WHO diagnostic criteria for juvenile myelomonocytic leukemia

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/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 peripheral blood smear

GM-CSF hypersensitivity in colony assay

Hyperphosphorylation of STAT5

WHO: World Health Organization; NF1: neurofibromatosis type 1; GM-CSF: granulocyte-macrophage colony-stimulating factor; JMML: juvenile myelomonocytic leukemia.
* Germ line mutations (indicating Noonan syndrome) need to be excluded.
¶ Occasional cases with heterozygous splice site mutations.

Republished with permission of the American Society of Hematology, from Locatelli F, Niemeyer CM. How I treat juvenile myelomonocytic leukemia. Blood 2015; 125:1083. Copyright © 2015; permission conveyed through Copyright Clearance Center, Inc.
Modified in:

Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127:2391.

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WHO diagnostic criteria for juvenile myelomonocytic leukemia