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