June 16, 2024

Leukemia Screening: Key Aspects of Blood Cancer Detection

What is leukemia?
Leukemia is a type of blood cancer that starts in the bone marrow and results in high numbers of abnormal white blood cells. These extra white blood cells crowd out normal blood cells. The four main types of leukemia are acute myeloid leukemia (AML), chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL).

Risk factors for leukemia
Some of the main risk factors for developing leukemia include:

Age – Risk increases with age, especially after 50 years. Infants and older adults are more likely to develop leukemia.

Genetics – Certain genetic syndromes, like Down syndrome or familial leukemia predispose individuals to leukemia. Having a close relative with leukemia also increases risk.

Previous chemotherapy or radiation therapy – Exposure to chemotherapy or radiation therapy for other cancers increases the risk of developing secondary or treatment-related leukemia years later.

Smoking – Smoking cigarettes is a known risk factor for AML in adults.

Benefits of early detection
Catching leukemia early offers important benefits for successful treatment and management. Detection at an early stage provides the best chance for:

– Curative treatment options – Early stage leukemias are more responsive to chemotherapy or other treatments and may potentially be cured. Late stage leukemias are harder to treat.

– Improved survival rates – 5-year survival rates for most types of leukemia are much higher if detected at an early localized stage versus late stage disease. Early detection often results in less intensive treatment as well.

– Better quality of life – Less extensive treatment means lower treatment side effects and impacts on quality of life compared to advanced disease requiring intensive therapies like transplant.

– Lower treatment costs – Early treatment is typically less intensive and expensive than later stages requiring months of aggressive chemotherapy, transplants or newer targeted therapies. Less treatment also means lower overall healthcare costs.

Screening recommendations
There is no consensus on routine population-wide leukemia screening as the disease is relatively rare. However, certain groups are recommended for increased screening based on their higher risk factors:

People with genetic syndromes – Those with known genetic leukemia predisposition syndromes should be assessed regularly starting in childhood or adolescence. Examples include Down syndrome, Fanconi anemia, Bloom syndrome.

Adults with first-degree relatives with leukemia – Siblings of leukemia patients or those with parents who had leukemia should discuss screening with their doctor, including complete blood counts annually starting at 35 years.

Survivors of other cancers – If treated with chemotherapy or radiation therapy, annual screening with complete blood counts is recommended starting 10 years after treatment and continuing throughout life.

People over 60 years – A complete blood count is reasonable for otherwise healthy seniors over 60 as a part of routine health check-ups, especially if other risk factors like smoking are present.

Signs and symptoms prompting testing
Even without clear screening guidelines, certain signs and symptoms should prompt evaluation by a doctor, including:

– Unexplained weight loss, fatigue or fever lasting more than two weeks

– Frequent or severe infections with bruising or bleeding easily

– Bone or joint pain with no injury

– Swollen lymph nodes, palpable spleen or liver below the rib cage

– Shortness of breath and cough due to possible extra fluids in the lungs

– Unusually frequent bruising or bleeding, including nosebleeds, heavy menstrual bleeding

– Paleness due to anemia from low red blood cell counts

Laboratory tests to diagnose leukemia
If signs/symptoms suggest possible leukemia, the doctor will recommend blood and bone marrow tests to confirm diagnosis. The main tests include:

Complete blood count (CBC) – Shows abnormal white and red blood cell levels and platelets suggestive of leukemia.

Peripheral blood smear exam – Looks at cell types and abnormalities under the microscope.

Bone marrow aspiration and biopsy – Material is removed from the bone marrow and examined microscopically to identify abnormal leukemia cells in the marrow. This is needed to definitively diagnose different types of leukemia.

Immunophenotyping – Uses markers on cell surfaces to identify specific cells and classify the exact type of leukemia (e.g. ALL vs. AML).

Cytogenetics – Examines chromosomes of cells for mutations like translocations that are hallmarks of certain leukemias.

Molecular testing – Analyzes DNA/RNA for gene mutations specific to leukemia subtypes to help guide prognostication and treatment.

Screening challenges and areas for improvement
While early detection is ideal, screening all populations presents challenges. Leukemia is uncommon in healthy individuals and nonspecific symptoms create difficulties in detecting early disease. Other issues include:

– Lack of guidelines on optimal screening intervals and tests
– Unable to screen for all subtypes – Rare mutations may require new screening innovations
– High false positive rates leading to unnecessary invasive follow-up testing
– Significant costs of population-wide screening
– Difficulty motivating healthy people without family history to screen

Ongoing research focuses on developing more cost-effective screening programs and novel blood or imaging biomarkers that could allow detection of minimal residual disease after treatment or detect relapses earlier. improved screening will help get more patients curative options.

In summary, while general population screening is not advised currently, those with high risk factors based on age, genetics or medical history should be vigilant about leukemia screening using recommended lab tests to catch any signs of trouble as early as possible. Further research aims to advance screening to detect more types of leukemia earlier.


  1. Source: Coherent Market Insights, Public sources, Desk research
  2. We have leveraged AI tools to mine information and compile it