screening by fundus examination is performed under general anesthesia at regular intervals. […] Screening children with a positive family history of retinoblastoma can improve their prognosis, in terms of globe sparing and use of less intensive, ocular-salvage treatments. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment.

• #9

  https://link.springer.com/article/10.1007/s12098-024-05085-2

  Retinoblastoma (RB) is the most common intraocular tumor in childhood. […] Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. […] The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. […] Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. […] Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. […] The review provides a consensus document on diagnosis and genetics of RB in India.

• #10 Retinoblastoma genetics screening and clinical management | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-01034-6

  India accounts for 20% of the global retinoblastoma (RB) burden. […] RB occurs due to the two-hit hypothesis of Knudson, which is because of loss-of-function of the tumour suppressor RB1 gene, owing to homozygous allelic mutations, loss of heterozygosity mechanism or gene silencing. […] Genetic screening could play a vital role in management of RB which could influence various crucial clinical management decisions. […] Hereditary RB tends to be early in onset, bilateral and multifocal, hence needs continuous surveillance for effective management. […] Hence they need lifelong follow-ups, as opposed to sporadic cases, which may not have genetic predisposition. […] In our study, we identified mutations in 86% of BLRB patients and 19% in ULRB which is comparable to other global studies, however we could not find any mutation in 4 BLRB patients and this could be because of various reasons including mosaicism and somatic MYCN gene mutations, which we did not study.

• #11 Epidemiology, Clinical Management, and Genetic Counseling of Retinoblastoma in Vietnam | SpringerLink

  https://link.springer.com/chapter/10.1007/978-981-99-4436-1_8

  Vietnam is a low- to middle-income ASEAN country with a population of about 98 million people. Annually, there are 1.5 million newborns, and the number of new cases of RB is about 80-100 patients/year, 75-80% of which have unilateral tumors, while 20-25% have bilateral tumors. The incidence did not differ by sex, ethnicity, or geographical area. The average age of diagnosis of bilateral RB was 20.9 ± 16.7 months and of unilateral RB was 25.6 ± 16.6 months. The majority of children present with leukocoria (60%) and/or strabismus (12-20%). Due to limited knowledge, poor economy, and lack of diagnostic facilities, up to 80% of patients have a delayed treatment of about 1 month later than standard. However, the number of cases of extra orbital RB has decreased to only 0.15%, and there are no untreated deaths. The 5-year survival rate reached 92.5%. Genetic testing and counseling for affected families with RB has grown in recent decades. Test methods include Sanger sequencing, MLPA, and next-generation gene sequencing. The gene mutation spectrum including minor mutations and large deletion mutations of the RB1 gene is constantly being updated by geneticists. Prenatal diagnosis has been also applied accurately and effectively to some families where one parent carries the disease gene. Along with socioeconomic development, RB management and treatment have improved significantly in Vietnam over the years. However, there are still some difficulties and inadequacies that need to be overcome in order to better treat patients.

• #12 Retinoblastoma statistics | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/retinoblastoma/statistics

  Retinoblastoma is the most commonly diagnosed eye cancer in Canadian children. It is rare in adults. Statistics on retinoblastoma and other eye cancers in adults are found in eye cancer statistics. […] In 2019, there were 15 Canadian children aged 0 to 14 diagnosed with retinoblastoma. […] In 2022, no Canadian children died from retinoblastoma.

• #13 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma primarily affects children younger than 5, with a median age at diagnosis of 12 months for bilateral cases and 24 months for unilateral cases. Approximately 95% of cases are diagnosed before age 5, with 90% identified before age 3. Meanwhile, occurrence in older children and adults is exceedingly rare. […] Incidence varies geographically, with reported rates of 6 cases per million in Mexico and 4 cases per million in the U.S. The highest incidence has been observed in India and Africa. […] Survival rates and outcomes vary significantly between high-income (HICs) and low- and middle-income countries (LMICs). In HICs, survival rates exceed 95% due to early diagnosis, advanced medical infrastructure, and access to comprehensive care. Most cases are detected at an early stage, allowing for eye-preserving treatments. In LMICs, survival rates range from 30% to 60%, with even lower rates in some regions of sub-Saharan Africa and South Asia. Late diagnosis and limited access to specialized care often result in worse outcomes, frequently requiring enucleation or leading to extraocular spread and metastatic disease.

• #14 Retinoblastoma: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1222849-overview

  The greatest predictor of death is extraocular extension, either directly through the sclera or via extension along the optic nerve. […] No racial predilection appears to exist for retinoblastoma. […] No difference in incidence exists among blacks and whites. […] Studies show no significant difference in the incidence of retinoblastoma by sex for children aged 0-14 years. […] The estimated boy-to-girl ratio is reportedly 1.12:1. […] Retinoblastoma is diagnosed in patients at an average of 18 months, with 90% of cases diagnosed in patients younger than 5 years. […] Children who are affected bilaterally are diagnosed at an average age of 13 months, while patients with unilateral retinoblastoma are diagnosed at an average age of 24 months. […] When a known family history of retinoblastoma exists, patients with bilateral retinoblastoma are diagnosed at an average age of 11 months. […] A few cases of retinoblastoma in adults (aged 20 y and older) have been reported in the literature. Some theorize that these lesions arise from a previously existing retinocytoma that underwent malignant transformation.

• #15 Key Statistics for Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/about/key-statistics.html

  Retinoblastoma is the most common type of eye cancer in children. It accounts for about 2% of all childhood cancers. Still, it is rare overall. Only about 200 to 300 children are diagnosed with retinoblastoma each year in the United States. […] Retinoblastoma is most common in infants and very young children. The average age of children is 2 when it is diagnosed. It rarely occurs in children older than 6. […] Retinoblastoma occurs about equally in boys and girls and in different races and ethnicities. It also occurs equally in the right or left eye. […] Overall, more than 9 out of 10 children in the United States with retinoblastoma are cured, but the outlook is not as good if the cancer has spread outside of the eye.

• #16 Retinoblastoma: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1222849-overview

  The greatest predictor of death is extraocular extension, either directly through the sclera or via extension along the optic nerve. […] No racial predilection appears to exist for retinoblastoma. […] No difference in incidence exists among blacks and whites. […] Studies show no significant difference in the incidence of retinoblastoma by sex for children aged 0-14 years. […] The estimated boy-to-girl ratio is reportedly 1.12:1. […] Retinoblastoma is diagnosed in patients at an average of 18 months, with 90% of cases diagnosed in patients younger than 5 years. […] Children who are affected bilaterally are diagnosed at an average age of 13 months, while patients with unilateral retinoblastoma are diagnosed at an average age of 24 months. […] When a known family history of retinoblastoma exists, patients with bilateral retinoblastoma are diagnosed at an average age of 11 months. […] A few cases of retinoblastoma in adults (aged 20 y and older) have been reported in the literature. Some theorize that these lesions arise from a previously existing retinocytoma that underwent malignant transformation.

