Dr. Elliot Stieglitz is a St. Baldrick’s Fellow at the University of California, San Francisco. He’s researching ways to help kids with JMML who don’t respond to standard treatment. He explains Juvenile Myelomonocytic Leukemia (JMML) symptoms, treatment options, and how your support is moving research forward.
What is Juvenile Myelomonocytic Leukemia (JMML)?
Juvenile myelomonocytic leukemia (JMML) is a rare and aggressive form of blood cancer that primarily affects young children. Most cases are diagnosed around the age of 2, though some newborns can be diagnosed just days after birth. However, JMML is extremely rare, with only about 50 new cases reported annually in the United States.
Signs and Symptoms of JMML
JMML begins in the bone marrow, where abnormal leukemia cells develop and spread through the bloodstream. These cancer cells often invade organs, causing symptoms such as:
- Swollen abdomen: JMML cells can enlarge the spleen and liver, leading to abdominal swelling. This may slow weight gain in children.
- Breathing problems: Leukemia cells in the lungs may cause shortness of breath or difficulty breathing.
- Other symptoms: Fever, fatigue, unexplained bleeding, and skin rashes are also common in children with JMML.
How is Juvenile Myelomonocytic Leukemia Diagnosed?
Diagnosing JMML typically begins with a blood test to examine cells under a microscope. If JMML is suspected, doctors perform a bone marrow biopsy to rule out other types of leukemia.
In 90% of JMML cases, genetic mutations are found in the DNA of leukemia cells. Doctors use DNA sequencing to identify these mutations, which helps confirm the diagnosis.
Treatment Options for Juvenile Myelomonocytic Leukemia
The only curative treatment for JMML is a stem cell transplant, also known as a bone marrow transplant. But finding a donor match can take several months, so children are often given chemotherapy while waiting for a transplant.
In rare cases, a small percentage of JMML patients experience spontaneous remission without treatment, but it’s impossible to predict which children will fall into this category.
Advances in Research
Ongoing research is helping to improve outcomes for children with JMML. Key advancements include:
- Faster diagnosis: Researchers have identified genetic mutations that help diagnose JMML more quickly.
- Understanding risk factors: Studies show that 25% of JMML patients have syndromes like neurofibromatosis type 1 (NF1) or CBL syndrome, which increase the risk of developing JMML.
- Safer transplants: Advances in stem cell transplant procedures have made the treatment much safer in recent years.
However, despite these advancements, only about 50% of children with JMML survive beyond five years after diagnosis.
Clinical Trials for Juvenile Myelomonocytic Leukemia
For children who do not respond to standard treatments, clinical trials are exploring new therapies:
- Trametinib: An oral medication being tested in the United States that has shown promise in other cancers.
- Azacitidine: A drug currently in clinical trials in Europe for patients with aggressive JMML.
Join the Fight Against JMML
Your support can make a difference for children battling JMML. By funding research and supporting clinical trials, we can work toward better treatments and higher survival rates.
Together we can take childhood back from cancer. Fund lifesaving research today.
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Read about one of our Honored Kids who was diagnosed with Juvenile Myelomonocytic Leukemia:
Making Every Moment Count: Caemon’s Story
