Philadelphia Chromosome And Leukemia Essay

Leukemia is a malignant disease or cancer of the bone marrow and blood. It is characterized by the uncontrolled accumulation of blood cells (American Cancer Society, 216). Leukemia is divided into four categories: myelogenous or lymphocytic, each of which can be acute or chronic (Medicine Net, 2015). The true cause is unknown but studies have shown things like exposure to high-energy radiation and harmful lifestyle choices such as drinking and smoking increase your

My gene is located at chromosome 9 on the long (q) arm at position 34, 9q34.

Karyotype sheet #2 shows a set of chromosomes from a female with a significant mutation. The mutation is a translocation where the bottom part of chromosome 22 is broken off and attached to the bottom part of chromosome 9. This mutation causes a type of cancer called Chronic Myeloid Leukemia. The idea that the shortened chromosome 22 causes this disease was first indicated in Philadelphia, so the short chromosome 22 is called the “Philadelphia Chromosome”. Chronic Myeloid Leukemia

According to the American Cancer Society (2013) stated, “Leukemia is a cancer that starts in early blood-forming cells” (American Cancer Society, 2013). “Most often, leukemia is a cancer of the white blood cells, but some leukemias start in other blood cell types” (American Cancer Society, 2013). “Any of the cells from the bone marrow can turn into a leukemia cell” (American Cancer Society, 2013). According to the American Cancer Society (2013) stated, “Once this change takes place, the leukemia cells don’t go through the normal process of maturing” (American Cancer Society, 2013). There are changes that leukemia cells can quickly reproduce themselves and not die when they are suppose too (American Cancer Society, 2013). “They survive and build up in the bone marrow, crowding out normal cells” (American Cancer Society, 2013). “In most cases, the leukemia cells spill into the bloodstream fairly quickly” (American Cancer Society, 2013). “Almost all childhood leukemia is acute leukemias” (American Cancer Society, 2013).

The book The Philadelphia Chromosome by Jessica Wapner follows the story of how a fatal disease called Chronic Myeloid Leukemia became one of the first targets of kinase inhibitors for targeted cancer therapies. Chronic Myeloid Leukemia (CML) affects only a small number of people (an estimated 8,500 diagnoses this year), but was until recently considered a fatal disease. Gleevec, a drug created by Novartis (mostly) that targeted the BCR/ABL protein in CML patients. This protein causes a tyrosine kinase to uncontrollably phosphorylate myeloid cells in bone marrow. The BCR/ABL protein is caused by a gene mutation known as The Philadelphia Chromosome, which is an abnormality in chromosome 22.

Repeat instability is mediated by DNA replication, repair, recombination and transcription in specific tissues and stages of development and cell growth.

These cancer cells lose control of the growth and it begins to spread around the body, or in this case, in blood forming tissues such as bone marrow, spleen, and lymph nodes. Therefore, homeostasis is not maintained as the growth of cancerous cells is uncontrollable. In the diagram, the gene ABL1 goes through a small mutation which causes the disastrous disease of cancer. Mutations allow rapid growth, cannot stop uncontrolled cell growth, and make errors when repairing DNA mistakes. Specifically, in this case, there is a change in the amino acid protein which is why Tyr changes into IIe. In the first picture below, we can see that in a normal DNA strand, the nitrogenous base adenine and thymine go together and cytosine and guanine match

ALL and CML are very different from each other because they have different risk factors, symptoms, and treatments. First of all, ALL is a type of leukemia that begins from the bone marrow and make it produces white blood cells, and it could be mortal in few months if not treated. In addition, these leukemia cells invade the blood cells very quickly. In contrast, CLL is slow-growing cancer that starts in bone marrow, and it affects the red, white, and platelets blood cells. Moreover, people who have CML do not have any symptoms for at least a few years. Second, the risk factors of ALL are radiation exposure, certain chemical exposures, and inherited syndromes like Down’s syndrome and Ataxia-telangiectasia. On the other hand, CML risk factors

