Juvenile MyeloMonocytic Leukaemia

Clinical Features

Average age of presentation = 2 years old

Splenomegaly

14% of JMML children have clinical neurofibromatosis (and 30% have the NF1 mutation)

Differential

Children with Noonan Syndrome may present with JMML like illness in first weeks of life, resolves spontaneously without treatment.

Investigations

HPLC - Raised HbF %, Low HbA2 %

Film – Immature monocytes, myeloid dysplasia

Genetics – NF1 (Neurofibromatosis), PTPM11, NRAS, KRAS mutations

Treatment

Early allogeneic stem cell transplant +/- prior chemotherapy if:

• Raised WBC, Massive splenomegaly or respiratory complications