• #17 Key Statistics for Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/about/key-statistics.html

  Retinoblastoma is the most common type of eye cancer in children. It accounts for about 2% of all childhood cancers. Still, it is rare overall. Only about 200 to 300 children are diagnosed with retinoblastoma each year in the United States. […] Retinoblastoma is most common in infants and very young children. The average age of children is 2 when it is diagnosed. It rarely occurs in children older than 6. […] Retinoblastoma occurs about equally in boys and girls and in different races and ethnicities. It also occurs equally in the right or left eye. […] Overall, more than 9 out of 10 children in the United States with retinoblastoma are cured, but the outlook is not as good if the cancer has spread outside of the eye.

• #18 Retinoblastoma | Concise Medical Knowledge

  https://www.lecturio.com/concepts/retinoblastoma/

  Most common primary intraocular malignancy of childhood. […] Incidence: 1 in 15,000 live births in the United States. […] Girls and boys are affected equally. […] Accounts for about 4% of malignant tumors in children 15 years of age. […] Approximately 95% of affected children are diagnosed before the age of 5. […] The median age of diagnosis is 18-20 months. […] Approximately 40% of cases are heritable. […] Survival in resource-rich countries: 95%. […] Survival in resource-limited/developing countries: 30%.

• #19 Retinoblastoma (Cancer of the eye) | Children with Cancer UK

  http://www.childrenwithcancer.org.uk/childhood-cancer-info/cancer-types/retinoblastoma/

  Retinoblastoma, also known as eye cancer in children, is a type of cancer that affects the light-sensitive lining at the back of the eye (called the retina) and has a survival rate of 99%. […] Around 44 children are diagnosed with retinoblastoma every year in the UK. Around two-fifths (40%) of cases are diagnosed in the first year of life and incidence rates drop to a very low rate after five years of age. […] Overall, incidence is similar among males and females but there is a male excess of bilateral retinoblastoma (5:4) and a female excess of unilateral retinoblastoma (6:5). […] Children will have regular follow-ups to check for any recurrence of the cancer and for any problems which may arise as a result of the treatment they were given. […] Nearly all children with retinoblastoma are cured.

• #20 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma primarily affects children younger than 5, with a median age at diagnosis of 12 months for bilateral cases and 24 months for unilateral cases. Approximately 95% of cases are diagnosed before age 5, with 90% identified before age 3. Meanwhile, occurrence in older children and adults is exceedingly rare. […] Incidence varies geographically, with reported rates of 6 cases per million in Mexico and 4 cases per million in the U.S. The highest incidence has been observed in India and Africa. […] Survival rates and outcomes vary significantly between high-income (HICs) and low- and middle-income countries (LMICs). In HICs, survival rates exceed 95% due to early diagnosis, advanced medical infrastructure, and access to comprehensive care. Most cases are detected at an early stage, allowing for eye-preserving treatments. In LMICs, survival rates range from 30% to 60%, with even lower rates in some regions of sub-Saharan Africa and South Asia. Late diagnosis and limited access to specialized care often result in worse outcomes, frequently requiring enucleation or leading to extraocular spread and metastatic disease.

• #21 Retinoblastoma: An Epidemiological Appraisal with Reference to a Population in Mumbai, India

  https://journal.waocp.org/article_24039.html

  Reliable data on incidence and mortality for childhood cancers are available from only a few areas in the developing countries. In Europe, North America and Australia, retinoblastomas account for 2-4 percent of the total and the relative frequency is similar in Asia. In contrast, in African countries retinoblastomas account for 10 to 15% of cancers in children. In Mumbai, during the 13-year period in question, there were only 211 cases of malignant tumors of the eyes. Of these, 147 were retinoblastomas, 84 in males and 63 in females, with crude incidence rates per million population of 4.0 and 3.1, respectively. The corresponding age adjusted incidence rates per million population were 4.2 and 3.3. The crude values were found to be higher in Muslims as compared to Hindus and other religious groups, in both sexes. The highest annual age standardized incidence rates for retinoblastomas, in excess of 7 per million population have been observed in the Fortaleza area of Brazil, Nigeria (Ibadan) and Uganda-Kampala. Retinoblastomas have the lowest median age of all childhood malignancies, approximately 15 months. The male to female ratio generally fluctuates around unity but our data indicated a higher proportion in males. Ethnic differences in the frequencies of unilateral and bilateral retinoblastomas are apparent. There is little evidence that any significant change in the incidence of retinoblastoma over time has occurred in any part of the world.

• #22 Retinoblastoma: An Epidemiological Appraisal with Reference to a Population in Mumbai, India

  https://journal.waocp.org/article_24039.html

  Reliable data on incidence and mortality for childhood cancers are available from only a few areas in the developing countries. In Europe, North America and Australia, retinoblastomas account for 2-4 percent of the total and the relative frequency is similar in Asia. In contrast, in African countries retinoblastomas account for 10 to 15% of cancers in children. In Mumbai, during the 13-year period in question, there were only 211 cases of malignant tumors of the eyes. Of these, 147 were retinoblastomas, 84 in males and 63 in females, with crude incidence rates per million population of 4.0 and 3.1, respectively. The corresponding age adjusted incidence rates per million population were 4.2 and 3.3. The crude values were found to be higher in Muslims as compared to Hindus and other religious groups, in both sexes. The highest annual age standardized incidence rates for retinoblastomas, in excess of 7 per million population have been observed in the Fortaleza area of Brazil, Nigeria (Ibadan) and Uganda-Kampala. Retinoblastomas have the lowest median age of all childhood malignancies, approximately 15 months. The male to female ratio generally fluctuates around unity but our data indicated a higher proportion in males. Ethnic differences in the frequencies of unilateral and bilateral retinoblastomas are apparent. There is little evidence that any significant change in the incidence of retinoblastoma over time has occurred in any part of the world.

• #23 Retinoblastoma: present scenario and future challenges | Cell Communication and Signaling | Full Text

  https://biosignaling.biomedcentral.com/articles/10.1186/s12964-023-01223-z

  Most of the estimated incidence of retinoblastoma varies by country from 3.4 to 42.6 cases per million live births. […] In the United States alone, the incidence is 11.8 affected per million live births among children less than 5 years of age. This accounts to a global average of 8200 new cases per year, out of which 60% of cases are unilateral and 40% are bilateral. […] The future of survivors of retinoblastoma is tough as they have chances of developing other cancers due to metastasis or germline mutation. […] A stable incidence rate has been observed in the United States for about 40 years from 1973-to 2012 based on a report. […] The incidence of retinoblastoma has been increasing in European nations when compared to previous reports. […] A higher incidence of retinoblastoma has been found in white population of South Africa, probably due to better access to diagnosis and management. […] Retinoblastoma presenting at later stages is common in developing countries and examination of children during primary care visits is essential to improve diagnosis and survival.

