Acute myeloid leukemia (AML) Essay

Acute myeloid leukemia (AML) Essay

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:

  • Which genetic mutations are commonly associated with the disease?
  • Why is the patient presenting with the specific symptoms described?
  • Discuss the pathophysiological mechanisms of the disease in detail. 
  • What do the blood test results tell us about the disease and disease progression?

 

Acute myeloid leukemia (AML) Essay

Genetic mutations commonly associated with the disease.

The genetic cancer acute myeloid leukemia (AML) starts in hematopoietic stem cells and has problems with the genome, epigenetics, microRNAs, and gene mutations that happen repeatedly. If not treated, AML can spread quickly and result to death. Transcription factor mutations, commonly seen in t (8;21) and inv (16), are among the prevalent genetic mutations in AML. Both interfere with normal myeloid development by disrupting the genes RUNX1 and CBFB (Singh et al., 2023).

The FLT3 gene is another common gene mutation in AML. In a healthy state, this gene controls the survival and reproduction of white blood cells. When it changes, it leads to uncontrolled cell proliferation that starts in the bone marrow and affects the blood. This is what causes AML. The tumor suppressor gene TP53 that controls the p53 gene, which is essential for repairing DNA damage. Mutations in this gene can lead to AML resulting in severe dysplasia and complicated karyotypes (Rogers, 2023) Acute myeloid leukemia (AML) Essay.

 Why patient presented with the specific symptoms described.

The case study shows symptoms caused by AML, a type of cancer that affects bone marrow blood cells and causes a drop in healthy white blood cells, red blood cells (RBC), and platelets (Rogers, 2023). Myeloblast cells overcrowd healthy cells, lowering white blood cells, red blood cells, and platelets and causing the patient’s fatigue and low RBCs. Anemia results from the affected oxygen-carrying capacity and hematocrit. Insufficient delivery of oxygen to the body can cause fatigue. Blood clotting factors are low in people with thrombocytopenia, which makes them more likely to bruise and bleed easily and causes unexplained bruising and nosebleeds (Singh et al., 2023).

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Pathophysiology mechanism of Acute Myelogenous leukemias.

Acute myeloid leukemia (AML) is a rapidly growing, aggressive, and highly heterogeneous disease affecting the bone marrow (Rogers et al., 2023). It is marked by too many myeloblasts that won’t divide into promyelocytes, which are the next step in becoming mature white blood cells, causing the bone marrow to be crowded. AML is a condition where leukemic cells take over the bone marrow. This condition reduces the production of normal blood cells, which leads to blood cell imbalance, causing anemia, fatigue, increased bleeding, and bruising. Additionally, a high number of abnormal white blood cells malfunction, weakening the immune response. The myeloblast takes up a significant amount of space and inhibits the replication of red blood cells (RBC) and platelets. As a result, the patient may experience symptoms such as anemia, fatigue, and an elevated risk of bleeding due to the insufficient clotting factors in their blood. The patient’s risk of infection increases due to the immature WBC (Vakiti et al., 2024).

What the blood test tells us about AML and Its progression.

Medical professionals use bone marrow biopsy and complete blood count (CBC) analysis to detect acute myeloid leukemia (AML). In this instance, the lab results only showed low platelet, WBC, and RBC counts; myeloblast levels were not disclosed. However, to better understand the AML prognosis and choose the best course of therapy, appropriate testing is crucial for AML patients (Leukemia & Lymphoma Society, n.d.).

References

Rogers, J. (2023). McCance & Huether’s pathophysiology (9th ed.). Elsevier – Evolve.

Leukemia & Lymphoma Society (n.d.) Acute Myeloid Leukemia (AML)

https://www.lls.org/leukemia/acute-myeloid-leukemia/diagnosisLinks to an external site.

Singh, H., Kumar, M., & Kanungo, H. (2023). Role of Gene Mutations in Acute Myeloid Leukemia: A Review Article. Global medical genetics, 10(2), 123–128. https://doi.org/10.1055/s-0043-1770768Links to an external site.

