Pub Date : 2019-11-13DOI: 10.5772/INTECHOPEN.86811
I. Fabian, Faisal Al Qahtani, Covadonga Bascaran
Retinoblastoma is usually initiated by a random mutation of a gene in a retinal cell. It is important to try and recognise if the child has germline retinoblastoma, as this may affect both eyes of the child. Siblings and future children of the child with retinoblastoma are at greater risk of developing this cancer.
{"title":"Epidemiological and Genetic Considerations in Retinoblastoma","authors":"I. Fabian, Faisal Al Qahtani, Covadonga Bascaran","doi":"10.5772/INTECHOPEN.86811","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.86811","url":null,"abstract":"Retinoblastoma is usually initiated by a random mutation of a gene in a retinal \u0000cell. It is important to try and recognise if the child has germline retinoblastoma, \u0000as this may affect both eyes of the child. Siblings and future children of the child \u0000with retinoblastoma are at greater risk of developing this cancer.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"8 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132737179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-29DOI: 10.5772/intechopen.89410
Heba M. Alsharif, Hala A. Helmi, Azza M. Y. Maktabi
Retinoblastoma (RB) is the most common intraocular tumor in children. It arises from the nuclear layer of the retina, with different growth patterns: endophytic, exophytic, and mixed. Retinoblastoma also has characteristic histopathological appearance with areas of viable tumor, necrosis, and calcifications. The tumor differentiation can be determined by the presence of rosettes—Flexner-Wintersteiner rosettes as well as fleurettes—and tends to become less differentiated with age. Histopathological risk factors are used as prognostic indicators and will be discussed in this chapter together with the typical tissue diagnostic features. These will include optic nerve/choroidal invasion, extraocular extension, and anterior segment involvement. Other prognostic factors with less impact will be discussed as well including the amount of necrosis, mitotic figures, and grading of anaplasia. Furthermore, we will briefly discuss different regression patterns and posttreat-ment findings in enucleated globes.
{"title":"Histopathological Characteristics and Classification for Prognostic Indicators","authors":"Heba M. Alsharif, Hala A. Helmi, Azza M. Y. Maktabi","doi":"10.5772/intechopen.89410","DOIUrl":"https://doi.org/10.5772/intechopen.89410","url":null,"abstract":"Retinoblastoma (RB) is the most common intraocular tumor in children. It arises from the nuclear layer of the retina, with different growth patterns: endophytic, exophytic, and mixed. Retinoblastoma also has characteristic histopathological appearance with areas of viable tumor, necrosis, and calcifications. The tumor differentiation can be determined by the presence of rosettes—Flexner-Wintersteiner rosettes as well as fleurettes—and tends to become less differentiated with age. Histopathological risk factors are used as prognostic indicators and will be discussed in this chapter together with the typical tissue diagnostic features. These will include optic nerve/choroidal invasion, extraocular extension, and anterior segment involvement. Other prognostic factors with less impact will be discussed as well including the amount of necrosis, mitotic figures, and grading of anaplasia. Furthermore, we will briefly discuss different regression patterns and posttreat-ment findings in enucleated globes.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134453882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-19DOI: 10.5772/intechopen.88624
Abdullah I. Almater, A. Alfaleh, Khalid M. Alshomar, Saleh A. Almesfer
{"title":"Retinoblastoma: Update on Current Management","authors":"Abdullah I. Almater, A. Alfaleh, Khalid M. Alshomar, Saleh A. Almesfer","doi":"10.5772/intechopen.88624","DOIUrl":"https://doi.org/10.5772/intechopen.88624","url":null,"abstract":"","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124781052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-09-11DOI: 10.5772/intechopen.89035
Tariq A Alzahem, W. Alsarhani, A. Albahlal, L. Safieh, Saad Aldahmash
The history of retinoblastoma (RB) goes back to 1597 when Pieter Pawius of Amsterdam described a tumor that resembled retinoblastoma. “Fungus haematodes” was the first term used to describe retinoblastoma. Later, the American Ophthalmological Society approved the term retinoblastoma in 1926. The retinoblastoma protein is encoded by the RB1 gene located at 13q14. The functioning model of the tumor suppressor genes was first proposed by Alfred Knudson in the 1970s who precisely explained the hereditary mechanism of retinoblastoma. If both alleles of this gene are mutated, the protein is inactivated and this results in the development of retinoblastoma. One mutation can be either germline or somatic and the second one is always somatic. Differentiation between sporadic and germline retinoblastoma variants requires the identification of the RB1 germline status of the patient. This identification is important for assessing the risk of additional tumors in the same eye, the other eye, and the risk of secondary tumors. Thus, genetic testing is an important component of the management of all children diagnosed with retinoblastoma. In this chapter, we will go over the history, genetics, and counseling for patients with retinoblastoma.
