Table 2.
Diagnostic Criteria for Juvenile Myelomonocytic Leukemia (JMML) Per the 2016 Revision to World Health Organization Classification [52]
| Diagnostic criteria of JMML | ||
|---|---|---|
| Category 1 (All are required) | Clinical and Hematologic Features | Absence of the BCR-ABL1 fusion gene |
| >1 × 10/L circulating monocytes | ||
| <20% blasts in the peripheral blood and bone marrow | ||
| Splenomegaly | ||
| Category 2 (One is sufficient) | Genetic Studies | Somatic mutation in KRAS, NRAS, or PTPN11 (germline mutations need to be excluded) |
| Clinical diagnosis of NF-1 or NF-1 gene mutation | ||
| Germline CBL mutation and loss of heterozygosity of CBL | ||
| Category 3 (patients without genetic features must have the following in addition to category 1) | Other Features | Monosomy 7 or other chromosomal abnormality, or at least 2 of the criteria listed below: |
| Circulating myeloid or erythroid precursors | ||
| Increased hemoglobin F for age | ||
| Hyperphosphorylation of STAT-5 | ||
| GM-CSF hypersensitivity | ||
NF-1: Neurofibromin-1; CBL: Casitas B-lineage lymphoma; PTPN11: Protein tyrosine phosphatase non-receptor type; KRAS: Kirsten rat sarcoma; NRAS: Neuroblastoma rat sarcoma.