Vakiti A, Reynolds SB, Mewawalla P. Acute Myeloid Leukemia. (2024). In: StatPearls [Internet].  https://www.ncbi.nlm.nih.gov/books/NBK507875/

 

 

Acute myeloid leukemia (AML) Essay 2

Acute Myelogenous Leukemia

Leukemia in its own right is a serious disease which can often lead to death in many Americans. Thru this discussion we will be talking about one of the most common leukemias called Acute Myelogenous Leukemia or AML. Acute myelogenous leukemia (AML) is an immensely heterogeneous disease characterized by the clonal growth of promyelocytes or myeloblasts in bone marrow as well as in peripheral blood or tissue (Singh H, Kumar M, Kanungo H., 2023). As early symptoms and blood work such as a complete blood count can lean towards the diagnosing of AML, a bone marrow biopsy test can truly give a correct diagnosis. Understanding different genetic risk factors, genetic mutations and the pathophysiology of AML can sometimes assist in the overall treatment.

Genetic Mutations

Over the years, with the enhanced study of cells and DNA sequencing in relation to AML has showed the many genetic risk factors and its relationship. Many genetic risk factors have been identified, such as Klinefelter and Down syndromes, ataxia telangiectasia, Bloom syndrome, and telomeropathies such as Fanconi anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome; germline mutations in RUNX1, CEBPA, to name a few (Chennamadhavuni A, Lyengar V, Mukkamalla SKR, Shimanovsky A., 2023). Although, the genetic mutations in regard to DNA sequencing stands as a precursor to many individuals assuming the disease AML there are other factors along with the mutations that can increase the chances. One correlation of the disease and its underlying harm is related with smoking. Many studies have showed along with the genetic mutations along with smoking has seen to cause a perfect storm for AML.

Pathophysiological Mechanisms and Specific Symptoms

There are usually two types of mechanisms that can be looked at in determining the pathophysiology of AML. Leukemogenic mechanisms can be broadly classified into two types-cell-intrinsic and cell-extrinsic (Chakraborty S, Park CY., 2022). Cell intrinsic looks at the genetic side of the cell and the way it can mutate and take form in the cell causing the mutation to transform. Cell extrinsic tends to take form in a certain way that can cause the cell to survive and form with strength to inhabit causing the leukemia to lay havoc on the body. Some symptoms that are help diagnose AML can be anemia, leukocytosis, bruising due to low platelet count and fatigue. These are usually found during a complete blood count lab that looks at hemoglobin, platelets and white blood cell count which will all be low due to attack of the cell. Early recognition and diagnosing with a bone marrow biopsy are key to possible survival with treatment to fight the disease.

References:

Chakraborty S, Park CY. Pathogenic Mechanisms in Acute Myeloid Leukemia. Curr Treat Options Oncol. 2022     Nov;23(11):1522-1534. doi: 10.1007/s11864-022-01021-8. Epub 2022 Oct 3. PMID: 36190670.

Chennamadhavuni A, Lyengar V, Mukkamalla SKR, Shimanovsky A. Leukemia. 2023 Jan 17. In: StatPearls [Internet].        Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32809325.

Singh H, Kumar M, Kanungo H. Role of Gene Mutations in Acute Myeloid Leukemia: A Review Article. Glob Med Genet. 2023 Jun 23;10(2):123-128. doi: 10.1055/s-0043-1770768. PMID: 37360004; PMCID: PMC10289861

 

 

Acute myeloid leukemia (AML) Essay 3

1.  Which genetic mutations are commonly associated with the disease?

Several genetic mutations and translocations are associated with acute myelogenous leukemia (AML). According to the National Human Genome Research Institute (n.d.), chromosomal translocation is when a chromosome breaks and attaches itself to a different chromosome. Common translocation is found in CBFB-MYH11 and RUNx1-RUNx1T1, changing the normal development of blood cells (Swart & Heidenreich, 2021). Another common mutation is FLT3, where the body overproduces immature white blood cells (Rogers, 2022). Mutation of TP53 is also common in AML; this cell repairs DNA, but mutations inhibit that ability (Rogers, 2022).

