This genetic form of retinoblastoma accounts for about 40% of cases and always occurs in very young children, typically 1 year old or younger. Intraocularly, it exhibits a variety of growth patterns, which have been described as. The retinoblastoma protein its structure and its role in cancer by ariel lefkovith cancers retinoblatoma breast cancer cervical cancer colorectal cancer endometrial. Approximately 45% of children with retinoblastoma have the heritable form. Retinoblastoma is a cancer of the eye that occurs only in children, and typically in very young children. Created by alyse, emily and todd, students at the university of missouri columbia for genetic diseases, bio 2002, ws07. Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. Retinoblastoma with both endophytic and exophytic photograph reveals a retinoblastoma with both endophytic and exophytic growth patterns courtesy of tatyana milman, md. Protocol for the study and treatment of participants with intraocular retinoblastoma the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Retinoblastoma by toni dempsey ben landry natalie parsley guy staton tiffany wilcox ashley willmann what is retinoblastoma. Retinoblastoma both gross and histopathologic images of retinoblastoma invading the optic. The most widely held concept of histogenesis of retinoblastoma holds that it generally arises from a multipotential precursor cell mutation in the long arm of chromosome band q14 that could develop into almost any type of inner or outer retinal cell.
Retinoblastoma rb is a rare form of cancer that rapidly develops from the immature cells of a retina, the lightdetecting tissue of the eye. It must be suspected in case of a calcified retinal detachment in young children. Patients with nonheritable retinoblastoma have unilateral, unifocal disease and tend to be diagnosed at a later age. The sclera is the outer protective white coating of the eye. It originates in a part of the eye called the retina, a thin layer of nerve tissue that coats the back of the eye, allowing a person to see. If you were given a gross pathology of the eye, comment on the following. The possible link between these factors and retinoblastoma is still being studied. Retinoblastoma is an aggressive eye cancer of infancy and childhood. Retinoblastoma is a rare cancer that begins in the part of the eye called the retina. It is also a favourite topic of the examiners as they can test the candidates knowledge of genetics. American ophthalmology society first adopted the term retinoblastoma in 1926. Ppt retinoblastoma powerpoint presentation, free download id. In hereditary retinoblastoma, the initial hit is a germinal. Listing a study does not mean it has been evaluated by the u.
Heritable type seen in 40% germline mutation with autosomal dominance positive family history6% 85% are bl, 15% ul cases fall into this group. Retinoblastoma may metastasize via direct spread into the orbit, along the optic nerve into the brain, or into the subarachnoid space resulting in leptomeningeal metastases. Think of that menu as a roadmap for this complete guide. It receives light and converts the light into signals that travel down the optic nerve to the brain. The choroid is the middle layer and contains blood vessels that nourish the eye. Genetics of retinoblastoma childhood eye cancer trust. If you are not currently attending one of the retinoblastoma treatment centres in london or birmingham and wish to have genetic counselling, please contact your gp and ask to be referred to a local genetics counsellor who will make arrangements for you. Retinoblastoma is diagnosed in 47 percent of children who are referred with leukocoria to tertiary centers. The brain decodes the signals so that you can see the image.
Only about 5% of retinoblastoma patients have a family history of retinoblastoma. History first mentioned by petras pawius in amsterdam 1597. Eye for about 4 months, which was noticed by his family members. Retinoblastoma is a rare cancer, occurring in about one in 20,000 children.
It is the most common type of eye cancer in children. Ppt the retinoblastoma protein powerpoint presentation. Retinoblastoma may occur in association with other qsyndromes, which are typically characterized by growth delay, mental retardation, and minor facial anomalies. We use your linkedin profile and activity data to personalize ads and to show you more relevant ads.
Displaying powerpoint presentation on retinoblastoma ctlsfasu available to view or download. The tumor was described as filled with a substance similar to brain tissue. Nov 21, 20 retinoblastoma is the most common intraocular malignancy in children, with a reported incidence ranging from 1 in 15,000 to 1 in 18,000 live births. Retinoblastoma rb, a pediatric malignancy of the developing retina, is a prototypical genetic cancer and ird 8. Retinoblastoma 1 retinoblastoma this material will help you understand retinoblastoma, its causes, and how it may be treated. Presentation, evaluation, and diagnosis intechopen. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Chemoreduction most retinoblastomas are large at the time of presentation. Several types of therapies are used for retinoblastoma, and most children can be cured. Presentation white round oval dome shaped retinal masses attract retinal bvs very small. Retinoblastoma early detection, diagnosis, and staging american.
