Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Juvenile myelomonocytic leukemia pathophysiology
Introduction
Genetics
Genetics
About 80% of JMML patients have some sort of genetic abnormality in their leukemia cells that can be identified with laboratory testing. This includes:
- 15-20% of patients with neurofibromatosis 1 (NF1)
- 25% of patients with mutations in one of the RAS family of oncogenes (only in their leukemia cells)
- Another 35% of patients with a mutation in a gene called PTPN11 (again, only in their leukemia cells).
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]