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Is Leukemia Genetic?

By Naheed Ali, MD, PhD, ScD | January 20, 2025

Leukemia is a type of blood cancer that affects the bone marrow and blood cells, leading to the production of abnormal cells. Unlike most cancers, leukemia doesn’t form solid tumors but is classified based on the number and type of abnormal blood cells present. The main types of leukemia are defined by the specific blood cells they affect, as well as genetic mutations (Chennamadhavuni et al. 2023). Understanding leukemia and its genetic aspect is crucial, as it helps to clarify whether this disease is passed down through families and how different risk factors come into play. 

Interestingly, leukemia is typically not staged like other cancers, which are often categorized based on tumor size or spread. Leukemia progresses in a different manner, classified more by blood count and mutations in leukemia cells. The exception to this is chronic lymphocytic leukemia (CLL), which uses the Rai, Binet, or CLL-IPI staging systems to assess severity based on factors like lymph node involvement and red blood cell counts. Given these nuances, many people ask: Is leukemia a genetic disorder? And more specifically, are certain types like acute myeloid leukemia (AML) or chronic lymphocytic leukemia (CLL) linked to genetic factors? 

To better understand this, it’s important to differentiate between genetic diseases in general and hereditary diseases specifically. 

Genetic vs. Hereditary 

When people wonder, "Is leukemia a genetic disease?", it’s important to first clarify the distinction between a genetic condition and a hereditary one. Both involve mutations in genes, but they are not necessarily the same in how they develop or are passed down. 

The Role of Genes 

Genes are the instructions our cells use to function and replicate. When genes mutate or change, the results can sometimes lead to diseases, including cancers like leukemia. Genetic mutations can occur in two main ways: they can either be inherited from a parent or acquired during a person’s lifetime due to environmental factors or errors in cell division (Brown 2002). 

Genetic Disease 

A genetic disease is any disease caused by mutations or abnormalities in DNA, whether those mutations are inherited from a parent or acquired after birth. Leukemia is considered a genetic disease because it is caused by mutations in genes that affect the behavior of cells, especially white blood cells (Leukemia 2022) (Tebbi 2021). These mutations can be the result of errors in cell production or external influences like chemical exposure or radiation. 

For instance, acute myeloid leukemia (AML) is the result of mutations in the DNA of blood cells, which can occur spontaneously. In this case, when people ask, "Is AML genetic?" the answer is yes, as it involves genetic mutations. However, these mutations are not typically inherited, which differentiates them from hereditary conditions (Tawana and Fitzgibbon 2021) (Padmakumar et al. 2021). 

Similarly, other types of leukemia, such as chronic lymphocytic leukemia (CLL) and acute lymphocytic leukemia (ALL), are also caused by mutations that arise over time rather than being passed down from one generation to the next (Montague and Pathak 2023)(Montague and Pathak 2023; Iacobucci and Mullighan 2017). These types of leukemia are linked to genetic abnormalities but are not hereditary. 

Hereditary Disease 

A hereditary disease is a specific type of genetic disease in which the mutated gene is passed down from parent to child. This occurs when the gene mutation is present in the sperm or egg cells, making it an inherited trait. While hereditary diseases like sickle cell anemia and hemophilia are well-known, hereditary cancers also exist. For instance, breast and ovarian cancers may run in families due to inherited gene mutations, such as those in the BRCA genes (Casaubon, Kashyap, and Regan 2023) (Ponti et al. 2023). 

When it comes to leukemia, mutations in certain genes within families can be passed down and increase the risk of developing leukemia. For example, familial platelet disorder caused by mutations in the RUNX1 gene can lead to a higher likelihood of developing acute myeloid leukemia (AML) (Deuitch et al. 2024). Similarly, mutations in the TP53 gene, which are involved in Li-Fraumeni syndrome, increase the risk of several cancers, including leukemia (Schneider et al. 2024)(Shin 2023). 

Genes Cause Hereditary Leukemia 

So, is leukemia a hereditary disease? In most cases, the answer is no. Leukemia is largely caused by genetic mutations acquired during a person’s lifetime. However, specific gene mutations can increase the likelihood of developing leukemia within families. While these cases of leukemia are not the norm, they demonstrate the important role that genetic factors can play in the disease. 