• #24 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is broadly categorized into hereditary and sporadic forms, each with distinct epidemiological patterns. Hereditary retinoblastoma accounts for 45% of cases and often presents as bilateral or multifocal tumors. Affected individuals inherit a germline RB1 mutation, which carries a 50% chance of transmission to offspring. These cases tend to be diagnosed earlier than sporadic cases, with a median age of onset of 12 months. In addition to eye involvement, hereditary retinoblastoma is associated with an increased risk of secondary malignancies later in life, including osteosarcoma, soft tissue sarcoma, and melanoma. […] Sporadic retinoblastoma comprises 55% of cases and typically manifests as a unilateral, unifocal tumor. Unlike hereditary cases, sporadic retinoblastoma results from 2 somatic mutations in the RB1 gene occurring within retinal cells. The median age of onset is later, around 24 months. Since these cases lack germline mutations, affected individuals do not have an elevated risk of developing secondary malignancies.

• #25 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is broadly categorized into hereditary and sporadic forms, each with distinct epidemiological patterns. Hereditary retinoblastoma accounts for 45% of cases and often presents as bilateral or multifocal tumors. Affected individuals inherit a germline RB1 mutation, which carries a 50% chance of transmission to offspring. These cases tend to be diagnosed earlier than sporadic cases, with a median age of onset of 12 months. In addition to eye involvement, hereditary retinoblastoma is associated with an increased risk of secondary malignancies later in life, including osteosarcoma, soft tissue sarcoma, and melanoma. […] Sporadic retinoblastoma comprises 55% of cases and typically manifests as a unilateral, unifocal tumor. Unlike hereditary cases, sporadic retinoblastoma results from 2 somatic mutations in the RB1 gene occurring within retinal cells. The median age of onset is later, around 24 months. Since these cases lack germline mutations, affected individuals do not have an elevated risk of developing secondary malignancies.

• #26 Understanding retinoblastoma: epidemiology and genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5998389/

  Retinoblastoma is the most common eye cancer of childhood. However, it is a relatively rare disease, occurring in approximately one out of every 16,000-18,000 live births in the global population. Its incidence is similar across populations, and does not vary according to gender, ethnicity or socio-economic status. Worldwide, approximately 8,000 children develop retinoblastoma each year, with the vast majority presenting with the disease before the age of 5 years. […] It is very important that germline retinoblastoma is recognised. If you see a child with retinoblastoma in one eye, do not assume that it is non-germline: it is estimated that 10-20% of children who present with unilateral disease have germline retinoblastoma. […] Non-germline retinoblastoma affects just one eye. It is the more common type of retinoblastoma. As the name implies, non-germline retinoblastoma is not inherited from parents and cannot be passed on to future generations. It develops due to two random mutations in the RB1 gene in one cell of the retina. It is also known as sporadic or somatic retinoblastoma.

• #27 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is broadly categorized into hereditary and sporadic forms, each with distinct epidemiological patterns. Hereditary retinoblastoma accounts for 45% of cases and often presents as bilateral or multifocal tumors. Affected individuals inherit a germline RB1 mutation, which carries a 50% chance of transmission to offspring. These cases tend to be diagnosed earlier than sporadic cases, with a median age of onset of 12 months. In addition to eye involvement, hereditary retinoblastoma is associated with an increased risk of secondary malignancies later in life, including osteosarcoma, soft tissue sarcoma, and melanoma. […] Sporadic retinoblastoma comprises 55% of cases and typically manifests as a unilateral, unifocal tumor. Unlike hereditary cases, sporadic retinoblastoma results from 2 somatic mutations in the RB1 gene occurring within retinal cells. The median age of onset is later, around 24 months. Since these cases lack germline mutations, affected individuals do not have an elevated risk of developing secondary malignancies.

• #28 Retinoblastoma Survivors Follow-up Study – NCI

  https://dceg.cancer.gov/research/cancer-types/retinoblastoma

  DCEG researchers are studying survivors of retinoblastoma (Rb), a cancer that forms in the tissues of the retina (the light-sensitive layers of nerve tissue at the back of the eye). […] Improvements in treatment over the past century have greatly increased survival for retinoblastoma, a rare pediatric ocular tumor caused by germline and/or somatic mutations in the RB1 tumor suppressor gene. However, survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1 mutations), have elevated risks of developing additional malignancies, a major cause of morbidity and mortality. […] Since the mid-1980s, the Radiation Epidemiology Branch (REB) of the NCI has followed a cohort of 2,136 individuals who were diagnosed with retinoblastoma between 1914-2007 at two hospital centers (Boston and New York City). The aim of the study is to investigate risk for subsequent primary cancers and mortality.

• #29 Understanding retinoblastoma: epidemiology and genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5998389/

  Retinoblastoma is the most common eye cancer of childhood. However, it is a relatively rare disease, occurring in approximately one out of every 16,000-18,000 live births in the global population. Its incidence is similar across populations, and does not vary according to gender, ethnicity or socio-economic status. Worldwide, approximately 8,000 children develop retinoblastoma each year, with the vast majority presenting with the disease before the age of 5 years. […] It is very important that germline retinoblastoma is recognised. If you see a child with retinoblastoma in one eye, do not assume that it is non-germline: it is estimated that 10-20% of children who present with unilateral disease have germline retinoblastoma. […] Non-germline retinoblastoma affects just one eye. It is the more common type of retinoblastoma. As the name implies, non-germline retinoblastoma is not inherited from parents and cannot be passed on to future generations. It develops due to two random mutations in the RB1 gene in one cell of the retina. It is also known as sporadic or somatic retinoblastoma.

• #30 Retinoblastoma – EyeWiki

  https://eyewiki.org/Retinoblastoma

  Genetic testing for RB1 mutations is recommended for all cases of retinoblastoma if possible. Bilateral cases will most likely be germline positive for RB1 mutations or more rarely demonstrate mosaicism where some somatic cells are normal and others carry RB1 mutations. Unilateral cases are more often sporadic and somatic retinoblastoma without germline RB1 mutations. However as mentioned above, about 15% of unilateral cases have a germline RB1 mutation. […] Patients who undergo any form of eye sparing treatment (external beam radiation, chemoreduction) need frequent follow-up examinations. Tumor regression is followed closely, documenting the appearance, size, location, and number of tumors during each examination.

• #31 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is broadly categorized into hereditary and sporadic forms, each with distinct epidemiological patterns. Hereditary retinoblastoma accounts for 45% of cases and often presents as bilateral or multifocal tumors. Affected individuals inherit a germline RB1 mutation, which carries a 50% chance of transmission to offspring. These cases tend to be diagnosed earlier than sporadic cases, with a median age of onset of 12 months. In addition to eye involvement, hereditary retinoblastoma is associated with an increased risk of secondary malignancies later in life, including osteosarcoma, soft tissue sarcoma, and melanoma. […] Sporadic retinoblastoma comprises 55% of cases and typically manifests as a unilateral, unifocal tumor. Unlike hereditary cases, sporadic retinoblastoma results from 2 somatic mutations in the RB1 gene occurring within retinal cells. The median age of onset is later, around 24 months. Since these cases lack germline mutations, affected individuals do not have an elevated risk of developing secondary malignancies.

