Diagnostic criteria for JMML
| JMML diagnostic criteria . |
|---|
| I. Clinical and hematologic features (all 4 features mandatory) |
| • PB monocyte count ≥1 × 109/L |
| • Blast percentage in PB and BM <20% |
| • Splenomegaly |
| • Absence of Philadelphia chromosome (BCR/ABL1 rearrangement) |
| II. Genetic studies (1 finding sufficient) |
| • Somatic mutation in PTPN11* or KRAS* or NRAS* |
| • Clinical diagnosis of NF1 or NF1 mutation |
| • Germ line CBL mutation and loss of heterozygosity of CBL† |
| III. For patients without genetic features, besides the clinical and hematologic features listed under I, the following criteria must be fulfilled: |
| • Monosomy 7 or any other chromosomal abnormality or at least 2 of the following criteria: |
| • Hemoglobin F increased for age |
| • Myeloid or erythroid precursors on PB smear |
| • GM-CSF hypersensitivity in colony assay |
| • Hyperphosphorylation of STAT5 |
| JMML diagnostic criteria . |
|---|
| I. Clinical and hematologic features (all 4 features mandatory) |
| • PB monocyte count ≥1 × 109/L |
| • Blast percentage in PB and BM <20% |
| • Splenomegaly |
| • Absence of Philadelphia chromosome (BCR/ABL1 rearrangement) |
| II. Genetic studies (1 finding sufficient) |
| • Somatic mutation in PTPN11* or KRAS* or NRAS* |
| • Clinical diagnosis of NF1 or NF1 mutation |
| • Germ line CBL mutation and loss of heterozygosity of CBL† |
| III. For patients without genetic features, besides the clinical and hematologic features listed under I, the following criteria must be fulfilled: |
| • Monosomy 7 or any other chromosomal abnormality or at least 2 of the following criteria: |
| • Hemoglobin F increased for age |
| • Myeloid or erythroid precursors on PB smear |
| • GM-CSF hypersensitivity in colony assay |
| • Hyperphosphorylation of STAT5 |