CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
Alterations in Cellular Processes
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts. You must use current evidence-based resources (Primary and secondary) to support your initial posting and all responses to your colleagues.
resources
Be sure to review the Learning Resources before completing this activity.
Click the weekly resources link to access the resources.
To prepare:
By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
by day 3 of Week 1
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?
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
Which genetic mutations are commonly associated with the disease?
There are an abundant number of genes associated with Acute myelocytic leukemia (AML). There are four categories of driver mutations—transcription factor mutations, signaling protein mutations, epigenome mutations, and TP53, or genes that help regulate p53. FLT3, NPM1, and CEBPα are three specific gene mutations that can occur with AML that are well studied (Makkar et al., 2023).
Why is the patient presenting with the specific symptoms described?
The genetic alteration in the myeloid stem cell disrupts the production of specialized myelocytic blood cells, affecting the resulting blood components (Rogers, 2022). Myelocytic blood cell specializations are red blood cells, platelets, and myeloblast. Myeloblast cells are precursor cells that create granulocytes—white blood cells. A common characteristic of AML is that white blood cells are abundant in the blood, specifically called leukocytosis. The overabundance of blast cells crowd out the other cells in the blood. Lack of red blood cells or malformation of red blood cells causes anemia, and would be the cause of the fatigue. Lastly, the platelets are affected like the red blood cells, either crowded out by blast cells or mutated. Due to this process, thrombocytopenia occurs, and the body cannot clot the blood effectively—explaining the nose bleeds and bruising.
Discuss the pathophysiological mechanisms of the disease in detail.
AML occurs when one or more gene mutations disrupt the hematopoiesis pathway within the bone marrow (Rogers, 2022). An example of a transcription mutation is the gene RUNX1. RUNX1 is a protein used for many cellular processes, and mutations in this gene disrupt the pathway for hemopoiesis, which can cause malformations (Kellaway et al., 2022). Some RUNX1 mutation formations are more serious than others, but all give a high risk for AML if AML does not occur from the gene mutation alone. PTPN11 is a signaling protein that regulates cells, cell growth, and differentiation (Makkar et al., 2023). The next mutation category is epigenome mutations, TET2 is an example, and this protein’s primary function is to be a catalyst for 5-methylcytosine to 5-hydroxymethylcytosine (Makkar et al., 2023). The final category of mutations is TP53, or genes that help regulate p53. TP53 is a code for the P53 tumor suppressor protein, and disrupting either of these proteins would no longer allow the gene’s function (Rogers, 2022).
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All of the gene mutations that can occur in the many cellular pathways in the body lead to a disruption of cell function. There are a few different ways mutations can occur—chemotherapy or other toxins, Down syndrome or other hereditary conditions, and another cause is an underlying condition such as bone marrow disease (Rogers, 2022).
The cell mutations lead to an overproduction of immature myeloblasts that cannot undergo granulopoiesis or become granulocytes (Rogers, 2022). Overproduction of blast cells takes resources, energy, and space from the other cell production, causing leukocytosis, anemia, and thrombocytopenia.
What do the blood test results tell us about the disease and disease progression?
Lab values show that the progression of the patient’s AML is not far along; this disease progresses rapidly and is similar to all types of leukemia (Vakiti et al., 2024). The white blood cell count is low. At this stage, the patient has yet to have formed enough mast cells to fill the bone marrow and start leaking into the blood or the accompanying bone pain to indicate that the bone marrow is full of blast cells (Rogers, 2022). There is dysfunction in apoptosis with ALM, so rapid production with no apoptosis means the build-up of mast cells happens quickly. Once Mast cells start leaking out of the bone marrow, Leukopenia will shift, resulting in leukocytosis even though the WBCs cannot function like proper cells and undergo hematopoiesis.
