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Osteosarcoma Essay

1535 words - 7 pages

Though we do not know the exact cause of most osteosarcomas, it is known that the development of malignant tumors has to do with the mutation of tumor-suppressor genes, p53 or RB1 (Zheng et al.). Those DNA mutations can either be inherited or may be acquired ( If the DNA mutation is inherited, then the mutation is a germline mutation. A person who inherits this type of mutation will have such in all DNA, and pass it on to their offspring. Even with a hereditary mutation, it does not guarantee the occurrence of cancer; it simply means that they are at higher risk. If the mutation is not inherited, it may be acquired, through environmental circumstances or spontaneously. ...view middle of the document...

). Both of these studies suggest that rapid bone growth is linked to onset of osteosarcoma (Mirabello et al.).
There are several other heritable risk factors of osteosarcoma, including several syndromes such as Li-Fraumeni Syndrome. Li-Fraumeni Syndrome causes a “germline mutation in the tumor suppressor gene p53” (Yoshida et al.). Li-Fraumeni Syndrome, then, puts an individual at higher risk for developing multiple types of cancer, not just osteosarcoma. Mutations in the retinoblastoma, RB1, tumor suppressor gene would be another heritable risk factor ( Though one case study reviews that of the 79 cases of retinoblastoma followed by osteosarcoma reported up until 1997, at least 15 of them were questionable (Potenpan et al.). In other words, this progressive occurrence is extremely rare. Rothmund-Thomson is another syndrome that may lead to an increased risk in developing osteosarcoma. Rothmund-Thompson syndrome is an autosomal recessive syndrome that displays itself through “facial rash…short stature…skeletal abnormalities, radial ray defects, premature aging and a predisposition to osteosarcoma” (Larizza et al.). This is confirmed in a study in which two-thirds of Rothmund-Thomson Syndrome patients had mutations “associated with risk of osteosarcoma” (Wang et al.). Two similar syndromes, Bloom’s and Werner, may also increase risk of osteosarcoma ( “Bloom’s Syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size” (German). These two “disorders [both] manifest abnormal growth, premature aging, and predisposition to site-specific malignancies” (Lindor et al.). One last condition with a possible affect on risk of osteosarcoma is Paget disease of the bone ( One research article says it this way: “Whereas the epidemiology of pagetic osteosarcomas may be debated, the associated with Paget’s disease is not” (Hansen et al.). “Bone sarcomas (mostly osteosarcoma) develop in about 1% of people with Paget disease, usually when many bones are affected” ( So, though many of these syndromes or diseases may be extremely rare, they seem to all have a commonality that links them with osteosarcoma.
Other heritable factors affecting osteosarcoma may include age, gender, and/or race/ethinicity ( Regarding age, one study puts it, “the bimodal age – incidence curve reflecting peak rates occurring both in adolescence and in older age suggests two separate aetiologies” (Troisi et al.).
An acquired risk factor of osteosarcoma is radiation exposure to bones ( Radiation may cause a somatic gene mutation. One article claims that 5.5% of all osteosarcomas are radiation-induced, and are more aggressive (Yamada et al.). Radiation therapy, perhaps for another cancer, can actually lead to a higher risk of osteosarcoma developing later ( This seems to be common knowledge now, as we take great care in avoiding radiation. “There are few...

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