Table 1: The diagnostic criteria for JMML (2016 WHO
classification).
|
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.
For patients without any oncogenetic parameter, besides clinical and
hematologic features listed under I, the following criteria must be met: |
|
|
-
Monosomy 7 or any other chromosomal abnormality or at least 2 of the
following criteria: |
|
|
-
HbF increased for age |
|
|
-
Myeloid or erythroid precursors on peripheral blood smear |
|
|
-
Spontaneous growth or GM-CSF hypersensitivity in colony assay |
|
|
-
Hyperphosphorylation of STAT5 |
|
WHO:
World Health Organization. * Germ line mutations (indicative of Noonan
syndrome) need to be excluded.
** Occasional
cases may harbor heterozygous splice site mutations. NF-1: Neurifibromin-1;
CBL: Casitas B-lineage lymphoma; PTPN11: Protein Tyrosine Phosphate Non-Receptor
type; K-RAS: Kristen Rat Sarcoma; N-RAS: Neuroblastoma Rat Sarcoma.