Retinoblastoma is a cancer that starts in the retina, the very back part of the eye. Find powerpoint presentations and slides using the power of, find free. This approach is often used in children with bilateral disease. Twothirds of retinoblastoma patients are diagnosed before they are 2 years old, and more than 90% are diagnosed before the. Verhoeff origin from undifferentiated retinal cells, named retinoblastoma in 1900s. This form of cancer develops in the retina, which is the specialized lightsensitive tissue at the back of the eye that detects light and color. It can also haematogenously metastasize preferentially to the bone, bone marrow and liver. Retinoblastoma exophytic growth pattern, beneath total retinal. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Sixty per cent of retinoblastoma cases involve one eye unilateral. When retinoblastoma affects both eyes, it is always a genetic condition. It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children. There is a high incidence of second primary tumors, suggesting a key role in the etiology of several other primary malignancies osteogenic sarcoma, pinealoma, leukemia, lymphoma, and ewing sarcoma.
Retinoblastoma typically presents as leukocoria in a child under the age of two years. Retinoblastoma is a rare cancer, and there are no widely recommended screening tests for retinoblastoma. Retinoblasts immature cells of the retina multiply during gestation and early life to make enough cells to create the retina. They also have a 50% chance of passing on the gene to a child. Retinoblastoma would occur by loss or inactivation of both alleles of this gene. Retinoblastoma definition retinoblastoma is a malignant tumor of the retina that occurs predominantly in young children. Here we outline the presentation, evaluation, and detailed diagnostic steps of any child. Indian studies have shown the incidence of the tumor in 1. Overview retinoblastoma is the most common primary intraocular malignancy of childhood and infancy with a cumulative life time incidence of 1 in 3,300 to 1 in 20,000 live births world wide. Retinoblastoma free download as powerpoint presentation. When there is no previous family history, the disease is called sporadic. Nonheritable retinoblastoma nonheritable also called nonhereditary, nonfamilial, sporadic, or somatic retinoblastoma results from somatic mutations ie, mutations that occur in nonreproductive cells in the rb1 gene. Heritable type seen in 40% germline mutation with autosomal dominance positive family history6%. Chemotherapy can be used to shrink tumors in the eye.
Survival and the chance of saving vision depend on severity of disease at presentation. Rarely, children can have other kinds of eye cancer, such as medulloepithelioma, which is described briefly below, or ocular eye melanoma. From basic information about cancer and its causes to indepth information on specific cancer types including risk factors, early detection, diagnosis, and treatment options youll find it here. Retinoblastoma was the first tumour to draw attention to. Retinoblastoma is the most common eye cancer that occurs in the retina of infants or young children. When treatment for retinoblastoma occurs, there are two main goals. Most often, retinoblastoma is unilateral, meaning it occurs only in 1 eye. Retinoblastoma is a lifethreatening disease and survival depends on how advanced the disease is at presentation. Retinoblastoma danafarberboston childrens cancer and. Retinoblastoma is the most common primary ocular tumour in childhood. Retinoblastoma treatment pdqpatient version national. Retinoblastoma definition of retinoblastoma by medical. Retinoblastoma associated iris neovascularization retinoblastoma associated iris neovascularization low and high power.
Since then, the evaluation and diagnosis of retinoblastoma has progressed significantly, thus. James wardrop scottish surgeon first recommended enucleation for saving lives 1809. Description the eye has three layers, the sclera, the choroid, and the retina. Scribd is the worlds largest social reading and publishing site. Discover everything scribd has to offer, including books and audiobooks from major publishers. Jan 16, 2008 created by alyse, emily and todd, students at the university of missouri columbia for genetic diseases, bio 2002, ws07. Free download and install prezi, presentation 2018 youtube. It is the most common primary intraocular malignancy of childhood which arises from.
A clump of retinoblastoma cells a clump of retinoblastoma cells located beneath the retinal pigment epithelium. The patient, named sakib, age 19 months coming from pirozpur on 23. Enlarge anatomy of the eye, showing the outside and. Retinoblastoma invasion of the optic nerve is noted. A child who has heritable retinoblastoma has an increased risk of trilateral. Oct 11, 2019 retinoblastoma will continue to grow until it is treated. Retinoblastoma rb is a malignant tumour of immature progenitor retinal cells. Ppt retinoblastoma powerpoint presentation free to view id. A free powerpoint ppt presentation displayed as a flash slide show on id. Relationship of regression pattern to recurrence in retinoblastoma. Usually diagnosed in children under the age of three 9, rb comprises an. Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers that occur within the first year of life. The retina is the layer in the back of the eye that acts like the film of the eye.
