Diagnostic criteria for juvenile myelomonocytic leukemia
| I. Clinical and hematologic features (the first 2 features are present in most cases; the last 2 are required) • PB monocyte count ≥ 1 × 109/L* • Splenomegaly† • Blast percentage in PB and BM < 20% • Absence of BCR::ABL1 |
| II. Genetic studies (1 finding required) • Somatic mutation in PTPN11‡ or KRAS‡ or NRAS‡ or RRAS‡ • Germline NF1 mutation and loss of heterozygosity of NF1 or clinical diagnosis of neurofibromatosis type 1 • Germline CBL mutation and loss of heterozygosity of CBL§ |
| I. Clinical and hematologic features (the first 2 features are present in most cases; the last 2 are required) • PB monocyte count ≥ 1 × 109/L* • Splenomegaly† • Blast percentage in PB and BM < 20% • Absence of BCR::ABL1 |
| II. Genetic studies (1 finding required) • Somatic mutation in PTPN11‡ or KRAS‡ or NRAS‡ or RRAS‡ • Germline NF1 mutation and loss of heterozygosity of NF1 or clinical diagnosis of neurofibromatosis type 1 • Germline CBL mutation and loss of heterozygosity of CBL§ |