• #32 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is broadly categorized into hereditary and sporadic forms, each with distinct epidemiological patterns. Hereditary retinoblastoma accounts for 45% of cases and often presents as bilateral or multifocal tumors. Affected individuals inherit a germline RB1 mutation, which carries a 50% chance of transmission to offspring. These cases tend to be diagnosed earlier than sporadic cases, with a median age of onset of 12 months. In addition to eye involvement, hereditary retinoblastoma is associated with an increased risk of secondary malignancies later in life, including osteosarcoma, soft tissue sarcoma, and melanoma. […] Sporadic retinoblastoma comprises 55% of cases and typically manifests as a unilateral, unifocal tumor. Unlike hereditary cases, sporadic retinoblastoma results from 2 somatic mutations in the RB1 gene occurring within retinal cells. The median age of onset is later, around 24 months. Since these cases lack germline mutations, affected individuals do not have an elevated risk of developing secondary malignancies.

• #33 Understanding retinoblastoma: epidemiology and genetics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5998389/

  Retinoblastoma is the most common eye cancer of childhood. However, it is a relatively rare disease, occurring in approximately one out of every 16,000-18,000 live births in the global population. Its incidence is similar across populations, and does not vary according to gender, ethnicity or socio-economic status. Worldwide, approximately 8,000 children develop retinoblastoma each year, with the vast majority presenting with the disease before the age of 5 years. […] It is very important that germline retinoblastoma is recognised. If you see a child with retinoblastoma in one eye, do not assume that it is non-germline: it is estimated that 10-20% of children who present with unilateral disease have germline retinoblastoma. […] Non-germline retinoblastoma affects just one eye. It is the more common type of retinoblastoma. As the name implies, non-germline retinoblastoma is not inherited from parents and cannot be passed on to future generations. It develops due to two random mutations in the RB1 gene in one cell of the retina. It is also known as sporadic or somatic retinoblastoma.

• #34 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma primarily affects children younger than 5, with a median age at diagnosis of 12 months for bilateral cases and 24 months for unilateral cases. Approximately 95% of cases are diagnosed before age 5, with 90% identified before age 3. Meanwhile, occurrence in older children and adults is exceedingly rare. […] Incidence varies geographically, with reported rates of 6 cases per million in Mexico and 4 cases per million in the U.S. The highest incidence has been observed in India and Africa. […] Survival rates and outcomes vary significantly between high-income (HICs) and low- and middle-income countries (LMICs). In HICs, survival rates exceed 95% due to early diagnosis, advanced medical infrastructure, and access to comprehensive care. Most cases are detected at an early stage, allowing for eye-preserving treatments. In LMICs, survival rates range from 30% to 60%, with even lower rates in some regions of sub-Saharan Africa and South Asia. Late diagnosis and limited access to specialized care often result in worse outcomes, frequently requiring enucleation or leading to extraocular spread and metastatic disease.

• #35 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma primarily affects children younger than 5, with a median age at diagnosis of 12 months for bilateral cases and 24 months for unilateral cases. Approximately 95% of cases are diagnosed before age 5, with 90% identified before age 3. Meanwhile, occurrence in older children and adults is exceedingly rare. […] Incidence varies geographically, with reported rates of 6 cases per million in Mexico and 4 cases per million in the U.S. The highest incidence has been observed in India and Africa. […] Survival rates and outcomes vary significantly between high-income (HICs) and low- and middle-income countries (LMICs). In HICs, survival rates exceed 95% due to early diagnosis, advanced medical infrastructure, and access to comprehensive care. Most cases are detected at an early stage, allowing for eye-preserving treatments. In LMICs, survival rates range from 30% to 60%, with even lower rates in some regions of sub-Saharan Africa and South Asia. Late diagnosis and limited access to specialized care often result in worse outcomes, frequently requiring enucleation or leading to extraocular spread and metastatic disease.

• #36 Key Statistics for Retinoblastoma | American Cancer Society

  https://www.cancer.org/cancer/types/retinoblastoma/about/key-statistics.html

  Retinoblastoma is the most common type of eye cancer in children. It accounts for about 2% of all childhood cancers. Still, it is rare overall. Only about 200 to 300 children are diagnosed with retinoblastoma each year in the United States. […] Retinoblastoma is most common in infants and very young children. The average age of children is 2 when it is diagnosed. It rarely occurs in children older than 6. […] Retinoblastoma occurs about equally in boys and girls and in different races and ethnicities. It also occurs equally in the right or left eye. […] Overall, more than 9 out of 10 children in the United States with retinoblastoma are cured, but the outlook is not as good if the cancer has spread outside of the eye.

• #37 Retinoblastoma: Treatment and outcome – UpToDate

  https://www.uptodate.com/contents/retinoblastoma-treatment-and-outcome

  Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers within the first year of life. […] Untreated retinoblastoma is a deadly disease; however, with advances in treatment, survival in the contemporary era is >95 percent. […] Prompt referral to an ocular oncologist and appropriate management by a multidisciplinary team are necessary to optimize visual outcome and ocular and overall survival. […] Management of children with retinoblastoma is best accomplished by a multidisciplinary team, which can consolidate clinic visits and provide the caregivers with opportunities to discuss the full spectrum of treatment and outcomes.

• #38 Subsequent Malignant Neoplasms in Retinoblastoma Survivors

  https://www.mdpi.com/2072-6694/13/6/1200

  Currently survival from retinoblastoma exceeds 95% in high-income/resource countries. […] Life expectancy within the heritable retinoblastoma population is mainly threatened by trilateral retinoblastoma in early childhood and subsequent malignant neoplasms throughout life. […] In this review the risks of specific subsequent malignant neoplasms and trilateral Rb, age at onset and influence of therapy are examined. Furthermore, long-term surveillance guidelines in the heritable retinoblastoma survivors are discussed. […] Heritable Rb survivors have life-long elevated risks for SMNs. […] In fact, survivors who have received radiation therapy for treatment of their Rb, have a 50% SMN risk during 50 years of follow-up. […] A recommendation guideline for long-term surveillance in heritable Rb survivors has been published in 2020.

• #39 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma primarily affects children younger than 5, with a median age at diagnosis of 12 months for bilateral cases and 24 months for unilateral cases. Approximately 95% of cases are diagnosed before age 5, with 90% identified before age 3. Meanwhile, occurrence in older children and adults is exceedingly rare. […] Incidence varies geographically, with reported rates of 6 cases per million in Mexico and 4 cases per million in the U.S. The highest incidence has been observed in India and Africa. […] Survival rates and outcomes vary significantly between high-income (HICs) and low- and middle-income countries (LMICs). In HICs, survival rates exceed 95% due to early diagnosis, advanced medical infrastructure, and access to comprehensive care. Most cases are detected at an early stage, allowing for eye-preserving treatments. In LMICs, survival rates range from 30% to 60%, with even lower rates in some regions of sub-Saharan Africa and South Asia. Late diagnosis and limited access to specialized care often result in worse outcomes, frequently requiring enucleation or leading to extraocular spread and metastatic disease.

