Abstract: Retinoblastoma is a rare childhood tumour of the eye that is characterised by the inability of developing retinal cells to proliferate in a controlled way. This is because the retinoblastoma protein (pRb) involved in cell cycle regulation is non-functional due to the diversity of allelic mutations which arise in the Rb1 gene. The consequent tumours show distinct growth patterns, which if left untreated could severely compromise vision and cause the development of secondary malignancies. Survival from retinoblastoma is correlated with the severity of the disease and the speed of intervention. Though radiation therapies were the principle method of treatment, chemotherapy and surgical intervention now form the primary treatment …show more content…
Leucocoria is often the first visible sign of retinoblastoma in 60% of cases [1]. The retinoblastoma tumour usually presents a distinct growth pattern; exophytic tumours extend into the subretinal space and progressively detach from the retina, causing a loss of central vision which induces symptoms of secondary strabismus in 20% of cases [1]. Failure to treat patients in early life will compromise vision, as seeding of the tumour within the eye disrupts fluid flow and increases the intraocular pressure. Secondary tumours in the optic nerve, central nervous system, lungs, liver and bone marrow are also common consequences following systemic metastasis of the tumour [1]. 40% of retinoblastoma cases are familial and are presented in children under 12 months, having a parent who also suffered from the disease and was successfully cured; alternatively, 60% of children suffer from a sporadic form of the disease showing symptoms closer to 24 months [1].The prevalence of retinoblastoma shows an equal frequency of occurrence in genders, different races and ethnicities [4]; however, survival rates are less balanced, being much lower at 70% in developing countries where there is a delay in intervention and administration of appropriate treatment [3]. Genetics of Retinoblastoma This tumour is inherited as an autosomal dominant trait as the child inherits one abnormal Rb1 gene, strongly predisposing the child to
People with this inherited disorder are likely to develop several kinds of tumors, including, in some cases, renal cell carcinoma.
Glioblastoma is the most common and aggressive form of malignant brain cancer in adults. On average, 8 of every 100,000 people in the U.S. are diagnosed with glioblastoma every year – representing approximately 2% of all cancers diagnosed [1]. Glioblastoma tumors form when astrocytes, star-shaped cells which support and protect the brain, re-enter the cell cycle and start to rapidly divide. Because the brain is supported by a large network of blood vessels, tumors grow quickly and are difficult to remove surgically. Present treatments for glioblastoma are limited to surgery, radiation therapy, and chemotherapy; however, despite these interventions tumors are likely to regrow. Consequently, typical survival time following glioblastoma diagnosis is less than 2 years.
You would expect for the normal lung cells to not have to divide as often because those cells are not exposed to many things through out the day. The normal stomach cells on the other hand would be expected to divide more because there is a lot of acidity in the stomach and therefore those cells are exposed to a lot of things on a daily basis. As for the ovaries you would expect that there would be a little more cell division because that is where new life is formed and all of the things that come along with that which means that there should be more division going on.
The response stage is when the body reaches its point of showing visible signs. Neuroblastoma in fetus’ can be detected though ultrasounds, and toddlers and young children have a greater chance of developing this disease. Because the disease forms in early development within nerve cells children have a greater chance of being effected by this cancer. Some of the visible signs that can lead to indications of this disease are often found in the abdominal area, inflammation in the stomach, darkening of the eyes, bruising on the bodies integumentary system, lack of appetite, nervous related signs like weakness, bodies numb feelings, vertigo, and inner bone pain. When the body begins to develop visual signs it is most likely that the cells have developed into tumors within the nerve tissues. The fact that the disease travels in nerve tissues it is hard for doctors to locate where the origination took place, and it is likely for the disease to go undetected in early stages of formation.
Retinoblastoma is a form of cancer found in young children, which develops from cells of the retina, the tissue of the eye that detects light. It arises from a mutation, either a point mutation or complete deletion of both of the Rb tumour suppressor genes within a cell, and can be a result of inherited or sporadic genetic default. Loss or defect of this region on chromosome 13 means cells can proliferate uncontrollably, leading to tumour formation that not only affects the eye but can spread to the brain or cause metastases in bone, soft tissue and the central nervous system via haematogenous spread. The invasive treatment of large tumours can cause major consequences for sufferers; for example enucleation leads to loss of vision and radiotherapy can increase a child’s chances of developing second metastases.
Therefore, before a patient could enter a clinical trial it would have to be determined whether his/her retinas were still viable. Using high resolution imaging technology called Optical Coherence Tomography; researchers studied the structure of the retina of patients with LCA and controls without disease to determine whether it was possible to ascertain
This paper focuses on Neuroblastoma in infants and toddlers. The title is Screening of Infants and Mortality Due to Neuroblastoma. The focus of this research paper and main hypothesis is to determine if early detection of neuroblastoma can decrease the mortality rate in infants (Woods et al., 2002). The research was conducted by the Quebec Neuroblastoma Screening Project (QNSP) from Quebec, Canada. The screening covered a five year period for infants born in Quebec from May 1, 1989 to April 30, 1994 (Woods et al., 2002).
