Mutation in Leukemia | Understanding Leukemia Types

There are more types of leukemia present. Not all leukemia are the same. Understanding the exact type of leukemia which will help doctors better predict each patient’s prognosis and that will help to make the plan for the best treatment.

There are 4 main types of leukemia, Depending on whether it is chronic or acute, and myeloid or lymphocytic they are Acute myeloid (or myelogenous) leukemia (AML), Chronic myeloid (or myelogenous) leukemia (CML), Acute lymphocytic (or lymphoblastic) leukemia (ALL) and Chronic lymphocytic leukemia (CLL) (Redaelli, Stephens, Laskin, Pashos & Botteman, 2003)

Acute or chronic depending on whether most of the abnormal cells are immature (for example stem cells) or mature (for example normal white blood cells). Chronic leukemia means The cells are partially mature but not fully matured. These white blood cells do not fight against infection but they look like normal cells.

Acute leukemia is defined as an overgrowth of immature white blood cells that make up more than 20% of the cells in the bone marrow or peripheral blood. Chronic leukemia is generally more difficult to cure than acute leukemia. Leukaemia is myeloid or lymphocytic depending on which bone marrow cells the cancer begins in. Myeloid leukemia starts in early myeloid cells which become white blood cells red blood cells, or platelet-making cells. Lymphocytic leukemia starts in cells that become lymphocytes. Lymphocytes are one of the types of white blood cells.

Acute Myeloid Leukemia (AML): Unraveling the Complexity

Acute myeloid leukemia, often referred to as AML, is a formidable adversary that affects a significant number of adults. Within the realm of leukemia, AML stands as the most common form among the adult population. However, behind this seemingly simple acronym lies a complex and multifaceted disease with far-reaching implications.

Understanding AML

AML is marked by an uncontrolled surge in myeloid cells in the bone marrow, disrupting their usual maturation process. This disturbance leads to hematopoietic insufficiency, compromising the production of essential blood components. AML, a formidable adversary, may manifest with or without elevated white blood cell counts, a condition termed leukocytosis.

The Struggle for Survival

One of the stark realities of AML is its impact on survival rates, which vary significantly with age. Individuals under the age of 20 have a 5-year survival rate of approximately 69%. However, as we advance in years, the odds grow less favorable, with a 5-year survival rate dropping to only 40% for those below the age of 65. These statistics underscore the urgency of early diagnosis and effective treatment strategies in the battle against AML.

Unraveling the Genetic Threads

AML isn’t a uniform disease; it exhibits remarkable diversity in its genetic underpinnings. One notable variant is AML with mutated CEBPA. This subtype arises from mutations in the CEBPA gene, which can be inherited and persist throughout a person’s lifetime. The CEBPA gene plays a crucial role in producing a transcription factor known as CCAAT enhancer-binding protein alpha. In individuals with mutated CEBPA, there is a deficiency in white blood cell production, rendering them more susceptible to infections.

Diagnosis and Treatment: Navigating the Journey

A pivotal step in addressing AML is a precise diagnosis, typically achieved through a bone marrow biopsy. This procedure provides crucial insights into the extent and nature of the disease, enabling healthcare providers to tailor treatment strategies accordingly.

The cornerstone of AML treatment is chemotherapy, which seeks to eliminate the rapidly dividing cancerous cells. However, in some cases, a more targeted approach may be adopted, involving the use of specific therapeutic drugs designed to impede the disease’s progression. The choice between these treatment modalities is guided by numerous factors, including the patient’s age, overall health, and the genetic characteristics of the leukemia.

Visualizing the Impact: A Glimpse into Normal vs. AML

To truly grasp the profound impact of AML, one can turn to a visual comparison between normal bone marrow and that afflicted by leukemia. The Leukemia & Lymphoma Society of Canada provides powerful imagery that vividly illustrates the stark contrast between the healthy and disease-ridden states of this vital tissue.

In the world of oncology, AML remains a formidable challenge. Yet, through relentless research, precise diagnosis, and tailored treatment regimens, strides are being made in the fight against this complex leukemia. As we delve deeper into the intricacies of AML, we uncover not only the scientific complexity but also the human resilience that drives us to push the boundaries of medical knowledge and innovation. In this collective effort, we find hope, determination, and a path toward a brighter future for those affected by AML.

