Juvenile myelomonocytic leukemia pathophysiology

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).