Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Treatment - Health Pro
Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Treatment - Health Professional Information [NCI]-Classification of Pediatric Myeloid Malignancies
Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Treatment - Health Professional Information [NCI] Guide
Characteristics of JMML cells include in vitro hypersensitivity to granulocyte-macrophage colony-stimulating factor and activated RAS signaling secondary to mutations in various components of this pathway including NF1, KRAS,NRAS, and PTPN11.[192,193,194] Mutations of the E3 ubiquitin ligase CBL are observed in 10% to 15% of JMML cases,[195,196] with many of these cases occurring in children with germline CBL mutations.[197,198]CBL germline mutations result in an autosomal dominant developmental disorder that is characterized by impaired growth, developmental delay, cryptorchidism, and a predisposition to JMML.[197] Some individuals with CBL germline mutations experience spontaneous regression of their JMML, but develop vasculitis later in life.[197]CBL mutations are mutually exclusive with RAS and PTPN11 mutations.[195] While most children with JMML have no detectable cytogenetic abnormalities, 20% to 25% show loss of chromosome 7 in bone marrow cells.[182,188,197,199,200]
Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Treatment - Health Professional Information [NCI] - Classification of Pediatric Myeloid Malignancies
Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®): Treatment - Health Professional Information [NCI] Guide
- General Information
- Classification of Pediatric Myeloid Malignancies
- Treatment Overview for Acute Myeloid Leukemia (AML)
- Treatment of Newly Diagnosed AML
- Postremission Therapy for AML
- Acute Promyelocytic Leukemia
- Children with Down Syndrome
- Myelodysplastic Syndromes
- Therapy-Related AML / Myelodysplastic Syndromes
- Juvenile Myelomonocytic Leukemia
- Chronic Myelogenous Leukemia
- Recurrent Childhood AML and Other Myeloid Malignancies
- Survivorship and Adverse Late Sequelae
- Changes to This Summary (08 / 15 / 2014)
- About This PDQ Summary
- Get More Information From NCI
Table 4. Diagnostic Criteria for Juvenile Myelomonocytic Leukemia (JMML)
| Category 1 (all of the following)a | Category 2 (at least one of the following)b,c | Category 3 (two of the following if no category 2 criteria are met)a,d |
|---|---|---|
| GM-CSF = granulocyte-macrophage colony-stimulating factor; NF1 = neurofibromatosis type 1. | ||
| a Current World Health Organization (WHO) criteria. | ||
| b Proposed additions to the WHO criteria that were discussed by participants attending the JMML Symposium in Atlanta, Georgia in 2008.[190]CBLmutations were discovered subsequent to the symposium and should be screened for in the workup of a patient with suspected JMML.[191] | ||
| c Patients who are found to have a category 2 lesion need to meet the criteria in category 1 but do not need to meet the category 3 criteria. | ||
| d Patients who are not found to have a category 2 lesion must meet the category 1 and 3 criteria. | ||
| e Note that only 7% of patients with JMML will NOT present with splenomegaly but virtually all patients develop splenomegaly within several weeks to months of initial presentation. | ||
| Absence of theBCR-ABL1fusion gene | Somatic mutation inRASorPTPN11 | White blood cell count >10 × 109 /L |
| >1 × 109 /L circulating monocytes | Clinical diagnosis of NF1 orNF1gene mutation | Circulating myeloid precursors |
| <20% blasts in the bone marrow | Monosomy 7 | Increased hemoglobin F for age |
| Splenomegalyb,e | Clonal cytogenetic abnormality excluding monosomy 7b | |
| GM-CSF hypersensitivity | ||
Characteristics of JMML cells include in vitro hypersensitivity to granulocyte-macrophage colony-stimulating factor and activated RAS signaling secondary to mutations in various components of this pathway including NF1, KRAS,NRAS, and PTPN11.[192,193,194] Mutations of the E3 ubiquitin ligase CBL are observed in 10% to 15% of JMML cases,[195,196] with many of these cases occurring in children with germline CBL mutations.[197,198]CBL germline mutations result in an autosomal dominant developmental disorder that is characterized by impaired growth, developmental delay, cryptorchidism, and a predisposition to JMML.[197] Some individuals with CBL germline mutations experience spontaneous regression of their JMML, but develop vasculitis later in life.[197]CBL mutations are mutually exclusive with RAS and PTPN11 mutations.[195] While most children with JMML have no detectable cytogenetic abnormalities, 20% to 25% show loss of chromosome 7 in bone marrow cells.[182,188,197,199,200]