Risk Factors 

Several risk factors are associated with an increased risk of developing leukemia. These factors can be both genetic and environmental, impacting the likelihood of genetic mutations that lead to leukemia. 

  1. Previous Cancer Treatment: Individuals who have undergone chemotherapy or radiation therapy for other types of cancer are at an increased risk of developing leukemia later on. These treatments can damage healthy cells, leading to mutations that can result in leukemia (National Institute of Diabetes and Digestive and Kidney Diseases 2024). 
  2. Genetic Disorders: Certain genetic conditions, such as Down syndrome, are associated with a higher risk of developing leukemia, particularly acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML). Other cancers, like myelodysplastic syndrome (MDS), also raise the risk of leukemia (National Cancer Institute (US) 2024)(Dotson and Lebowicz 2022). 
  3. Exposure to Certain Chemicals: Exposure to carcinogens, such as benzene—a chemical found in gasoline and used in some industrial processes—has been linked to an increased risk of leukemia. Formaldehyde and other toxic chemicals may also contribute to this risk (Chennamadhavuni et al. 2023)(Samsel et al. 2024). 
  4. Smoking: Smoking is a well-known risk factor for several cancers, including acute myeloid leukemia (AML) (Deuitch et al. 2024)(Kumar et al. 2023). Cigarette smoke contains harmful substances that can lead to genetic mutations in bone marrow cells, increasing the risk of leukemia. 
  5. Family History of Leukemia: Certain genetic predispositions passed down through families may raise the likelihood of leukemia, though most cases are not linked to family history (National Cancer Institute (US) 2024b). 
  6. Environmental Factors: Beyond chemicals, exposure to high levels of radiation, such as in radiation therapy or from nuclear accidents, increases the risk of leukemia (Amjad, Chidharla, and Kasi 2023)(Gale 2022). 

These risk factors suggest that while genetic mutations are central to leukemia development, a combination of genetic predispositions and environmental factors plays a role. 

Risk Reduction Tips 

Though the exact causes of leukemia are not always clear, there are some steps people can take to potentially lower their risk. Understanding genetic risk factors and managing environmental exposure can be part of a proactive approach to reducing the likelihood of developing leukemia. 

  • Understand Genetic Risks: If you have a family history of leukemia or a known genetic predisposition, genetic counseling may help you assess your risk and monitor your health. For families with known mutations linked to hereditary cancers or leukemia, early detection can be key. 
  • Avoid Smoking: Quitting smoking is one of the most effective ways to reduce the risk of developing leukemia, particularly acute myeloid leukemia (AML). The harmful chemicals in cigarette smoke damage the DNA in bone marrow, leading to a higher chance of genetic mutations. 
  • Limit Exposure to Chemicals: Minimizing exposure to harmful chemicals like benzene and formaldehyde is crucial, particularly for those who work in industries where these substances are commonly used. Always follow safety guidelines and wear protective gear if you are in environments with toxic chemicals. 
  • Stay Informed About Your Health: Regular checkups and health screenings, especially if you have a family history of genetic conditions linked to leukemia, can help detect abnormalities early. Early detection improves treatment outcomes for many cancers, including leukemia. 

Conclusion 

In answering the question, "Is leukemia genetic?" we find that leukemia is indeed a genetic disease, but not a hereditary one. Genetic mutations, often acquired during a person’s lifetime, are the primary cause of leukemia. Understanding both genetic and environmental risk factors can help individuals take steps to reduce their risk or seek early intervention. 

By understanding the genetic and environmental risk factors, individuals can take steps to reduce their risk and seek early detection if they are at higher risk. While leukemia remains a challenging cancer to treat, advancements in research and treatment provide hope for those affected, helping them navigate through the unknown with the support of The Leukemia & Lymphoma Society (LLS). With ongoing efforts to uncover more about the genetic causes of leukemia, the future looks brighter for patients and families. 

About the author: Dr. Ali is a medical journalist and copywriter. 

 

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