In these cases, the child inherits an abnormal gene from the affected parent. You will find some basic information about retinoblastoma and the parts of the body it may affect. This approach is often used in children with bilateral disease both eyes. Resources and details of recent publications about retinoblastoma. The retina is a thin layer of nerve tissue that coats the back of the eye and enables the eye to see. In children with retinoblastoma, the disease often affects only one eye. The children of a retinoblastoma survivor who has the hereditary form of retinoblastoma have a 45% chance of being affected 50% chance of inheriting and 90% chance of penetrance. In the hereditary setting this mutation is present in all germ line cells and can occur as early as during development. Childhood cancer caused by immature retinal cells in one or both eyes it is most common eye cancer in children 350 new cases in us each year and over 5000 cases worldwide common signs a white glow in the pupil of the eye in dim lighting crossed or misaligned eyes. Retinoblastoma treatment at danafarberboston childrens. Despite the genetic link, only 10% to 15% of children with retinoblastoma have a. Jane r mackinnon ophthalmologist inverness scotland, uk.
Retinoblastoma causes, risk factors, and prevention. In treatment for retinoblastoma childrens oncology group. Protocol for the study and treatment of participants with. We screened twentyone probands, twelve with bilateral. It arises in response to one of hundreds of mutations in the rb1 gene which is a. Table 1 lists the common presenting signs and symptoms of retinoblastoma. Retinoblastoma, the most common intraocular malignancy of childhood arises due to mutation of the retinoblastoma gene on chromosome q14. Find powerpoint presentations and slides using the power of, find free presentations research about retinoblastoma ppt. In the developed world, more than 90% of patients with retinoblastoma survive. Sometimes only one eye is affected unilateralretinoblastoma, but in about two fifths of patients both eyes have the disease bilateralretinoblastoma.
Despite the genetic link, only 10% to 15% of children with retinoblastoma have a family history of the disease. Children who have had bilateral retinoblastoma or the hereditary form of unilateral retinoblastoma are at increased risk for developing other types of cancer. To understand retinoblastoma, it helps to know how the parts of. There is a high risk of other malignancies, particularly osteogenic sarcoma and other germ cell tumors. Retinoblastoma is a tumor of the eye that typically occurs in children less than 6 years old the tumor starts in the retina, which is the back of the eye, behind the pupil. Retinoblastoma can run in families, and so it is important that parents, siblings, and offspring of a patient with retinoblastoma. Retinoblastoma is usually diagnosed without a biopsy. It is second only to uveal melanoma in the frequency of occurrence of malignant intraocular tumors. What is retinoblastoma what is retinoblastoma aggressive. Cancer begins when healthy cells change and grow out of control, forming a mass called a tumor. He stated that for retinoblastoma to develop, two chromosomal mutations are needed. Recently, there have been significant advances made in the molecular pathology and the management of the disease.
The retina is made of nerve tissue that lines the inside wall of the back of the eye. Mar 16, 2012 retinoblastoma, the most common intraocular malignancy of childhood arises due to mutation of the retinoblastoma gene on chromosome q14. Rating is available when the video has been rented. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that todays audiences expect. The clinical presentation of retinoblastoma depends on the stage of the disease. Retinoblastoma is a disease in which malignant cancer cells form in the tissues of the retina. Retinoblastoma is a tumour of the eye which develops in the cells of the retina, most patients are under 5 years old. Whether you or someone you love has cancer, knowing what to expect can help you cope. Through our retinoblastoma program, children with retinoblastoma receive treatment from a multidisciplinary team of oncologists, ophthalmologists, interventional radiologists, and other subspecialists with expertise in retinoblastoma. Though most children survive this cancer, they may lose their vision in the affected eyes or need to have the eye removed. Patients who carry the gene for the disease have an 80% chance of developing it. History peter pawius of amsterdam provided the first description of a tumor resembling retinoblastoma in 1597. The clinical signs can sometimes be subtle and are often missed, which could lead to delay in diagnosis, possibly loss of vision or even loss of life.
Last decade has witnessed better understanding of the genetics. Although rb is the most frequently encountered intraocular malignancy of childhood, it is a rare disease, occurring in 1 in 14,000 to 1 in 20,000 live births depending on the population. In addition to physical exam and imaging procedures, our genetic counselors from the pediatric cancer genetic risk program will meet with you and discuss the possibility of taking a blood sample and running tests to look for an abnormal retinoblastoma gene. The survival rate for diagnosis of extraocular symptoms is far lower than for intraocular disease. View and download powerpoint presentations on retinoblastoma ppt. Last decade has witnessed better understanding of the genetics of rb, the discovery of new tumor markers expressed by the rb tumors, the identification of. Because retinoblastoma may be hereditary, genetic testing is critical. Retinoblastoma occurs in heritable and nonheritable forms.
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