However, the disease process is far enough to show anemia and thrombocytopenia. With no intervention, the disease would progress, leading to extreme neutropenia because there is very little functional WBC. Indicating an increased risk of a fatal infection (Rogers, 2022). If infection does not occur, the mast cells can build up high, causing hyperleukocytosis and leukemic cell infiltration (Döhner et al., 2022). Skin conditions can occur in all types of epithelial cells. Petechiae and ecchymosis, along with bruising or bleeding of any kind. Another progression that can occur, most likely with chemotherapy, is Tumor lysis syndrome (TLS) (Adeyinka et al., 2024). TLS occurs when calls burst, causing a dump of cell contents that cause damage to the kidneys.
References
Adeyinka, A., Kaur, A., & Bashir, K. (2024, October 5). Tumor Lysis syndrome. StatPearls – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK518985/Links to an external site.
Döhner, H., Wei, A. H., Appelbaum, F. R., Craddock, C., DiNardo, C. D., Dombret, H., Ebert, B. L., Fenaux, P., Godley, L. A., Hasserjian, R. P., Larson, R. A., Levine, R. L., Miyazaki, Y., Niederwieser, D., Ossenkoppele, G., Röllig, C., Sierra, J., Stein, E. M., Tallman, M. S., . . . Löwenberg, B. (2022). Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood, 140(12), 1345–1377. https://doi.org/10.1182/blood.2022016867
Kellaway, S. G., Coleman, D. J., Cockerill, P. N., Raghavan, M., & Bonifer, C. (2022). Molecular basis of hematological disease caused by inherited or acquired RUNX1 mutations. Experimental Hematology, 111, 1–12. https://doi.org/10.1016/j.exphem.2022.03.009Links to an external site.
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.
Rogers, J. (2022). McCance & Huether’s Pathophysiology (9th ed.). Elsevier Health Sciences (US). https://mbsdirect.vitalsource.com/books/9780323789899Links to an external site.
Vakiti, A., Reynolds, S. B., & Mewawalla, P. (2024, April 27). Acute myeloid leukemia. StatPearls – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK507875/ CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML).
First, what is acute myelogenous leukemia (AML)? AML is a type of cancer that begins in the bone marrow and affects the production of blood cells. This type of cancer changes the development and growth of immature white blood cells (myeloblasts) (Z, 2024). This results in the myeloblasts replacing normal blood cells. The white blood cells are not allowed to mature and becoming functioning white blood cells (Z, 2024). This can lead to abnormalities in a complete blood count. For example, the patient in this case study has a low white blood cell count of 3.3 THOUS/uL, a low platelet count of 70 THOUS/uL, a low hemoglobin count of 7.9g/dL, and a low red blood cell count of 2.39 MIL/uL. These blood test results would also explain why the patient feels fatigue, is having nosebleeds, and is bruising easily. The over production of immature myeloblast cells affect the production of platelets, red blood cells, and white blood cells (Z, 2024).
There are several different pathophysiological mechanisms that are associated with AML. One mechanism would be genetic mutations. The genetic mutations affect genes that aid in cell survival, growth, and differentiation (Alom, 2023). The common mutated genes found are CEBPa, RUNX1, and PML-RARa (DiNardo, 2016). Mutation is also found in the signal transduction pathway with active mutated genes FLT3, NRAS, and KIT. One of the most common genetic abnormalities in AML is FLT3 (DiNardo, 2016). Rapid growth in these active mutated genes is due to the dysregulated signaling pathways (DiNardo, 2016). Another genetic component found in AML is the rearrangement of chromosomes. The rearrangement of chromosomes results in the fusion of certain genes resulting in the formation of a tumor (Zhang, 2017). Lastly, what occurs in the bone marrow is the key component in AML. The interaction between stromal cells and leukemia cells plays a critical part in aiding in the resistance to therapy, survival, and their growth rate (DiNardo, 2016).
