Table 5. Diagnostic Criteria for Juvenile Myelomonocytic Leukemia (JMML)
| Category 1 (all of the following)a | Category 2 (at least one of the following)b,c | Category 3 (two of the following if no category 2 criteria are met)a,d |
| Absence of the BCR/ABL1 fusion gene | Somatic mutation in RAS or PTPN11 | White blood cell count >10 × 109/L |
| >1 × 109/L circulating monocytes | Clinical diagnosis of NF1 or NF1 gene mutation | Circulating myeloid precursors |
| <20% blasts in the bone marrow | Monosomy 7 | Increased hemoglobin F for age |
| Splenomegalyb,e | Clonal cytogenetic abnormality excluding monosomy 7b | |
| GM-CSF hypersensitivity |
| GM-CSF = granulocyte-macrophage colony-stimulating factor. | ||
| aCurrent World Health Organization (WHO) criteria. | ||
| bProposed additions to the WHO criteria that were discussed by participants attending the JMML Symposium in Atlanta, Georgia in 2008.[2] CBL mutations were discovered subsequent to the symposium and should be screened for in the workup of a patient with suspected JMML.[3] | ||
| cPatients who are found to have a category 2 lesion need to meet the criteria in category 1 but do not need to meet the category 3 criteria. | ||
| dPatients who are not found to have a category 2 lesion must meet the category 1 and 3 criteria. | ||
| eNote that only 7% of patients with JMML will NOT present with splenomegaly but virtually all patients develop splenomegaly within several weeks to months of initial presentation. |
References
- Chan RJ, Cooper T, Kratz CP, et al.: Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leuk Res 33 (3): 355-62, 2009. [PUBMED Abstract]
- Loh ML: Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br J Haematol 152 (6): 677-87, 2011. [PUBMED Abstract]