{"title":"History and Genetics of Retinoblastoma","authors":"Tariq A Alzahem, W. Alsarhani, A. Albahlal, L. Safieh, Saad Aldahmash","doi":"10.5772/intechopen.89035","DOIUrl":"https://doi.org/10.5772/intechopen.89035","url":null,"abstract":"The history of retinoblastoma (RB) goes back to 1597 when Pieter Pawius of Amsterdam described a tumor that resembled retinoblastoma. “Fungus haematodes” was the first term used to describe retinoblastoma. Later, the American Ophthalmological Society approved the term retinoblastoma in 1926. The retinoblastoma protein is encoded by the RB1 gene located at 13q14. The functioning model of the tumor suppressor genes was first proposed by Alfred Knudson in the 1970s who precisely explained the hereditary mechanism of retinoblastoma. If both alleles of this gene are mutated, the protein is inactivated and this results in the development of retinoblastoma. One mutation can be either germline or somatic and the second one is always somatic. Differentiation between sporadic and germline retinoblastoma variants requires the identification of the RB1 germline status of the patient. This identification is important for assessing the risk of additional tumors in the same eye, the other eye, and the risk of secondary tumors. Thus, genetic testing is an important component of the management of all children diagnosed with retinoblastoma. In this chapter, we will go over the history, genetics, and counseling for patients with retinoblastoma.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"2016 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127475116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-08-06DOI: 10.5772/INTECHOPEN.86820
A. Kofide, E. Al-Sharif
The treatment of children with retinoblastoma (RB) has evolved from primarily enucleation of the eye(s) to highly selective methods of chemotherapy administration and approach. Indulgent and comprehensive understanding of the multitude of factors including accurate classification and grading of disease, timing and response to therapy, when to consolidate with local methods of therapy, combination regimens to control systemic disease and prevent relapse while minimizing risk of secondary cancers are crucial factors in the management of children with retinoblastoma. Chemotherapy was introduced in the 1950s and has become an integral component in management of RB. Methods of administration range from systemic to locally directed therapy including; intravitreal, periocular and intraarterial chemotherapy. This chapter is intended to discuss the evolution and current chemotherapeutic agents with various routes of administration. The indications, adverse occurrences, short- and long-term complications of both local and systemic treatments will be elucidated.
{"title":"Retinoblastoma Management: Advances in Chemotherapy","authors":"A. Kofide, E. Al-Sharif","doi":"10.5772/INTECHOPEN.86820","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.86820","url":null,"abstract":"The treatment of children with retinoblastoma (RB) has evolved from primarily enucleation of the eye(s) to highly selective methods of chemotherapy administration and approach. Indulgent and comprehensive understanding of the multitude of factors including accurate classification and grading of disease, timing and response to therapy, when to consolidate with local methods of therapy, combination regimens to control systemic disease and prevent relapse while minimizing risk of secondary cancers are crucial factors in the management of children with retinoblastoma. Chemotherapy was introduced in the 1950s and has become an integral component in management of RB. Methods of administration range from systemic to locally directed therapy including; intravitreal, periocular and intraarterial chemotherapy. This chapter is intended to discuss the evolution and current chemotherapeutic agents with various routes of administration. The indications, adverse occurrences, short- and long-term complications of both local and systemic treatments will be elucidated.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129462753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-05DOI: 10.5772/INTECHOPEN.86828
F. Albader, D. Fatani
Retinoblastoma is the most common primary ocular malignancy in children. Diagnosing retinoblastoma relies mainly on the clinical appearance of the lesion and not on histological description. Although histology still remains the gold standard in evaluation of tumor extension and progression risk factor, a tumor biopsy carries high risk of dissemination and is difficult to obtain. Retinoblastoma has characteristic clinical features of creamy-white mass associated with subretinal fluids and may be accompanied by retinal detachment and vitreous seeding. There are many factors contributing to metastatic risk factors like postlaminar optic nerve infiltration, scleral and choroidal invasion, and peribulbar fat invasion. Ancillary testing is necessary for any patient with a suspected retinoblastoma to assess the dimensions of the tumor as well as the tumor extension. An ultrasonography (B scan) will show the mass dimensions as well as the hyperechoic calcifications, which are commonly present with retinoblastoma. CT scan is not the modality of choice for diagnosis of retinoblastoma in children because of the radiation exposure. Magnetic resonance imaging is considered the examination of choice to assess the tumor extension as it has high soft tissue contrast. The use of MRI changed the accuracy of assessing metastatic risk factors as the results yielded before and after the use of MRI differed. This chapter will address the use of radiological imaging in retinoblastoma defining diagnostic characteristics and identifying parameters of metastatic risk factor assessment. This chapter will also include evidence-based review on the efficacy of radiological imaging of retinoblastoma and its impact on the choice of treatment and disease prognosis.