The patient with AML is dealing with nosebleeds, bruising and the feeling of fatigue. These symptoms can best be explained due to the leukemia cells affecting the production of healthy blood cells in the bone marrow (Alom, 2023). The bone marrow crowding and rapid growth of leukemia cells causes the push out of healthy blood cells such as platelets and red blood cells (DiNardo, 2016). Platelets play a key role in the body’s ability to clot blood. The patient with a low platelet count would experience nosebleeds and bruising due to the inability to have an adequate about of platelets to aid in blood clotting (DiNardo, 2016). Another, healthy blood cell produced in the bone marrow are red blood cells. Due to the accumulation of abnormal leukemia cells in the bone marrow, there is a lack of production of healthy red blood cells which can cause the patient to experience fatigue. This is due to the blood cells ability to care oxygen throughout the body (DiNardo, 2016).
Ultimately, AML is due to the mutations in stem cells which causes an overpopulating growth of abnormal cells that hinders the production of normal healthy cells (Alom, 2023). Consequently, several different complications result from these mutations such as anemia, infection, hypermetabolism, and hemorrhage (DiNardo, 2016). After reviewing the patients’ lab results, AML with a low white blood cell count can indicate that the disease state is active (Z, 2024). The leukemia cells are actively replacing healthy blood cells in the bone marrow (DiNardo, 2016). The progression of the disease is based on the growth rate of the leukemia cells and the bone marrows inability to produce platelets and healthy red blood cells (DiNardo, 2016). As the leukemia cells continue to grow, the blood will become thick and sticky. This final stage of the disease will increase the patients’ risk for clots, tissue damage, strokes and heart attacks (DiNardo, 2016).
References:
Alom, M. M., Faruqe, M. O., Molla, M. K. I., & Rahman, M. M. (2023). Exploring Prognostic Biomarkers of Acute Myeloid Leukemia to Determine Its Most Effective Drugs from the FDA-Approved List through Molecular Docking and Dynamic Simulation. BioMed Research International, 1–26. https://doi.org/10.1155/2023/1946703
DiNardo, C. D., & Cortes, J. E. (2016). Mutations in AML: prognostic and therapeutic implications. Hematology. American Society of Hematology. Education Program, 2016(1), 348–355. https://doi.org/10.1182/asheducation-2016.1.348Links to an external site.
Z, Hu., Y, Yang., J, Li., & Z, Hu. (2024). Genetic mutations and immune microenvironment: unveiling the connection to AML prognosis. Hematology (Amsterdam, Netherlands), 29(1), 2346965. https://doi.org/10.1080/16078454.2024.2346965Links to an external site.
Zhang, Haiguo., Zhang, Chengfang., Feng, Rui., Zhang, Haixia., Gao, Min., & Ye, Ling. Investigating the microRNA-mRNA regulatory network in acute myeloid leukemia. Oncology Letters, 14(4), 3981–3988. https://doi.org/10.3892/ol.2017.6686
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
Acute myeloid leukemia (AML) is the expansion of leukemic stem cells that have acquired self-renewal capacity. An aggregation of leukemic blasts in bone marrow, peripheral blood, and extramedullary tissue will result in AML. AML induces the accumulation of leukemic blasts in bone marrow, peripheral blood, and extramedullary tissues. (Koolivand et al., 2025). These changes cause the myeloid cells to make a lot of immature white blood cells called myeloblasts. The myeloblasts can build up in the bone marrow, crowding out healthy blood cells. (Mayo Clinic, 2025). When these aggressive immature myeloid cells expand in the bone marrow, the result is hematologic compromise. (Kurzer & Weinberg, 2023). Without enough healthy blood cells circulating through the patient’s bloodstream, patients experience low oxygen levels in the blood, easy bruising and bleeding, and frequent infections. (Mayo Clinic, 2025). The symptoms the patient is presenting with are fatigue, unexplained bruising, and frequent nose bleeds. The blood tests reveal leukocytosis, anemia, and thrombocytopenia. Frequent nose bleeds and unexplained bleeding are a result of thrombocytopenia, and fatigue is a result of anemia.