Chronic Myeloid Leukemia (CML): A Triumph of Science and Hope

Nestled within the intricate tapestry of our bone marrow lies the formidable adversary known as Chronic Myeloid Leukemia, or CML. While CML may be a less common variant of leukemia, its impact on patients and the strides made in understanding and treating it have been nothing short of remarkable.

The Onset of CML

CML takes its origin in the very cradle of our blood-forming cells within the bone marrow. Unlike its acute counterparts, CML unfolds at a more gradual pace. Although it accounts for only approximately 15% of adult leukemia cases, its unique characteristics set it apart in the world of oncology.

The Beacon of Hope: Survival Rates

One beacon of hope amid the challenges of CML is the impressive 5-year survival rate, which stands at an astounding 90%. This remarkable statistic signifies that the majority of individuals diagnosed with CML are not only living but thriving five years after their initial diagnosis. Such an outcome underscores the critical role of early diagnosis and appropriate treatment.

Unraveling the Genetic Enigma

Behind the scenes of this leukemia’s unique journey lies a genetic anomaly of profound significance. The hallmark of CML is the translocation, or rearrangement, of chromosomes 9 and 22. This genetic phenomenon brings together a portion of the ABL1 gene from chromosome 9 and a fragment of the BCR gene from chromosome 22, resulting in the creation of the BCR-ABL1 fusion gene. This fusion gene acts as an orchestrator of chaos within the cellular realm, driving uncontrolled cell proliferation and obstructing the process of apoptosis.

It’s crucial to note that these genetic mutations are somatic, meaning they are not inherited from one’s parents. They arise spontaneously within the affected individual’s cells, emphasizing the importance of understanding and addressing genetic alterations in the context of cancer.

The Telltale Signs and Diagnosis

As with many medical conditions, CML leaves its mark through a constellation of symptoms that can include an enlarged spleen, weakness, bone pain, night sweats, weight loss, and fever. However, these symptoms are nonspecific and can be attributed to various health issues, highlighting the importance of comprehensive medical evaluation.

Diagnosing CML often begins with a simple yet powerful tool: the complete blood count (CBC) test. This routine blood test provides valuable insights into the composition of blood, potentially revealing elevated white blood cell counts, a hallmark of CML.

Stepping into the Future: Treatment Advances

In the journey to combat CML, the landscape of treatment has witnessed remarkable advancements. Among these milestones stands Scemblix, the first FDA-approved treatment tailored specifically for CML. This innovative therapy shines as a beacon of hope for those battling CML, disrupting the harmful BCR-ABL1 fusion gene.

As we delve deeper into the realm of CML, we uncover scientific intricacies and enduring spirits, with remarkable survival rates. CML, once formidable, now embodies the power of medical advancement and the enduring spirit of those confronting it. With each passing year, we draw closer to a future where CML is met with greater confidence and optimism.

Acute lymphocytic leukemia (ALL)

Acute lymphocytic leukemia (ALL) is most common in children the 5-year survival rate is 68.8% in children 90% in adults 30-40%. in adults, the Philadelphia chromosome is The most common translocation in ALL which happens when chromosomes 9 and 22 swap. Also, chromosomes 4 and 11 and 8 and 14 are involved in ALL. Blood tests can diagnose these ALLs and the primary treatment for acute lymphoblastic leukemia (ALL) is chemotherapy

Chronic lymphocytic leukemia (CLL)

Another type of leukemia is chronic lymphocytic leukemia (CLL), which has a higher survival rate than other types of leukemia. 55-year survival rate is 83% and above age 75 less than 70%. The results of individuals with CLL are complicated by specific genetic mutations and the absence or presence of ZAP70, IGHV, and CD38 cell markers (Higuera, 2022).

References

Redaelli, A., Stephens, J., Laskin, B., Pashos, C., & Botteman, M. (2003). The burden and outcomes associated with four leukemias: AML, ALL, CLL and CML. Expert Review Of Anticancer Therapy, 3(3), 311-329. doi: 10.1586/14737140.3.3.311

Lowenberg, B., Downing, J., & Burnett, A. (1999). Acute Myeloid Leukemia. New England Journal Of Medicine, 341(14), 1051-1062. doi: 10.1056/nejm199909303411407

Higuera, V. (2022). Chronic Lymphocytic Leukemia: Survival Rates and Outlook.