• #40 Retinoblastoma in Mexico: Part I. A review of general knowledge of the disease, diagnosis, and management | Boletín Médico del Hospital Infantil de México (English Edition)

  https://www.elsevier.es/en-revista-boletin-medico-del-hospital-infantil-201-articulo-retinoblastoma-in-mexico-part-i–X2444340915456345

  Retinoblastoma (Rb) is the most common primary malignancy in children, most frequently occurring in children 15 Accurate incident rates can be difficult to estimate, especially in developing countries that lack a national Rb registry. In fact, a recent study from the Asia-Pacific region would suggest that cases of Rb are being underreported by 50%.6 […] A curable cancer, Rb survival rates in the developed world range from 90-95%, mainly due to early diagnosis of the disease and to the advances made over the past few decades in conservative treatment.5,7,8 However, survival rates are significantly lower in developing countries; in Africa, they are estimated as low as 20%, and 3,000 annual childhood deaths are attributed worldwide to Rb.810 The poorer outcomes in developing countries have been associated with late diagnosis and treatment, lower educational levels of the mother, lack of access to health services, and treatment abandonment by families of the patient.1113

• #41 Retinoblastoma: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1222849-overview

  The greatest predictor of death is extraocular extension, either directly through the sclera or via extension along the optic nerve. […] No racial predilection appears to exist for retinoblastoma. […] No difference in incidence exists among blacks and whites. […] Studies show no significant difference in the incidence of retinoblastoma by sex for children aged 0-14 years. […] The estimated boy-to-girl ratio is reportedly 1.12:1. […] Retinoblastoma is diagnosed in patients at an average of 18 months, with 90% of cases diagnosed in patients younger than 5 years. […] Children who are affected bilaterally are diagnosed at an average age of 13 months, while patients with unilateral retinoblastoma are diagnosed at an average age of 24 months. […] When a known family history of retinoblastoma exists, patients with bilateral retinoblastoma are diagnosed at an average age of 11 months. […] A few cases of retinoblastoma in adults (aged 20 y and older) have been reported in the literature. Some theorize that these lesions arise from a previously existing retinocytoma that underwent malignant transformation.

• #42

  https://link.springer.com/article/10.1007/s12098-024-05085-2

  Retinoblastoma (RB) is the most common intraocular tumor in childhood. […] Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. […] The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. […] Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. […] Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. […] The review provides a consensus document on diagnosis and genetics of RB in India.

• #43 Retinoblastoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545276/

  Retinoblastoma is rarely fatal in HICs, with 5-year survival rates exceeding 95%. Early diagnosis and the use of eye-preserving treatments, such as IAC and focal therapies, contribute to these high survival rates. In contrast, survival rates in LMICs are significantly lower due to limiting factors, including late diagnosis, poor access to specialized care, and a high prevalence of advanced disease at the time of presentation. Many children in these regions present with extraocular retinoblastoma, a form of the disease that carries a poor prognosis and often results in fatality without aggressive treatment. […] Global disparities exist in the management of retinoblastoma. In LMICs, delayed diagnosis often results from restrictive cultural beliefs, limited access to healthcare, and a lack of awareness among caregivers and primary care providers, contributing to late-stage presentations that significantly increase mortality rates. Furthermore, many LMICs lack the necessary infrastructure and trained personnel to provide advanced diagnostic imaging, chemotherapy, and radiotherapy, which are essential for effective treatment. Economic barriers also play a major role, as the high costs of treatment, including systemic chemotherapy and specialized surgeries like enucleation, create significant challenges in resource-limited settings.

• #44 Retinoblastoma – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/retinoblastoma/

  All children known to be at risk of retinoblastoma should have a follow-up surveillance plan in place by two weeks of age. […] All pregnancies identified as being at increased risk of retinoblastoma (due to an affected parent or sibling) should have antenatal or perinatal molecular investigations. Early studies of non-invasive prenatal diagnosis utilising cell-free fetal DNA (cffDNA) have provided informative results, and in future may enable pre-delivery surveillance decisions.

• #45 Retinoblastoma management update (part 2): treatment, screening and surveillance, long-term follow-up and new developments | Eye News

  https://www.eyenews.uk.com/features/ophthalmology/post/retinoblastoma-management-update-part-2-treatment-screening-and-surveillance-long-term-follow-up-and-new-developments

  Retinoblastoma treatment requires significant multidisciplinary input, but early detection through raising awareness remains key to improving outcomes. […] In this article, we will discuss the current management of retinoblastoma patients, screening and surveillance of family members, long-term follow-up and potential future developments. […] Screening close relatives of retinoblastoma patients is invaluable in early detection and treatment, saving eyes and lives. If the mutation for the index case is known, testing can be offered to relatives to determine if they are at risk of suffering / passing on the disease. […] Most centres will have protocols for screening. A suggested protocol is shown in Table 2. Screening is not needed if the relative does not carry the mutation. This approach helps avoid unnecessary screening, and focuses resources. Ideally the first screening exam for neonates with a close family history of retinoblastoma is performed in the obstetric unit before discharge, and subsequent examinations can be arranged with ophthalmic units or units familiar with retinoblastoma management. […] The role of long-term screening of retinoblastoma survivors is not clearly defined in the literature. Patient education and health awareness play a key role in minimising delay in diagnosis and treatment of second malignancies in these patients.

• #46 Retinoblastoma – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/retinoblastoma/

  All children known to be at risk of retinoblastoma should have a follow-up surveillance plan in place by two weeks of age. […] All pregnancies identified as being at increased risk of retinoblastoma (due to an affected parent or sibling) should have antenatal or perinatal molecular investigations. Early studies of non-invasive prenatal diagnosis utilising cell-free fetal DNA (cffDNA) have provided informative results, and in future may enable pre-delivery surveillance decisions.

• #47 Retinoblastoma – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/retinoblastoma/

  All children known to be at risk of retinoblastoma should have a follow-up surveillance plan in place by two weeks of age. All pregnancies identified as being at increased risk of retinoblastoma (due to an affected parent or sibling) should have antenatal or perinatal molecular investigations. Early studies of non-invasive prenatal diagnosis utilising cell-free fetal DNA (cffDNA) have provided informative results, and in future may enable pre-delivery surveillance decisions.

• #48 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Retinoblastoma is a relatively uncommon tumor of childhood that arises in the retina. It accounts for about 3% of the cancers occurring in children younger than 15 years. […] Thus, while the estimated annual incidence in the United States is approximately 3 cases per 1 million children younger than 20 years, the age-adjusted annual incidence in children aged 0 to 4 years is 18.4 cases per 1 million. […] In children with a positive family history of retinoblastoma, early-in-life screening by fundus examination is performed under general anesthesia at regular intervals. […] Screening children with a positive family history of retinoblastoma can improve their prognosis, in terms of globe sparing and use of less intensive, ocular-salvage treatments. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment.

• #49 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Retinoblastoma is a relatively uncommon tumor of childhood that arises in the retina. It accounts for about 3% of the cancers occurring in children younger than 15 years. […] Thus, while the estimated annual incidence in the United States is approximately 3 cases per 1 million children younger than 20 years, the age-adjusted annual incidence in children aged 0 to 4 years is 18.4 cases per 1 million. […] In children with a positive family history of retinoblastoma, early-in-life screening by fundus examination is performed under general anesthesia at regular intervals. […] Screening children with a positive family history of retinoblastoma can improve their prognosis, in terms of globe sparing and use of less intensive, ocular-salvage treatments. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment.