Klinefelter Syndrome is the presence of an extra X chromosome in the male. Klinefelter disease is the most common chromosomal malfunction. Klinefelter Syndrome Is a fault in cell division when the reproductive cell of a parent is being designed. (Kids Health 2015) Klinefelter Syndrome occurs in 1 out of 1000 males. (Dennis O’Neal, 2013)

Emily Whitehead is a 6 year old girl with leukemia and she is dying. Emily was treated by Dr. David Porter and Dr. Carl June who’ve cured a daring new procedure by interjecting her with HIV. And when she woke up the next day she was completely cancer free. Of course HIV and cancer is a bad thing but HIV can also be a good thing because it can help save a cancer patient life, help them live a healthy lifestyle, and kill cancerous cells.

After, the doctor gives further treatments to help prevent the return of the signs and symptoms of the disease after an improvement. Most of patient with acute forms of leukemia can be cured today. It is one of the most curable forms of cancer. Chronic leukemia is detected through a routine blood test before symptoms appear. With this people may not need treatment right away if they are not having symptoms yet, the doctors monitor the disease until treatment is needed. Most of the time it cannot be cured, but it can be controlled.

Chronic Myeloid Leukaemia is a hematopoietic proliferative disorder associated with a specific defect in the gene (Ciesla 2007, pp. 189). The gene defect is caused due to the translocation of the genetic material between chromosome 9 and chromosome 22 (t9: 22). The translocation prompts to the development of a hybrid gene BCR-ALB in the Philadelphia chromosome, or Ph1. Therefore, this fusion gene mutation affects the maturation and differentiation of the haematopoietic cells (Ciesla 2007, pp. 189). However the introduction of a BCR-ALB particular tyrosine kinase inhibitor, Imatinib has significantly enhanced the survival rate of the patient with chronic myeloid leukaemia (Hochhaus, et al.2015). This essay will briefly describe the diagnosis, treatment and future strategies for chronic myeloid leukaemia.

MYC oncoprotein is a transcriptional factor that activates genes involved in cell proliferation and growth. Thus translocations or other gene rearrangements involving MYC may promote cell proliferation and is classically associated with high-grade B-cell lymphomas such as Burkitt lymphoma. MYC rearrangements however, are not unique to Burkitt lymphoma and have been observed in other B-cell lymphoproliferative disorders, including subsets of diffuse large B-cell lymphoma (DLBCL), transformed follicular lymphoma, blastoid mantle cell lymphoma, plasma cell myeloma, and lymphoblastic lymphoma. Aberrations in MYC have been reported rarely in de novo B-cell prolymphocytic leukemia (B-PLL). In CLL, aberrations of MYC are a very rare (<1 % of CLL)

     Another option is Bone Marrow Transplantation. In many cases of acute leukemia and cml, doctors give high doses of chemotherapy and radiation, when indicated to destroy all of the patient’s bone marrow, since it is not functioning correctly. Then they give the patient healthy bone marrow from the donor, whose tissue it the same or almost the same as theirs; ideally an identical twin or a sibling. They also might give bone marrow that was removed from the patient earlier and especially treated to remove any leukemia cells. Patients who have a bone marrow transplant bone marrow begins to produce enough

Klinefelter syndrome, also known as “47, XXY”, is a chromosomal disorder caused by nondisjunction. Nondisjunction occurs when chromosomes do not separate fully during meiosis. This results in sex cells with the wrong number of chromosomes. A zygote with two X chromosomes and one Y chromosome forms when a normal sex cell, which is a sperm or egg cell, combines with a sex cell which has an extra X chromosome. The extra X chromosome will show up in the karyotype of an infected individual. Individuals with Klinefelter syndrome have two X chromosomes and one Y chromosome, giving them a total of 47 chromosomes, as opposed to the normal 46. Unaffected males have one X and one Y chromosome, and females have two X chromosomes. Even though individuals