Risk of Leukemia in Children with Down Syndrome

The Centers for Disease Control and Prevention (CDC) estimates that about 6,000 (or 1 in 700) babies are born with Down syndrome in the United States every year. Down syndrome is also recognized as the most prominent chromosomal condition in the United States.

For a while now, medical experts have recognized increased risks for certain conditions, such as hearing loss and heart problems, in children with Down syndrome.

Research shows that there’s also an increased risk of your child developing leukemia if they have Down syndrome. This includes both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).

Medical professionals think that certain genes may be linked, particularly acquired JAK2 mutations and CRLF2 alterations. The combination of JAK2 and CRLF2 is seen in a majority of children with Down syndrome who develop ALL.

Overall, children with Down syndrome have a higher chance of developing leukemia.

Researchers estimate that about 2.8 percent of children with Down syndrome develop leukemia. About 2.1 percent receive this cancer diagnosis by age 5.

It’s estimated that leukemia develops in 0.05 percent of children without Down syndrome.

ALL, the most common form of childhood leukemia, may be more prevalent in children with Down syndrome at any age. But cancer development tends to peak between ages 2 and 4.

AML is not as common in children overall, but this cancer is more prevalent in children with Down syndrome. This form of leukemia is more likely to develop during your child’s first year of life.

One large retrospective study (retrospective studies typically compare two groups of people: one group with the disease, and one group without the disease ) published in 2021 found that AML is more common in children with Down syndrome than previously thought.

Down syndrome may also be linked to a rare, leukemia-like condition during your child’s first month of life. Known as transient leukemia, this condition goes away on its own without treatment.

Symptoms of leukemia tend to be the same in children with or without Down syndrome. It’s especially important to be aware of these symptoms because children with Down syndrome have an increased risk of this cancer.

Signs of childhood leukemia may include:

• more frequent infections
• easy bleeding and bruising
• bleeding gums or nosebleeds
• pale skin
• cold sensitivity
• fatigue and weakness
• fever
• breathing difficulties, such as chronic cough or shortness of breath
• swollen lymph nodes
• abdominal swelling
• appetite loss

If your child continues to have infections, or if a current infection does not get better, it’s important to speak with their doctor.

It’s also important to reduce your child’s exposure to imaging tests that contain radiation as much as possible. These include X-rays and CT scans, which may further increase your child’s risk of leukemia. Ask your child’s doctor about ultrasounds or MRI scans instead.

Your child’s doctor can also do blood tests to help confirm childhood leukemia. Based on the results, they may refer your child to a pediatric oncologist, who specializes in cancer diagnoses and treatments.

Treatment for leukemia is the same for both children with and without Down syndrome. A doctor will make treatment recommendations based on your child’s subtype and severity of leukemia.

Options include:

• chemotherapy
• stem cell transplant (which is combined with chemotherapy)
• radiation therapy
• immunotherapy
• biologics (targeted therapies that change the way the cells behave or strengthen the immune system)

Children with leukemia typically have a high survival rate. About 98 percent of children with or without Down syndrome who have ALL achieve remission, with 90 percent surviving 5 years or longer.

Researchers also point to a higher relapse rate in children with Down syndrome.

While genetic mutations can vary between cancer cases, observational studies suggest a less favorable outlook for children with IKZF1 deletions. It’s estimated that about 35 percent of children with Down syndrome who develop ALL have these deletions.

AML is not as common as ALL in children, but the risk is higher if your child has Down syndrome. AML itself also has a lower outlook compared with ALL. But the outlook is still positive overall for children diagnosed before the age of 4.

Regardless of subtype, the outcomes for childhood leukemia are best when you seek early treatment for your child.

Children with Down syndrome are at a higher risk of developing leukemia. It’s important to be on the lookout for possible signs of leukemia in your child so that you can seek early diagnosis and treatment as appropriate.

Overall, children with leukemia have a high survival rate. The outlook is best for children who are treated early.