Table 1 Updated clinical and laboratory... | American Society of Hematology

Table 1

Updated clinical and laboratory 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

• Absence of Philadelphia chromosome (BCR/ABL rearrangement)

II. Oncogenetic studies (1 finding is sufficient)

• Somatic mutation in PTPN11* or K-RAS* or N-RAS*†

• Clinical diagnosis of NF-1 or germline NF1 mutation

• Germline CBL mutation and loss of heterozygosity of CBL‡

III. Only for those patients (10% of the whole number) without any oncogenetic parameter, besides the clinical and hematologic features listed under I, at least 2 of the following criteria have to be fulfilled:

• Monosomy 7 or any other chromosomal abnormality

• HbF increased for age

• Myeloid precursors on peripheral blood smear

• Spontaneous growth or GM-CSF hypersensitivity in colony assay

• Hyperphosphorylation of STAT5

Germline mutations (indicating Noonan syndrome) need to be excluded.

Diagnosis of JMML but spontaneous regression of myeloproliferation may be noted in:

†

Few patients with N-RAS mutation and normal HbF.

‡

Patients with CBL germline mutation and loss of heterozygosity.

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