 

2. Why is the patient presenting with the specific symptoms described?

Cancer cells attack the body, interfering with normal body systems and causing cellular destruction. Fatigue, bruising, and nosebleeds are all symptoms of AML. According to the patient’s labs, the red blood cell and platelet count are very low, with RBCs at 2.39 MIL/uL and platelets at 70 THOUS/uL. In AML, the process of creating red blood cells is disrupted, leading to severe anemia, which causes fatigue, bruising, and nosebleeds (Makkar et. al, 2023). Thrombocytopenia is a condition characterized by low platelet count and leads to a bleeding risk that can be both internal and external (U.S. Department of Health and Human Services, n.d.). The patient’s low platelets and low RBC explain the frequent fatigue, bruising, and nosebleeds. The patient is also experiencing fatigue as he is likely immunocompromised, with a low WBC count leading to increased fatigue Acute myeloid leukemia (AML) Essay.

 

3. Discuss the pathophysiological mechanisms of the disease in detail.

AML is a heterogeneous blood disease that is the result of the rapid development of undifferentiated myeloid precursors, also referred to as myeloblasts (Rogers, 2022). These blasts are immature white blood cells that rapidly develop in the bone marrow and take the place of healthy bone marrow, not involving B or T cells (Rogers, 2022). The immature cells interfere with the bone marrow’s ability to create red blood cells. Genetic and cellular mutations can lead to AML, as mutations lead to changes in the cell’s DNA.

 

4. What do the blood test results tell us about the disease and disease progression

The blood test results reveal that the patient has leukopenia as the white blood cells are very low. During the first phase of AML, the white blood count is often high, and there is a low blood count (Teixeira et al., 2023). The white blood count is low at 3.3, which may indicate disease advancement. The labs show a reduction in red blood cells and platelet production. The patient is likely immunocompromised and at risk for both infection and bleeding. The labs align with the diagnosis of AML, and the patient does not need a blood transfusion based on the current lab results. As the disease progresses, the patient may require a blood product transfusion.

 

References

Makkar, H., Majhi, R. K., Goel, H., Gupta, A. K., Chopra, A., Tanwar, P., & Seth, R. (2023). Acute myeloid leukemia: novel mutations and their clinical implications. American journal of blood research, 13(1), 12–27.

National Human Genome Research Institute. (n.d.). Translocation. Genome.gov. https://www.genome.gov/genetics-glossary/Translocation

Rogers, J. (2022). McCance & Huether’s Pathophysiology (9th ed.). Elsevier Health Sciences (US). https://mbsdirect.vitalsource.com/books/9780323789899Links to an external site.

Swart, L. E., & Heidenreich, O. (2021). The RUNX1/RUNX1T1 network: Translating insights into therapeutic options. Experimental Hematology, 94, 1–10. https://doi.org/10.1016/j.exphem.2020.11.005

Teixeira, A., Carreira, L., Abalde-Cela, S., Sampaio-Marques, B., Areias, A. C., Ludovico, P., & Diéguez, L. (2023). Current and emerging techniques for diagnosis and MRD detection in AML: A comprehensive narrative review. Cancers, 15(5), 1362. https://doi.org/10.3390/cancers15051362

Wachter, F., & Pikman, Y. (2024). Pathophysiology of acute myeloid leukemia. Acta Haematologica, 147(2), 229–246. https://doi.org/10.1159/000536152

U.S. Department of Health and Human Services. (n.d.). Thrombocytopenia. National Heart Lung and Blood Institute. https://www.nhlbi.nih.gov/health/thrombocytopenia

 

Acute myeloid leukemia (AML) Essay 4

Which genetic mutations are commonly associated with the disease?

The development and outcome of acute myelogenous leukemia (AML) are affected by certain genetic alterations. Among the most prevalent mutations is FLT3-ITD, which stands for FMS-like tyrosine kinase 3. This mutation causes the constitutive activation of signaling pathways that encourage the unchecked proliferation of leukemic cells. According to Döhner et al. (2017), this mutation is associated with a more severe course of the illness and worse survival rates. Nucleophosmin 1 (NPM1) mutations are also common; these mutations impact cellular stress responses and ribosomal biogenesis. A better prognosis is linked to NPM1 mutations when FLT3 mutations do not accompany them. Having a CEBPA (CCAAT/enhancer-binding protein alpha) mutation on both alleles improves survival rates and disrupts normal myeloid differentiation. In addition, chromosomal abnormalities including t(8;21), inv(16), and t(15;17) impact how AML is classified and treated. The molecular heterogeneity of AML is influenced by these genetic alterations, which also affect therapy responses and help doctors choose targeted medicines (Newell & Cook, 2022).