According to Kurzer & Weinberg (2023), the World Health Organization Classification of Hematopoietic Neoplasms and The International Consensus Classification System now define a variety of AML subsets based on mutation in the deriver genes such as NPM1, CEBPA, TP53, ASXL1, BCOR, EZH2, RUNX1, SRSF2, STAG2, U2AF1, and ZRZR2. Although several studies have been performed to detect genetic mutations responsible for AML pathogenesis, the treatment methods have not significantly changed in the past two decades, as most genetic defects are still unknown. (Koolivand et al., 2025). The primary variable used by physicians to assess the disease prognosis for AML is the karyotype. (Koolivand et al., 2025). Mean platelet volume can be considered a predictive or prognostic marker in patients with AML. (Albayrak, et al. 2021). The patient has a high mean platelet volume of 13.5 fl. Patients with higher mean platelet volumes at the time of diagnosis should be evaluated carefully. (Albayrak, et al. 2021).
References
Albayrak, M., et al. (2021). Mean platelet volume is a predictive and prognostic marker for patients with acute myeloid leukemia: a two-center retrospective analysis. Leukemia & Lymphoma. 62(11). Retrieved from http://doi.org/10.1080/10428194.2021.1929962
Koolivand, Z. et al. (2025). Inducing apoptosis in acute myeloid leukemia; mechanisms and limitations. Heliyon. 11. Retrieved from: https://doi.org/10.1016/j.heliyon.2024.e41355Links to an external site.
Kurzer, J. & Weinberg, O. (2023). Updates in molecular genetics of acute myeloid leukemia. Seminars in Diagnostic Pathology. 40(3). Retrieved from: http://doi.org/10.1053/j.semdp.2023.01.002Links to an external site.
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
Acute Myelogenous Leukemia
Genetic mutations disrupt normal gene processes due to multiple factors. One will examine specific symptoms, pathophysiological mechanisms, and laboratory results of genetic mutations in acute myelogenous leukemia.
Patient X
A 45-year-old male was recently diagnosed with acute myelogenous leukemia (AML). The patient’s symptoms, frequent nosebleeds, bruising, and fatigue, represent a dysfunction of the bone marrow’s production and maturation of myeloid cells. The laboratory results confirm the states of cytopenias (e.g., anemia, infections, and/or bleeding or bruising), which may also be associated with abnormal values like metabolic abnormalities, thrombocytopenia, and leukocytosis (Schiffer & Gurbuxani, 2023). One will further investigate the genetic mutation of AML.
Genetic Mutation
Hu, Yang, Li, and Hu (2024) expressed that the instability of haematopoietic stem/progenitor cells by stem cell mutations can hinder the differentiation of the bone marrow. Usually, these differentials are classified as blast cells and can be further categorized by precursors (Rogers, 2022). Specific cellular alterations like mutations of the nucleophosmin 1 (NPM1) gene represent the most frequent molecular alteration in acute myelogenous leukemia (AML), especially in patient’s with AML who have a normal karyotype (Kongta, Panyasit, Jansaento, & Duangmano, 2022). Now, one will discuss the presentation of symptoms.
Presentation of Symptoms and Laboratory Results
Common symptoms of AML are due to the clonal expansion of immature “blast cells,” which results in the inefficient circulation of erythropoiesis (Debnath & Nath, 2024). Unfortunately, the body can not maintain homeostasis because of the accumulation of leukemia-stimulating cells. One will notice that the patient’s lab results reflect a cellular quiescence, resulting in uneven distribution of cells, decreased WBC, red blood cells, increased mean platelet volume, and corpuscular hemoglobin.
Acute myeloid leukemia involves an acquired somatic mutation and epigenetic changes in the bone marrow microenvironment (Schiffer & Gurbuxani, 2023). The process incorporates the mutation of cellular regulation, proliferation, differentiation, and survival by altering gene encodes, rewriting transcription and signaling pathways of proteins, and changing cell cycles (growth and apoptosis). AML is a complex disease that causes myeloid blast corruption, which makes treatment difficult.
Conclusion
Genetic mutations disrupt the normal functions and pathways of the cellular process. Acute myeloid leukemia results in multiple disorders that contribute to the immature production of circulating cells.