• #50 Retinoblastoma Treatment (PDQ®): Treatment – Health Professional Information [NCI] – Health Information Library | PeaceHealth

  https://www.peacehealth.org/medical-topics/id/ncicdr0000062846

  It is common practice to use ophthalmic examinations to screen the parents and siblings of patients with retinoblastoma to exclude an unknown familial disease. However, in the absence of genetic testing, the screening plan for a child with a biological parent who had unilateral retinoblastoma is not well defined. […] Children with a germline RB1 pathogenic variant may continue to develop new tumors for a few years after diagnosis and treatment. For this reason, these patients need to be examined frequently. It is common practice for examinations to occur every 2 to 4 months for at least 28 months. […] Because of the poor prognosis for patients with trilateral retinoblastoma, screening with neuroimaging until age 5 years is a common practice in the monitoring of children with the heritable form of the disease.

• #51 Retinoblastoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq

  Because of the poor prognosis for patients with trilateral retinoblastoma, screening with neuroimaging until age 5 years is a common practice in the monitoring of children with the heritable form of the disease. […] While retinoblastoma is a highly curable disease, the challenge is to preserve life and to prevent the loss of an eye, blindness, and other serious effects of treatment that reduce the patient’s life span or quality of life. […] The staging of patients with retinoblastoma requires close coordination of radiologists, pediatric oncologists, and ophthalmologists. […] The extent of intraocular disease, which is relevant for ocular salvage, is documented by grouping systems. […] The prognosis for patients with Group E eyes who are treated with systemic chemotherapy and local control measures is very poor without radiation therapy.

• #52 Retinoblastoma (Eye Cancer in Children) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/retinoblastoma

  To monitor for the development of pineal gland involvement, patients should undergo MRI examinations of the brain every six months until age 5. […] About 60 percent of children with retinoblastoma have the non-hereditary form of the disease, which always manifests as a unilateral disease. […] If neither parent has had retinoblastoma and the child is at least 2 years old at diagnosis, the probability of having the hereditary form is very small. […] All children with bilateral eye involvement and somewhere between 10 and 15 percent of children with unilateral disease have the hereditary form of retinoblastoma.

• #53 RB1 (non-retinoblastoma cancer risk) – risk management

  https://www.eviq.org.au/cancer-genetics/paediatric/risk-management/3704-rb1-non-retinoblastoma-cancer-risk-risk-m

  The overall risk of developing a SPT is approximately 36% by 40 years after diagnosis of retinoblastoma. […] The risk of a SPT is lowest in the group treated with enucleation or focal treatment only, higher for the group treated with radiation therapy, and highest for the group treated with radiation therapy plus chemotherapy. […] More than 80% of midline brain tumours are diagnosed within three years of retinoblastoma diagnosis, and over 90% within five years. […] Although evidence for a benefit of ongoing surveillance for midline brain tumours is limited, many retinoblastoma treatment centres in the USA recommend brain MRI every six months until age five years.

• #54 Subsequent Malignant Neoplasms in Retinoblastoma Survivors

  https://www.mdpi.com/2072-6694/13/6/1200

  Currently survival from retinoblastoma exceeds 95% in high-income/resource countries. […] Life expectancy within the heritable retinoblastoma population is mainly threatened by trilateral retinoblastoma in early childhood and subsequent malignant neoplasms throughout life. […] In this review the risks of specific subsequent malignant neoplasms and trilateral Rb, age at onset and influence of therapy are examined. Furthermore, long-term surveillance guidelines in the heritable retinoblastoma survivors are discussed. […] Heritable Rb survivors have life-long elevated risks for SMNs. […] In fact, survivors who have received radiation therapy for treatment of their Rb, have a 50% SMN risk during 50 years of follow-up. […] A recommendation guideline for long-term surveillance in heritable Rb survivors has been published in 2020.

• #55 RB1 (non-retinoblastoma cancer risk) – risk management

  https://www.eviq.org.au/cancer-genetics/paediatric/risk-management/3704-rb1-non-retinoblastoma-cancer-risk-risk-m

  The overall risk of developing a SPT is approximately 36% by 40 years after diagnosis of retinoblastoma. […] The risk of a SPT is lowest in the group treated with enucleation or focal treatment only, higher for the group treated with radiation therapy, and highest for the group treated with radiation therapy plus chemotherapy. […] More than 80% of midline brain tumours are diagnosed within three years of retinoblastoma diagnosis, and over 90% within five years. […] Although evidence for a benefit of ongoing surveillance for midline brain tumours is limited, many retinoblastoma treatment centres in the USA recommend brain MRI every six months until age five years.

• #56 Subsequent Malignant Neoplasms in Retinoblastoma Survivors

  https://www.mdpi.com/2072-6694/13/6/1200

  The panel first assessed the risk evidence for different types of SMNs, the strongest risk evidence was seen for the sarcoma and melanoma. […] Also for brain and other CNS tumors strong evidence exist but especially when heritable Rb survivors were treated with radiotherapy. […] Currently, there is no evidence yet that any surveillance method has been able to extend life in heritable Rb survivors. […] The use of whole-body (WB) MRI as non-invasive screening modality in long-term follow-up of heritable Rb survivors has been studied in a tertiary cancer center in the USA. […] A multicenter study should be done in order to assess the impact of WB-MRI screening on SMN-related mortality.

• #57 Automatic Retinoblastoma Screening and Surveillance Using Deep Learning | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.08.23.22279103.full

  Retinoblastoma is the most common intraocular malignancy in childhood. With the advanced management strategy, the global salvage and overall survival have significantly improved, which proposes subsequent challenges regarding long-term surveillance and offspring screening. […] Improved overall survival and successful local control propose subsequent challenges regarding long-term surveillance after tumor control and screening for the offspring and relatives of retinoblastoma survivors. The current expert consensus recommends every 26 months for 4 years after tumor control. […] The DLA-RB aims to assist the fundus surveillance after local control and provide referral advice. The DLA-RB also provides automatic surveillance of the contralateral eye of retinoblastoma patients and the offspring of retinoblastoma survivors.

• #58 Automatic retinoblastoma screening and surveillance using deep learning | British Journal of Cancer

  https://www.nature.com/articles/s41416-023-02320-z

  Retinoblastoma is the most common intraocular malignancy in childhood. […] This study aimed to apply a deep learning algorithm to reduce the burden of follow-up and offspring screening. […] DLA-RB achieved high accuracy and sensitivity in identifying active retinoblastoma from the normal and stable retinoblastoma fundus. It can be used to surveil the activity of retinoblastoma during follow-up and screen high-risk offspring. Compared with referral procedures to ophthalmologic centres, DLA-RB-based screening and surveillance is cost-effective and can be incorporated within telemedicine programs.