Why is the patient presenting with the specific symptoms described?

Fatigue, unexplained bruises, and frequent nosebleeds are symptoms of acute myeloid leukemia (AML), which disrupts normal bone marrow hematopoiesis. Leukocytosis, anemia, and thrombocytopenia result from an overproduction of leukemic blasts, which inhibits the normal formation of blood cells. Fatigue and pallor are symptoms of anemia, which is caused by a decrease in the number of red blood cells in the body. This is because tissues do not receive enough oxygen. Thrombocytopenia, a condition characterized by a low platelet count, makes it more difficult for the body to form clots, which in turn makes bruising and nosebleeds more common. The paradoxical increase in white blood cell count known as leukocytosis is made up of immature leukemic cells that aren’t ready to fight off infections just yet. According to Estey and Döhner (2020), these dysfunctional cells can exacerbate the patient’s symptoms by adding to systemic inflammation, which in turn increases metabolic stress Acute myeloid leukemia (AML) Essay.

Discuss the pathophysiological mechanisms of the disease in detail.

Mutations in hematopoietic stem cells cause myeloid progenitor cells to proliferate uncontrollably and fail to differentiate properly, which in turn causes AML to develop. Myeloid stem cells typically alter their cellular composition to produce various blood cell types, including RBCs, WBCs, and platelets. Nevertheless, acute myeloid leukemia (AML) develops when mutations in genes interrupt signaling pathways and transcription factors that control differentiation. This leads to an overabundance of undifferentiated leukemic blasts in the blood and bone marrow. Bone marrow failure results from this process because anemia, thrombocytopenia, and neutropenia are caused by the suppression of normal hematopoiesis by the excessive proliferation of blasts. Fever and loss of weight are additional symptoms of systemic inflammation caused by leukemic cells’ dysregulation of cytokines. The spleen, liver, or gums can all be infiltrated by leukemia in rare instances, resulting in hepatosplenomegaly or gum hypertrophy. The patient becomes more vulnerable to opportunistic infections as a result of the profound immunosuppression caused by this disease progression (De Kouchkovsky & Abdul-Hay, 2016).

What do the blood test results tell us about the disease and disease progression?

The patient’s blood test results reveal important information about the progression of their disease, including the hallmarks of AML—leukocytosis, anemia, and thrombocytopenia. Leukocytosis is a sign of an overabundance of cancer cells, which interfere with normal blood cell production and lead to immune system malfunction. Fatigue and oxygen shortage can result from anemia, which is a condition in which the bone marrow’s capacity to create red blood cells is impaired. Thrombocytopenia, which is a result of impaired platelet formation, explains why the patient bruises more easily and has episodes of prolonged bleeding. One diagnostic requirement for AML is an elevated percentage of blasts, which is often more than 20%, as shown in a bone marrow biopsy that confirms the diagnosis. Blast counts, cytogenetic findings, and molecular markers track the development of AML; these metrics inform prognosis and treatment decisions (Döhner et al., 2022). Patients with AML may be offered chemotherapy, targeted therapy, or hematopoietic stem cell transplantation.

References

De Kouchkovsky, I., & Abdul-Hay, M. (2016). Acute myeloid leukemia: A comprehensive review and 2016 update. Blood Cancer Journal, 6(7), e441. https://doi.org/10.1038/bcj.2016.50

Döhner, H., Weisdorf, D. J., & Bloomfield, C. D. (2017). Acute myeloid leukemia. New England Journal of Medicine, 377(12), 1135-1148. https://doi.org/10.1056/NEJMra1406184

Estey, E. H., & Döhner, H. (2020). Acute myeloid leukemia. The Lancet, 396(10260), 693-706. https://doi.org/10.1016/S0140-6736(20)31266-9

Newell, L. F., & Cook, R. J. (2022). Advances in acute myeloid leukemia. BMJ, 376, e064542. https://doi.org/10.1136/bmj-2021-064542 Acute myeloid leukemia (AML) Essay