Juvenile myelomonocytic leukemia pathophysiology

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

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).

References

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