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Leukemia is it genetic

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Acute myeloid leukemia (AML) is a diverse cancer that primarily impacts individuals aged 60 and above. The identification, prediction, and management of AML have evolved from a condition that was previously defined, categorized, and staged solely on histological features to one that is mainly classified by genetic, genomic, and molecular traits.

Individuals who have familial acute myeloid leukemia with mutated CEBPA experience a deficiency of white blood cells, which causes leukopenia and makes them more vulnerable to infections. Additionally, they may suffer from anemia due to a low count of red blood cells, leading to fatigue and weakness. Thrombocytopenia, a decrease in the number of platelets, can also occur, resulting in abnormal bleeding and easy bruising. Other possible symptoms of this disorder include weight loss and fever.

Most individuals with familial acute myeloid leukemia with mutated CEBPA have a mutation in both copies of the CEBPA gene. While one copy is inherited, the second mutation is acquired and only found in leukemia cells. This type of mutation, known as a somatic mutation, typically reduces the DNA-binding ability of CCAAT enhancer-binding protein alpha. However, the impact of this second mutation on the development of acute myeloid leukemia remains uncertain.

Important prognostic markers and potential therapeutic targets are represented by genetic mutations such as NPM1, FLT3, CEBPA, TET-2, c-KIT, DNMT3A, IDH, RUNX1, AXSL1, WT1, and Rasgene mutations.

The performance of cytogenetic studies on bone marrow is essential in patients with AML as it aids in the identification of the leukemia, determining the severity of the disease, response to treatment, and prognosis. A prime example is the detection of t(15;17), a translocation between chromosomes 15 and 17, which is linked to the diagnosis of APL, a subtype of AML that requires distinct treatment and monitoring compared to other subtypes.

In AML, FLT3 is frequently mutated and is found to be activated in approximately one-third of cases. About 25% of AML cases exhibit internal tandem duplications (ITDs) in the juxtamembrane domain of FLT3, while others have mutations in the activation loop of the gene. Patients with FLT3-ITD mutations generally have a worse prognosis, particularly in those with normal cytogenetics.

Although molecular markers like IDH1, IDH2, and DNMT3A have been proposed as indicators of risk and treatment response, their correlation with the risk of relapse or mortality remains unclear, and tests for these markers are not commonly accessible.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Cancer of the hematopoietic system and see a list of existing studies.

SNP polymorphisms related to the topic Cancer of the hematopoietic system:

rs7089424Variations in 7p12.2 and 10q21.2 affect the risk of childhood acute lymphoblastic leukaemia.
rs872071The IRF4 rs872071 polymorphism causes susceptibility to chronic lymphocytic leukaemia, Hodgkin's lymphoma, skin cancer and haematological malignancies.
rs4132601The IKZF1 rs4132601 polymorphism causes susceptibility to acute lymphoblastic leukaemia.
rs11978267The IKZF1 allele predisposes to childhood acute lymphoblastic leukaemia.
rs16754Single nucleotide polymorphism rs16754 of the WT1 gene is associated with acute myeloleukaemia in children.
rs1801282Peroxisome proliferator-activated receptor gamma gene variation on the progression of type 2 diabetes and obesity. Also higher risk of cardiovascular disease with a diet high in saturated fat.
rs2239633CEBPE polymorphism increases the risk of acute lymphoblastic leukaemia in children.
rs1800566Antioxidant defence enzyme gene: possible role in protection against carcinogenesis and toxicity by dietary antioxidant intake.
rs10821936A variant of the ARID5B gene is associated with the development of acute lymphoblastic leukaemia in Mexican children.
rs11083846A variant of genetic predisposition to chronic lymphocytic leukaemia.
rs73566550% higher risk of chronic lymphocytic leukaemia.
rs2395185
rs4129267
rs4537545
rs17505102
rs563507
rs674313
rs4987852
rs305061
rs2466035
rs13397985
rs2511714
rs31490
rs4406737
rs6858698
rs210134
rs9273012
rs7944004
rs1439287
rs4368253
rs1044873
rs17246404
rs11022157
rs757978
rs210142
rs1679013
rs9273363
rs909253
rs391023
rs11636802
rs391525
rs3769825
rs2456449
rs926070
rs9378805
rs2236256
rs898518
rs17483466
rs7176508
rs13401811
rs76428106
rs20541
rs35602083
rs2075726
rs1036935
rs2858870
rs9268528
rs9268542
rs6903608
rs204999
rs501764
rs2069757
rs2248462
rs27524
rs444929
rs7745098
rs1860661
rs1432295
rs11249433
rs796065343
rs1057519753
rs77375493
rs121913459
rs121913461
rs121913237
rs662463
rs924607
rs361525
rs2239704
rs6691170
rs1801274
rs10936599
rs3806624
rs2019960
rs61756766
rs3731217
rs1800682
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