• #59 Automatic Retinoblastoma Screening and Surveillance Using Deep Learning | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.08.23.22279103.full

  Retinoblastoma is the most common intraocular malignancy in childhood. With the advanced management strategy, the global salvage and overall survival have significantly improved, which proposes subsequent challenges regarding long-term surveillance and offspring screening. […] Improved overall survival and successful local control propose subsequent challenges regarding long-term surveillance after tumor control and screening for the offspring and relatives of retinoblastoma survivors. The current expert consensus recommends every 26 months for 4 years after tumor control. […] The DLA-RB aims to assist the fundus surveillance after local control and provide referral advice. The DLA-RB also provides automatic surveillance of the contralateral eye of retinoblastoma patients and the offspring of retinoblastoma survivors.

• #60 Automatic Retinoblastoma Screening and Surveillance Using Deep Learning | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.08.23.22279103.full

  DLA-RB could accurately identify active retinoblastoma tumors from all clinical-suspected retinoblastoma. […] DLA-RB could also accurately distinguish active retinoblastoma from stable retinoblastoma. […] DLA-RB achieved high accuracy and sensitivity in identifying active retinoblastoma from the normal fundus and stable retinoblastoma fundus. Compared with referral procedures to ophthalmologic centers, DLA-RB based automatic screening and activity surveillance is also cost-effective. In the future, DLA-RB can incorporate telemedicine programs to reduce the burden in diagnosis and follow-up and concentrate the limited health-care resource in making multidisciplinary management.

• #61 Automatic Retinoblastoma Screening and Surveillance Using Deep Learning | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.08.23.22279103v1

  Retinoblastoma is the most common intraocular malignancy in childhood. With the advanced management strategy, the global salvage and overall survival have significantly improved, which proposes subsequent challenges regarding long-term surveillance and offspring screening. […] Cost-utility analysis revealed that DLA-RB based diagnosis mode is more cost-effective in both retinoblastoma diagnosis and retinoblastoma activity surveillance. The DLA-RB achieved high accuracy and sensitivity in identifying active retinoblastoma from the normal and stable retinoblastoma fundus. It can be incorporated within telemedicine programs in the future.

• #62 New Imaging Method Can Diagnose and Direct Treatment of Rare Pediatric Retinoblastoma | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/clinical-updates/new-imaging-method-can-diagnose-and-direct-treatment-rare-pediatric-retinoblastoma

  Decreasing values for apparent diffusion coefficient (ADC) mapping derived from MRI may indicate the development of trilateral retinoblastoma in pediatric patients with bilateral retinoblastoma, according to our retrospective study published recently in the Journal of Pediatric Hematology/Oncology. […] Based on our findings, we recommend that ADC values under 750 should prompt surgical consideration for trilateral retinoblastoma. […] Trilateral retinoblastoma is a well-defined yet rare pediatric cancer with an incidence of 3.5 percent in patients with the heritable form of retinoblastoma. […] The incidence of pineal trilateral retinoblastoma is 4.2 percent in bilateral cases, and the odds of a nonpineal trilateral retinoblastoma are 0.8 percent. […] The median age of diagnosis is 23 to 40 months.

• #63 Subsequent Malignant Neoplasms in Retinoblastoma Survivors

  https://www.mdpi.com/2072-6694/13/6/1200

  The panel first assessed the risk evidence for different types of SMNs, the strongest risk evidence was seen for the sarcoma and melanoma. […] Also for brain and other CNS tumors strong evidence exist but especially when heritable Rb survivors were treated with radiotherapy. […] Currently, there is no evidence yet that any surveillance method has been able to extend life in heritable Rb survivors. […] The use of whole-body (WB) MRI as non-invasive screening modality in long-term follow-up of heritable Rb survivors has been studied in a tertiary cancer center in the USA. […] A multicenter study should be done in order to assess the impact of WB-MRI screening on SMN-related mortality.

• #64 Retinoblastoma – EyeWiki

  https://eyewiki.org/Retinoblastoma

  Genetic testing for RB1 mutations is recommended for all cases of retinoblastoma if possible. Bilateral cases will most likely be germline positive for RB1 mutations or more rarely demonstrate mosaicism where some somatic cells are normal and others carry RB1 mutations. Unilateral cases are more often sporadic and somatic retinoblastoma without germline RB1 mutations. However as mentioned above, about 15% of unilateral cases have a germline RB1 mutation. […] Patients who undergo any form of eye sparing treatment (external beam radiation, chemoreduction) need frequent follow-up examinations. Tumor regression is followed closely, documenting the appearance, size, location, and number of tumors during each examination.

• #65 Retinoblastoma – EyeWiki

  https://eyewiki.org/Retinoblastoma

  Genetic testing for RB1 mutations is recommended for all cases of retinoblastoma if possible. Bilateral cases will most likely be germline positive for RB1 mutations or more rarely demonstrate mosaicism where some somatic cells are normal and others carry RB1 mutations. Unilateral cases are more often sporadic and somatic retinoblastoma without germline RB1 mutations. However as mentioned above, about 15% of unilateral cases have a germline RB1 mutation. […] Patients who undergo any form of eye sparing treatment (external beam radiation, chemoreduction) need frequent follow-up examinations. Tumor regression is followed closely, documenting the appearance, size, location, and number of tumors during each examination.

• #66

  https://link.springer.com/article/10.1007/s12098-024-05085-2

  Retinoblastoma (RB) is the most common intraocular tumor in childhood. […] Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. […] The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. […] Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. […] Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. […] The review provides a consensus document on diagnosis and genetics of RB in India.

• #67 Retinoblastoma – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/retinoblastoma/

  All children known to be at risk of retinoblastoma should have a follow-up surveillance plan in place by two weeks of age. […] All pregnancies identified as being at increased risk of retinoblastoma (due to an affected parent or sibling) should have antenatal or perinatal molecular investigations. Early studies of non-invasive prenatal diagnosis utilising cell-free fetal DNA (cffDNA) have provided informative results, and in future may enable pre-delivery surveillance decisions.

• #68 Retinoblastoma – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506150-retinoblastoma-market-insight-epidemiology-market.html

  The Retinoblastoma epidemiology division provide insights about historical and current Retinoblastoma patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Retinoblastoma epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Retinoblastoma epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #69 #retinoblastoma #epidemiology #pediatriconcology #ophthalmology… | Ahmed Samir Alfaar

  https://www.linkedin.com/posts/ahmadsfar_retinoblastoma-epidemiology-pediatriconcology-activity-7295194026226454529-vVZt

  The Largest Study on Retinoblastoma Incidence and Survival in the USA After years of work, Im humbled to share our latest study, now published in Ophthalmic Genetics: „Nationwide incidence and survival of retinoblastoma in the USA between 1996 and 2018”. This study addresses a long-standing gap in our understanding of retinoblastoma epidemiology. […] By leveraging the North American Association of Central Cancer Registries (NAACCR) and National Program of Cancer Registries (NPCR), our work analyzed 5,730 cases, covering 99% of the US populationthe most comprehensive national dataset to date. […] Key Findings: Crude incidence rate: 0.89 per million, with a small but significant decline over time (-0.75% per year). […] Early diagnosis is improving: A rising percentage of cases were diagnosed in the first year of life, suggesting better surveillance. […] While this study concludes a decade-long effort, it also opens new questions about the evolving epidemiology of retinoblastoma, disparities in incidence, and the impact of changing treatment paradigms.

