Two other mutations – NPM1 and biallelic CEBPA are associated with improved outcomes, especially in people with normal cytogenetics and are used in current risk stratification algorithms.Researchers are investigating the clinical significance of c-KIT mutations in AML. These are prevalent, and potentially clinically relevant because of the availability of tyrosine kinase inhibitors, such as imatinib and sunitinib that can block the activity of c-KIT pharmacologically. It is expected that additional markers (e.g., RUNX1, ASXL1, and TP53) that have consistently been associated with an inferior outcome will soon be included in these recommendations. The prognostic importance of other mutated genes (e.g., DNMT3A, IDH1, IDH2) is less clear. Other prognostic factors
Elevated lactate dehydrogenase level were also associated with poorer outcomes. Use of tobacco is associated with a person having a poorer prognosis, and people who are married and live together have a better prognosis. People who are treated at place with a higher volume of AML have a better prognosis than those who are treated at those in the lowest quartile. As with most forms of cancer, performance status (i.e. the general physical condition and activity level of the person) plays a major role in prognosis as well. Epidemiology
AML is a relatively rare cancer. There were 19,950 new cases in the United States in 2016. In 2018, AML accounted for 1.2% of all cancer deaths in the United States.The incidence of AML increases with age and varies between countries.
Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which affects the development of the bones of the face as well as the heart and limbs. During embryo development, TFAP2B regulates the production of the protein AP-2β, a transcription factor that is active in the neural crest and helps regulate genes that control cell division and apoptosis. There are at least 10 mutations of this gene that have been identified in people presenting Char syndrome, which alters specific regions of the gene preventing production of the transcription factor and disrupting normal development of embryo structures. People with this condition present a very distinct facial appearance with flattened cheek bones, flat and broad tip nose, shortened distance between the nose and upper lip, triangular-shaped mouth with tick lips and strabismus. It is also characterized by a patent ductus arteriosus, which is the failure to close the ductus that connects the aorta and pulmonary artery during pre-birth life and may cause many symptoms including breathing issues and heart failure. Abnormalities of hand and finger development have also been reported in people with this condition, including short or absent fifth finger. Other abnormal findings include supernumerary nipples. These conditions often affect multiple members of a family and there are no reports of non-genetic factors that might be related with incidence of this syndrome. It was first described by Florence Char in 1978. == References ==