References
Debnath, A., & Nath, S. (2024). Prognosis and treatment in acute myeloid leukemia: a comprehensive review. Egyptian Journal of Medical Human Genetics, 25(1), 1–15. https://doi.org/10.1186/s43042-024-00563-wLinks to an external site.
Hu Z, Yang Y, Li J, & Hu Z. (2024). Genetic mutations and immune microenvironment: unveiling the connection to AML prognosis. Hematology (Amsterdam, Netherlands), 29(1), 2346965. https://doi.org/10.1080/16078454.2024.2346965Links to an external site.
Kongta, R., Panyasit, N., Jansaento, W., & Duangmano, S. (2022). Development of E-ice-COLD-PCR assay combined with HRM analysis for Nucleophosmin1 gene mutation detection in acute myelogenous leukemia. PLoS ONE, 17(9), 1–15. https://doi.org/10.1371/journal.pone.0274034Links to an external site.
Rogers, J. (2022). McCance & Huether’s Pathophysiology (9th ed.). Elsevier Health Sciences (US). https://mbsdirect.vitalsource.com/books/9780323789899Links to an external site.
Schiffer, C. A., & Gurbuxani, S. (2023, December 19). Acute Myeloid Leukemia: Classification. (R. A. Larson & A. G. Rosmarin, Eds.). Retrieved February 26, 2025,.
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
AML Description
AML is characterized by the clonal proliferation of undifferentiated myeloid precursors, known as blasts, within the bone marrow compartment (Vakiti, et al., 2024). This disease can be genetic in nature or acquired due to changes in a person’s genetic structure caused by various environmental factors, smoking, radiation, therapy, and being immunocompromised.
Genetic Mutations Associated with Disease
Genetic abnormalities that characterize favorable risk disease include chromosomal translocations t(8;21)(q22;q22.1) or inv(16)(p13.1q22). Patients who lack FLT3-ITD (internal tandem duplication) mutations without mutated NPM1 or with CEBPA (bZIP in-frame) mutations are also categorized as favorable risk (Vakiti, et al., 2024).
Why is Patient Presenting with Specific Symptoms Described
Fatigue can be caused by anemia due to a low red blood cell count. There are not enough red blood cells to assist in carrying oxygen throughout the body, therefore causing fatigue. Platelets are not being formed due to the stem cells lack of differentiation thus causing frequent nose bleeds and bruising. Platelets maintain hemostasis by adhering to the vascular endothelium, aggregating with other platelets, and initiating the coagulation cascade, leading to the production of a fibrin mesh, which effectively prevents significant blood loss (Fountain, et al., 2023)
Pathophysiological Mechanisms of Disease
Transcription factor mutations (e.g., CEBPA) prevent normal myeloid cell maturation, causing an accumulation of undifferentiated blasts (Döhner et al., 2022). Leukemic blasts overpopulate the bone marrow, suppressing normal hematopoiesis and leading to anemia, neutropenia, and thrombocytopenia.
Blood Test Results and Disease Progression
This person’s white blood cell count is low, possibly due to bone marrow suppression does putting this person at risk for infectio . Additionally, the red blood cell count and hemoglobin is low, causing anemia. The platelet count is also low, thus causing thrombocytopenia. The disease progression is aggressive, due to risk for infection, anemia, and bleeding.
References
Döhner, H., Weisdorf, D. J., & Bloomfield, C. D. (2022). Acute myeloid leukemia. The New England Journal of Medicine, 386(12), 1082-1094. https://doi.org/10.1056/NEJMra2200579Links to an external site.
Fountain, J. H., & Lappin, S. L. (2023). Physiology, platelet. In StatPearls. StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK470328/Links to an external site.
Vakiti, A., Reynolds, S. B., & Mewawalla, P. (2024). Acute myeloid leukemia. In StatPearls. StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK507875/
CASE: A 45-year-old male presents to the clinic with fatigue, unexplained bruising, and frequent nosebleeds. Blood tests reveal leukocytosis, anemia, and thrombocytopenia. A bone marrow biopsy confirms the diagnosis of acute myelogenous leukemia (AML)