• #70 #retinoblastoma #epidemiology #pediatriconcology #ophthalmology… | Ahmed Samir Alfaar

  https://www.linkedin.com/posts/ahmadsfar_retinoblastoma-epidemiology-pediatriconcology-activity-7295194026226454529-vVZt

  The Largest Study on Retinoblastoma Incidence and Survival in the USA After years of work, Im humbled to share our latest study, now published in Ophthalmic Genetics: „Nationwide incidence and survival of retinoblastoma in the USA between 1996 and 2018”. This study addresses a long-standing gap in our understanding of retinoblastoma epidemiology. […] By leveraging the North American Association of Central Cancer Registries (NAACCR) and National Program of Cancer Registries (NPCR), our work analyzed 5,730 cases, covering 99% of the US populationthe most comprehensive national dataset to date. […] Key Findings: Crude incidence rate: 0.89 per million, with a small but significant decline over time (-0.75% per year). […] Early diagnosis is improving: A rising percentage of cases were diagnosed in the first year of life, suggesting better surveillance. […] While this study concludes a decade-long effort, it also opens new questions about the evolving epidemiology of retinoblastoma, disparities in incidence, and the impact of changing treatment paradigms.

• #71 Retinoblastoma Survivors’ Vision Influenced by Race, Insurance

  https://www.reviewofoptometry.com/article/retinoblastoma-survivors-vision-influenced-by-race-insurance

  Enucleation rates for retinoblastoma are also significantly higher among Black, Hispanic and children from low-income families, according to the literature. […] Survival rates among children with retinoblastoma have improved over the last 20 years, but sociodemographic disparities continue to influence health. […] The underlying factors driving the relationship between race, ethnicity and long-term visual outcomes of retinoblastoma survivors are complex and poorly understood, the researchers wrote in their Ophthalmic Epidemiology paper. […] Furthermore, children from disadvantaged backgrounds may be at greater risk of retinoblastoma-related adverse outcomes due to lack of access to care such as routine screening and delayed diagnosis. Early diagnosis is linked with better survival and eye preservation.

• #72 Retinoblastoma Survivors’ Vision Influenced by Race, Insurance

  https://www.reviewofoptometry.com/article/retinoblastoma-survivors-vision-influenced-by-race-insurance

  Enucleation rates for retinoblastoma are also significantly higher among Black, Hispanic and children from low-income families, according to the literature. […] Survival rates among children with retinoblastoma have improved over the last 20 years, but sociodemographic disparities continue to influence health. […] The underlying factors driving the relationship between race, ethnicity and long-term visual outcomes of retinoblastoma survivors are complex and poorly understood, the researchers wrote in their Ophthalmic Epidemiology paper. […] Furthermore, children from disadvantaged backgrounds may be at greater risk of retinoblastoma-related adverse outcomes due to lack of access to care such as routine screening and delayed diagnosis. Early diagnosis is linked with better survival and eye preservation.

• #73 Retinoblastoma in Mexico: Part I. A review of general knowledge of the disease, diagnosis, and management | Boletín Médico del Hospital Infantil de México (English Edition)

  https://www.elsevier.es/en-revista-boletin-medico-del-hospital-infantil-201-articulo-retinoblastoma-in-mexico-part-i–X2444340915456345

  Retinoblastoma (Rb) is the most common primary malignancy in children, most frequently occurring in children 15 Accurate incident rates can be difficult to estimate, especially in developing countries that lack a national Rb registry. In fact, a recent study from the Asia-Pacific region would suggest that cases of Rb are being underreported by 50%.6 […] A curable cancer, Rb survival rates in the developed world range from 90-95%, mainly due to early diagnosis of the disease and to the advances made over the past few decades in conservative treatment.5,7,8 However, survival rates are significantly lower in developing countries; in Africa, they are estimated as low as 20%, and 3,000 annual childhood deaths are attributed worldwide to Rb.810 The poorer outcomes in developing countries have been associated with late diagnosis and treatment, lower educational levels of the mother, lack of access to health services, and treatment abandonment by families of the patient.1113

• #74 Retinoblastoma – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506150-retinoblastoma-market-insight-epidemiology-market.html

  The Retinoblastoma epidemiology division provide insights about historical and current Retinoblastoma patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Retinoblastoma epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Retinoblastoma epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #75 Retinoblastoma – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506150-retinoblastoma-market-insight-epidemiology-market.html

  The Retinoblastoma epidemiology division provide insights about historical and current Retinoblastoma patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Retinoblastoma epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Retinoblastoma epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #76 Subsequent Malignant Neoplasms in Retinoblastoma Survivors

  https://www.mdpi.com/2072-6694/13/6/1200

  The panel first assessed the risk evidence for different types of SMNs, the strongest risk evidence was seen for the sarcoma and melanoma. […] Also for brain and other CNS tumors strong evidence exist but especially when heritable Rb survivors were treated with radiotherapy. […] Currently, there is no evidence yet that any surveillance method has been able to extend life in heritable Rb survivors. […] The use of whole-body (WB) MRI as non-invasive screening modality in long-term follow-up of heritable Rb survivors has been studied in a tertiary cancer center in the USA. […] A multicenter study should be done in order to assess the impact of WB-MRI screening on SMN-related mortality.

• #77 Retinoblastoma: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/retinoblastoma

  Retinoblastoma is rare. There are about 3.3 cases per 1 million people under age 20. In that age group, there are a little over 300 new cases annually in the U.S. and slightly under 9,000 new cases worldwide. […] The overall survival rate for pediatric retinoblastoma is 95%. The odds of a good outcome including avoiding loss of vision are best with a diagnosis before age 2. […] People who survive retinoblastoma will need lifelong surveillance for new cancers. This usually involves yearly scans or other tests that can detect new tumors. Your provider can tell you what surveillance measures they recommend for your case.

• #78 Retinoblastoma management update (part 2): treatment, screening and surveillance, long-term follow-up and new developments | Eye News

  https://www.eyenews.uk.com/features/ophthalmology/post/retinoblastoma-management-update-part-2-treatment-screening-and-surveillance-long-term-follow-up-and-new-developments

  Retinoblastoma treatment requires significant multidisciplinary input, but early detection through raising awareness remains key to improving outcomes. […] In this article, we will discuss the current management of retinoblastoma patients, screening and surveillance of family members, long-term follow-up and potential future developments. […] Screening close relatives of retinoblastoma patients is invaluable in early detection and treatment, saving eyes and lives. If the mutation for the index case is known, testing can be offered to relatives to determine if they are at risk of suffering / passing on the disease. […] Most centres will have protocols for screening. A suggested protocol is shown in Table 2. Screening is not needed if the relative does not carry the mutation. This approach helps avoid unnecessary screening, and focuses resources. Ideally the first screening exam for neonates with a close family history of retinoblastoma is performed in the obstetric unit before discharge, and subsequent examinations can be arranged with ophthalmic units or units familiar with retinoblastoma management. […] The role of long-term screening of retinoblastoma survivors is not clearly defined in the literature. Patient education and health awareness play a key role in minimising delay in diagnosis and treatment of second malignancies in these patients.

Zobacz więcej