Diagnostic criteria of JMML
| I. Clinical and hematologic features (all 4 features mandatory) |
| Peripheral blood monocyte count > 1 × 109/L |
| Blast percentage in peripheral blood and bone marrow <20% |
| Splenomegaly (not always apparent at diagnosis) |
| Absence of Philadelphia chromosome (BCR/ABL rearrangement) |
| II. Oncogenetic studies (1 finding is sufficient) |
| Somatic mutation in PTPN11, KRAS, or NRAS |
| Clinical diagnosis of NF1 or germ line NF1 mutation |
| Germ line CBL mutation and loss of heterozygosity of CBL |
| III. For patients with the clinical and hematologic features under (I) but without an oncogenetic criterion (10%), at least 2 of the following criteria must be fulfilled: |
| Monosomy 7 or any other chromosomal abnormality |
| HbF increased for age |
| Myeloid precursors in peripheral blood |
| Spontaneous growth or granulocyte-macrophage colony-stimulating factor hypersensitivity in colony assay |
| Hyperphosphorylation of STAT5 |
| I. Clinical and hematologic features (all 4 features mandatory) |
| Peripheral blood monocyte count > 1 × 109/L |
| Blast percentage in peripheral blood and bone marrow <20% |
| Splenomegaly (not always apparent at diagnosis) |
| Absence of Philadelphia chromosome (BCR/ABL rearrangement) |
| II. Oncogenetic studies (1 finding is sufficient) |
| Somatic mutation in PTPN11, KRAS, or NRAS |
| Clinical diagnosis of NF1 or germ line NF1 mutation |
| Germ line CBL mutation and loss of heterozygosity of CBL |
| III. For patients with the clinical and hematologic features under (I) but without an oncogenetic criterion (10%), at least 2 of the following criteria must be fulfilled: |
| Monosomy 7 or any other chromosomal abnormality |
| HbF increased for age |
| Myeloid precursors in peripheral blood |
| Spontaneous growth or granulocyte-macrophage colony-stimulating factor hypersensitivity in colony assay |
| Hyperphosphorylation of STAT5 |