{"title":"Uses of Radiological Imaging in Retinoblastoma","authors":"F. Albader, D. Fatani","doi":"10.5772/INTECHOPEN.86828","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.86828","url":null,"abstract":"Retinoblastoma is the most common primary ocular malignancy in children. Diagnosing retinoblastoma relies mainly on the clinical appearance of the lesion and not on histological description. Although histology still remains the gold standard in evaluation of tumor extension and progression risk factor, a tumor biopsy carries high risk of dissemination and is difficult to obtain. Retinoblastoma has characteristic clinical features of creamy-white mass associated with subretinal fluids and may be accompanied by retinal detachment and vitreous seeding. There are many factors contributing to metastatic risk factors like postlaminar optic nerve infiltration, scleral and choroidal invasion, and peribulbar fat invasion. Ancillary testing is necessary for any patient with a suspected retinoblastoma to assess the dimensions of the tumor as well as the tumor extension. An ultrasonography (B scan) will show the mass dimensions as well as the hyperechoic calcifications, which are commonly present with retinoblastoma. CT scan is not the modality of choice for diagnosis of retinoblastoma in children because of the radiation exposure. Magnetic resonance imaging is considered the examination of choice to assess the tumor extension as it has high soft tissue contrast. The use of MRI changed the accuracy of assessing metastatic risk factors as the results yielded before and after the use of MRI differed. This chapter will address the use of radiological imaging in retinoblastoma defining diagnostic characteristics and identifying parameters of metastatic risk factor assessment. This chapter will also include evidence-based review on the efficacy of radiological imaging of retinoblastoma and its impact on the choice of treatment and disease prognosis.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"2013 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128179171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-06-04DOI: 10.5772/INTECHOPEN.86746
A. Furdová, Juraj Sekáč
Advances in retinoblastoma treatment in children nowadays and in the last decades lead to success and adulthood life without problems. Treatment modalities used in childhood to cure the retinoblastoma can affect health later. Some secondary malignancies in patients with retinoblastoma may be long-term side effects of radiation and chemotherapy. However, rates of second cancers in people treated for hereditary retinoblastoma are higher than in people who had sporadic retinoblastoma. The survivors of retinoblastoma in whom second malignant neoplasms develop are at a higher risk for the development of additional tumors than they were for the development of a second tumor. The standardized incidence rate of secondary malignancies is about 15% in inherited cases and about 1.5% in nonheritable retinoblastoma. However, today there is no clear consensus on what, if any, screening protocol would be most appropriate and effective.
{"title":"Secondary Malignancies in Adulthood and after Retinoblastoma Treatment in Childhood","authors":"A. Furdová, Juraj Sekáč","doi":"10.5772/INTECHOPEN.86746","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.86746","url":null,"abstract":"Advances in retinoblastoma treatment in children nowadays and in the last decades lead to success and adulthood life without problems. Treatment modalities used in childhood to cure the retinoblastoma can affect health later. Some secondary malignancies in patients with retinoblastoma may be long-term side effects of radiation and chemotherapy. However, rates of second cancers in people treated for hereditary retinoblastoma are higher than in people who had sporadic retinoblastoma. The survivors of retinoblastoma in whom second malignant neoplasms develop are at a higher risk for the development of additional tumors than they were for the development of a second tumor. The standardized incidence rate of secondary malignancies is about 15% in inherited cases and about 1.5% in nonheritable retinoblastoma. However, today there is no clear consensus on what, if any, screening protocol would be most appropriate and effective.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"100 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132028709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-04-19DOI: 10.5772/INTECHOPEN.85744
S. Langevin, B. Marr
Retinoblastoma was initially described in a case series by Dr. James Wardrop in 1809. Since then, the evaluation and diagnosis of retinoblastoma has progressed significantly, thus providing a framework for successful therapy with up to 97% survival rate in developed nations. Here we outline the presentation, evaluation, and detailed diagnostic steps of any child presenting with signs and symptoms of retinoblastoma (RB). We detail the questions and pertinent history to obtain, describe in detail the examination under anesthesia, ancillary testing, and recommendations for both anesthesia and neuroimaging. We also cover the differential diagnosis of retinoblastoma and the most common simulating lesions to present to an ophthalmologist. We describe the ways to determine if a patient has retinoblastoma or some simulating lesion, and the characteristics associated with each possibility. Finally, we briefly address genetic counseling and the next steps after diagnosis.
{"title":"Retinoblastoma: Presentation, Evaluation, and Diagnosis","authors":"S. Langevin, B. Marr","doi":"10.5772/INTECHOPEN.85744","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.85744","url":null,"abstract":"Retinoblastoma was initially described in a case series by Dr. James Wardrop in 1809. Since then, the evaluation and diagnosis of retinoblastoma has progressed significantly, thus providing a framework for successful therapy with up to 97% survival rate in developed nations. Here we outline the presentation, evaluation, and detailed diagnostic steps of any child presenting with signs and symptoms of retinoblastoma (RB). We detail the questions and pertinent history to obtain, describe in detail the examination under anesthesia, ancillary testing, and recommendations for both anesthesia and neuroimaging. We also cover the differential diagnosis of retinoblastoma and the most common simulating lesions to present to an ophthalmologist. We describe the ways to determine if a patient has retinoblastoma or some simulating lesion, and the characteristics associated with each possibility. Finally, we briefly address genetic counseling and the next steps after diagnosis.","PeriodicalId":444994,"journal":{"name":"Retinoblastoma - Past, Present and Future","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131183673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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