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Recently we have been studying genetic disorders. We were given the opportunity to choose what genetic disorder that we wanted to learn more about by writing a paper about the disorder. The topic at hand is one that hits close to home to everyone at Milford High School. In a recent, disappointing, and discouraging loss, Milford lost one of its own members of its student body to this serious disorder. Rhabdomyosarcoma is a soft-tissue cancer that grows in the muscle cells of young adolescents.

The disorder is a disease in which malignant cells begin growing in muscle tissue. Rhabdomyosarcoma is a type of a sarcoma, which means a cancer of the bone, soft tissues, or connective tissue (e. g. , tendon or cartilage). Rhabdomyosarcoma begins in the soft tissues in a type of muscle called striated muscle. It can occur anywhere in the body. Rhabdomyosarcoma accounts for more than half of all diagnosed sarcomas in children and is much more likely in males than in females. Rhabdomyosarcoma has many symptoms that depend upon where the sarcoma is located upon the body.

If your sarcoma is locates in the neck or head areas, then you would be visibly able to see a lump or a discoloration of the skin with possibly swelling in the neck and adams apple region. Malignant cells that are located in the nose and sinus area would be marked by a difference in the voice, heavy nosebleeds, headaches, difficulty breathing and disruption of the swallowing process. Prostate seated sarcomas would leave traces of blood in the urine, extreme discomfort and possibly the hindering to the flow of urine, and in some cases, visible lumps.

Several tests can be run once symptoms are noticed to earmark the disease with a proper diagnosis. Some of the tests include; a biopsy of the tumor, X-rays, a CT scan, a skeletal survey, bone scans or bone marrow aspiration (fluid sample) and biopsy (tissue sample). Once diagnosed, the treatments begin to hinder any advancement the cancer would or could make. Possibly removing the cancer completely through surgery is a possibility, while others include chemotherapy, radiation treatment, and bone marrow transplantation.

Many times these treatments can be used concurrently with one another. In the Rhabdomyosarcoma (268210) cell line TE125. 5, Schwienbacher et. al (1988) found a G-to-A transition at nucleotide 688 that introduced an arginine in place of a cysteine in the product of the BWR1A gene. The change was present in a homozygous state, suggesting that loss of the normal allele occurred during the tumorigenic conversion. (John Hopkins University, 1998. ) A number sign (#) is used with this entry because of evidence that Rhabdomyosarcoma, which maps to 11p15. is caused by mutation in the Beckwith-Wiedemann region 1A gene.

Screening tests are only available through biopsies. This means that basically once symptoms arise, one would be able to go and get a prognosis as to whether or not they have this disease. Genetic disorders are a sad truth to everyday life. They plague the very genetic code by which we are made and function daily through. Rhabdomyosarcoma is a soft-tissue sarcoma that is very aggressive in attacking ones body. However, if caught soon enough, Rhabdomyosarcoma can be cured as well.

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