Juvenile myelomonocytic leukemia pathophysiology
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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).
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