The types of tumors that form and the way they are treated are different in children and adults. In adults, anaplastic astrocytomas and glioblastomas make up about one-third of brain tumors. The prognosis depends on many factors, including age, tumor size, tumor type, and where the tumor is in the central nervous system (CNS). From 2008-2012, the number of new cases of brain and other nervous system cancer was 6.4 per 100,000 men and women per year. The number of deaths was 4.3 per 100,000 men and women per year. The percent of people who survived brain cancer for five or more years from 2005-2011 was only 33.3%
During early stages of childhood, the retina begins to develop. The cells within our eyes are called retinoblast cells, which fill up the interior of the retina as well as develop new cells. It's not until the retina has been fully cultivated that the cells will stop dividing and will instead develop into mature cells known as retinal cells. The normal RB1 gene is a type of gene that almost every child is born with and its function is to help keep the cells from growing out of control within the eye. However, if there is a change in the gene, then the RB1 gene will stop functioning like it should. This becomes dependent on when and where the RB1 gene occurs; this mutation can be caused inherently
While CDK- cyclin complexes guide the cell through a defined sequence of events, the cells have evolved surveillance mechanisms ( or checkpoints) that are set at various stages of the cell cycle. These checkpoints can sense possible defects during DNA synthesis and chromosome segregation and halt the cell cycle through modulating of CDK-cyclin activity if the conditions for successful cell division are not met. This allows cells to properly repair those defects, thus preventing their transmission to the resulting daughter cells.
The inheritance arrangement of BRCA1 and BRCA2 is an autosomal dominant pattern, which defines that each offspring with one parent carrying mutated BRCA1 or BRCA2 gene would have 50% possibility of inheriting the germline mutation (University of Utah, “n.d”). Children who genetically obtained these genes would have increased in cancer development. Female carriers have a higher chance of transferring the genes to the next generation since the female is more susceptible to BRCA1 and BRCA2 mutated genes (University of Utah,
Neuroblastoma (NB) is a common type of cancer in the early stage of childhood life, more specifically; it is known to be a disease of infancy. It is closely associated with a defect in the neuroblast differentiation process, as it plays a role in developing tissues. One of the most challenging aspects of treating NB is the variation in response to therapy among patients. This is, in part, due to the heterogeneity of the disease, which presents phenotypic differences in patients ranging from spontaneous regression of NB with unnecessary therapy to successful therapy to a more aggressive form with unpredictable outcomes. Much of the focus on understanding reasons for treatment failure has been directed toward a subgroup within the aggressive
Retinal tumors are curable if diagnosed early enough. However, when dealing with the germline version of the disease, there is a high risk of developing a second primary tumor elsewhere. Usually, this second tumor is osteosarcoma. This is due to the fact that the pRB protein, encoded by RB1, functions directly as a coactivator in the transcription of osteoblast differentiation (OMIM). Single-stranded conformational polymorphism and DNA sequencing have been used to analyze retinoblastoma tumors. In most cases, a single point mutation is the cause of the first hit and
A German ophthalmilogist, Dr. Eugen von Hippel, described the hemangioblastomas in the eye in 1893–1911. Swedish pathologist, Dr. Arvid Lindau was the first one to described the hemangioblastomas
It is not fully clear how these mutations occur but genetic mutations can be inherited specifically from parents (roughly 40% of cases). About 1 out of 3 cases of retinoblastoma are caused by a mutation in the RB1 gene of the child’s body. But only about 1 in 4 is obtain from one of the child’s parents. In the rest, the gene mutation has not been inherited, but only occurs during early development in the womb. Children born with a mutation in the RB1 gene usually develop retinoblastoma in both eyes. Regardless of whether the mutated RB1 gene was inherited from a parent or not, because these children have the mutated gene in all of their cells, they have a 1 in 2 chance of eventually passing it on to their children. When one starts to develop these negative genetic mutations of the optic nerves, they may start to accumulate into a mass forming a tumor. Inherited mutations do not always mean cancer in the eye is inevitable, but usually once it progresses, retinoblastoma will occur in both eyes. Once established in the retina, these cancerous cells can invade further into the eye and nearby structures. Finally, if not treated quickly, retinoblastoma can also spread to several other areas of the body. Some signs that one has contracted retinoblastoma include a white color in the center of the pupil when a opthamologist shines light in the eye, eyes which look in opposite directions, and swelling or redness of the