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The pathology of AML involves abnormal proliferation and differentiation of a population of myeloid stem cells. Genetic mutations are identified in the majority of cases. A common genetic mutation identified in these cases are characterized as chromosomal translocations where information from one chromosome is exchanged to a non-homologous chromosome creating an unusual rearrangement of ...
In AML, Myeloblast do not mature but grow and multiply with regulation. The abnormal cells build up in the bone marrow and prevent the development of other healthy cells. [ 8 ] This type of arrest is still under study but in most cases, a gene inactivation or activation has occurred due to chromosome translocations or inversion. [ 2 ]
In the United States between 2011 and 2016, the median survival of a person with AML was 8.5 months, with the 5 year survival being 24%. [11] This declines with age, with the poorer prognosis being associated with an age greater than 65 years, and the poorest prognosis seen in those aged 75–84.
Abnormal and unfavorable karyotypes (e.g., loss of the long arm of chromosome 5 (5q-) and 7q-) and higher expression of the multidrug resistance glycoprotein (p170) are frequent. [5] In general, minimally differentiated acute myeloblastic leukemia has a poor prognosis. [6]
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome .
In humans, the gene RUNX1 is 260 kilobases (kb) in length, and is located on chromosome 21 (21q22.12). The gene can be transcribed from 2 alternative promoters, promoter 1 (distal) or promoter 2 (proximal).
This subtype is characterized by a translocation of a part of chromosome 8 to chromosome 21, written as t(8;21). [2] On both sides of the splice the DNA coded for different proteins, RUNX1 and ETO, These two sequences are then transcribed and translated into a single large protein, "M2 AML" which allows the cell to divide unchecked, leading to cancer.
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities.