Table 8.

Diagnostic guidelines for juvenile myelomonocytic leukemia (JMML) (adapted from5).

Suggestive clinical features Hepatosplenomegaly 
 Lymphadenopathy 
 Pallor 
 Fever 
 Skin rash 
Laboratory criteria No Ph chromosome, no BCR-ABL rearrangement 
Minimal criteria
 (all 3 must be fulfilled) Peripheral blood monocyte count > 1 × 109/L
 Bone marrow blast < 20% 
Criteria for definite diagnosis
 (at least 2 must be fulfilled) Hemoglobin F increased for age 
 Myeloid precursors on peripheral blood smear 
 White blood cell count > 10 × 109/L 
 Clonal abnormality 
 Granulocyte-macrophage colony-stimulating factor (GM-
 CSF) hypersensitivity of myeloid progenitors in vitro 
Suggestive clinical features Hepatosplenomegaly 
 Lymphadenopathy 
 Pallor 
 Fever 
 Skin rash 
Laboratory criteria No Ph chromosome, no BCR-ABL rearrangement 
Minimal criteria
 (all 3 must be fulfilled) Peripheral blood monocyte count > 1 × 109/L
 Bone marrow blast < 20% 
Criteria for definite diagnosis
 (at least 2 must be fulfilled) Hemoglobin F increased for age 
 Myeloid precursors on peripheral blood smear 
 White blood cell count > 10 × 109/L 
 Clonal abnormality 
 Granulocyte-macrophage colony-stimulating factor (GM-
 CSF) hypersensitivity of myeloid progenitors in vitro 
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