Juvenile myelomonocytic leukemia (JMML)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | DIS-JMML |
|---|---|
| Type | Disease |
| Aliases | JMMLJuvenile myelomonocytic leukemiainfantile monosomy 7 syndromejuvenile myelomonocytic leukaemiaЮвенільний мієломоноцитарний лейкоз (ЮММЛ) |
| Status | reviewed 2026-05-04 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-COG |
Informational support. All recommendations must be verified by a qualified oncologist. Engineering checks are not clinical validation or treatment approval.
| icd_o_3_morphology | 9946/3 |
|---|---|
| icd_o_3_topography | ["C42.1"] |
| icd_10 | C93.3 |
| who_classification | WHO Classification of Haematopoietic and Lymphoid Tumours 5th ed (2022): Juvenile myelomonocytic leukaemia |
Notes
JMML is a rare pediatric overlap myeloid neoplasm with myelodysplastic and myeloproliferative features. Allogeneic HCT is the only curative treatment (5-yr EFS ~50%). The RAS/MAPK pathway is activated in ~90% of cases; PTPN11 mutations (SHP2 gain-of-function) are the most common driver. SHP2 inhibitors (RMC-4630, TNO155, SHP099, ERAS-601) are in phase I/II trials, including pediatric expansion cohorts. Important: germline PTPN11 (Noonan syndrome) is associated with a usually self-limiting myeloproliferative process that may not require HCT — distinguishing somatic vs germline PTPN11 is clinically critical. Somatic PTPN11 mutations confer worse prognosis. Azacitidine is used as bridge to HCT. Post-HCT relapse treated with second transplant or investigational agents.
Used By
Actionability
BMA-PTPN11-JMML- PTPN11 somatic activating mutations are present in ~35% of JMML cases and define the most...
Algorithms
ALGO-JMML-1L- ALGO-JMML-1L
Indication
IND-JMML-1L-ALLOHCT- IND-JMML-1L-ALLOHCT
Questionnaires
QUEST-JMML-1L-STUB- Juvenile myelomonocytic leukemia — first line