Is Chronic myelogenous leukemia (CML) hereditary?

Chronic myelogenous leukemia (CML) is not a hereditary condition, meaning it is not passed down from parents to children through germline DNA. While Chronic myelogenous leukemia (CML) is a genetic disease because it involves an acquired mutation in the bone marrow cells, these changes occur spontaneously after birth and are not inherited.

Is Chronic myelogenous leukemia (CML) hereditary?

There is a critical distinction between a "genetic" disease and a "hereditary" disease. Chronic myelogenous leukemia (CML) is genetic because it is caused by a specific chromosomal abnormality called the Philadelphia chromosome. This occurs when segments of chromosome 9 and chromosome 22 swap places, creating the BCR-ABL1 fusion gene. Because this mutation occurs in somatic cells (blood-forming cells) rather than germ cells (sperm or egg), it cannot be passed to offspring.

How does the mutation occur in patients?

The development of Chronic myelogenous leukemia (CML) is almost always the result of a de novo or spontaneous mutation. This means the genetic alteration happens randomly during a person's lifetime. There is no known way to prevent this mutation, and it is not linked to family history or lifestyle choices. Because the condition is not hereditary, family members of those with Chronic myelogenous leukemia (CML) are not at an increased risk of developing the disease.

Is genetic testing required for diagnosis?

Genetic testing is essential for confirming a diagnosis of Chronic myelogenous leukemia (CML), but it is performed on blood or bone marrow samples to identify the BCR-ABL1 fusion, not on the patient's constitutional (inherited) DNA. Common diagnostic tests include:

• Cytogenetic analysis: Used to visualize the Philadelphia chromosome under a microscope.


• Fluorescence in situ hybridization (FISH): A molecular technique to detect the BCR-ABL1 fusion gene.


• Quantitative Polymerase Chain Reaction (qPCR): Used to measure the level of BCR-ABL1 transcripts, which helps monitor response to treatment.

Next steps

• Consult with a hematologist-oncologist to discuss your specific molecular profile and treatment options.


• Join our community of 287 people with Chronic myelogenous leukemia (CML) on DiseaseMaps.org to share experiences and find support.


• Speak with your care team about how modern targeted therapies (TKIs) effectively manage the genetic drivers of this condition.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment.

References

• National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD)


• Orphanet: Chronic Myeloid Leukemia


• OMIM (Online Mendelian Inheritance in Man): Entry #608232


• American Cancer Society: What Causes Chronic Myeloid Leukemia?