Infant With Juvenile Myelomonocytic Leukemia Successfully Treated With Liver Cancer Drug

According to a story from Science Daily, the University of California San Francisco’s Benioff Children’s Hospitals have successfully treated an infant with juvenile myelomonocytic leukemia. The drug used for treatment is called sorafenib, which is typically used to treat adult patients with liver cancer. The risky decision to try the drug was made following a critical discovery in which a distinctive genetic mutation—in which a pair of genes were fused together instead of located on different chromosomes—was identified in the child.

About Juvenile Myelomonocytic Leukemia

Juvenile myelomonocytic leukemia (JMML) is a chronic blood cancer that primarily affects young children. Most patients are four years old or younger. Most patients carry some sort of genetic abnormality in their cancer cells that typically affect the RAS genes or the PTPN11 gene. Neurofibromatosis type 1 and Noonan syndrome are also associated with juvenile myelomonocytic leukemia. Symptoms of the disease include low platelet and red blood cell count, poor weight gain, coughing, elevated monocyte count and white blood cell count, enlargement of the liver, spleen, and lymph nodes, rash, bleeding, fever, and infections. Treatment for juvenile myelomonocytic leukemia may include surgery to remove the spleen, chemotherapy, and stem cell transplant. While a transplant has the potential to cure the disease, there is also a significant risk of relapse. Five year survival rate is around 50 percent. To learn more about juvenile myelomonocytic leukemia, click here.

Genetic Analysis: The Future of Cancer Treatment?

The patient is now doing well and living a relatively normal life. The success of the treatment highlights the fact that often times the genes involved in the disease can play more of a role in determining treatment than the type of cancer itself. The patient’s condition was initially worsening rapidly and doctors initiated chemotherapy so that the infant could undergo stem cell transplant, which is the standard treatment for the cancer. Unfortunately, the patient failed to respond to the chemo, meaning that this approach wasn’t an option anymore.

The team then decided to conduct a molecular profile of the leukemia cells to see what they could learn, and this was when they discovered the gene fusion affecting the FLT3 gene. Prior study has indicated that fusions often respond well to targeted therapies like sorafenib. The treatment brought down the patient’s white blood cell count to normal levels in just two weeks; after ten weeks, the patient was healthy enough to endure stem cell transplant.

So far, the patient continues to be in remission. The case study authors recommend that juvenile myelomonocytic leukemia patients without Ras mutations have RNA sequencing so that other genetic changes can be identified to guide treatment.


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