Juvenile myelomonocytic leukemia
Synonyms: JMML · Juvenile chronic myelomonocytic leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile myelomonocytic leukemia | JMML · Juvenile chronic myelomonocytic leukemia |
| fr | Leucémie myélomonocytaire juvénile | Leucémie myélomonocytaire chronique juvénile |
| de | Leukämie, juvenile myelomonozytäre | JMML · Leukämie, chronische juvenile myelomonozytische |
| es | Leucemia mielomonocítica juvenil | LMMJ · Leucemia mielomonocítica crónica juvenil |
| it | Leucemia mielomonocitica giovanile | Leucemia mielomonocitica cronica giovanile |
| nl | Juveniele myelomonocytaire leukemie | JMML · Juveniele chronische myelomonocytaire leukemie |
| pt | Leucemia mielomonocítica juvenil | |
| pl | Białaczka mielomonocytowa wieku dziecięcego | Młodzieńcza przewlekła białaczka mielomonocytowa |
| cs | Juvenilní myelomonocytární leukémie | JMML · Juvenilní chronická myelomonocytární leukémie |
| uk | Ювенільний мієломоноцитарний лейкоз | ЮММЛ · Ювенільний хронічний мієломоноцитарний лейкоз |
| zh | 青少年型骨髓单核细胞白血病 | 青少年型慢性粒-单核细胞白血病 |
| tr | Jüvenil miyelomonositik lösemi | JMML · Jüvenil kronik miyelomonositik lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607785 | E | validated | |
| ICD-10 | C93.3 | E | specific | validated |
| ICD-11 | 2A42 | E | specific | validated |
| MONDO | 0011908 | E | validated | |
| MeSH | D054429 | E | validated | |
| UMLS | C0349639 | E | validated | |
| GARD | 9884 | E | validated | |
| MedDRA | 10023249 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98275Myelodysplastic/myeloproliferative disease
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RRAS | Candidate gene tested in | Not yet assessed | HGNC:10447 | ENSG00000126458 | 165090 | 19q13.33 | RAS related | 24705357[PMID] |
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 20139388[PMID]_23832011[PMID] |
| NF1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 19571318[PMID]_20139388[PMID]_23832011[PMID] |
| NRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 20139388[PMID]_22753870[PMID]_23832011[PMID] |
| PTPN11 | Disease-causing somatic mutation(s) in | Assessed | HGNC:9644 | ENSG00000179295 | 176876 | 12q24.13 | protein tyrosine phosphatase non-receptor type 11 | 19571318[PMID]_21930766[PMID]_20139388[PMID]_23832011[PMID] |
| CBL | Major susceptibility factor in | Not yet assessed | HGNC:1541 | ENSG00000110395 | 165360 | 11q23.3 | Cbl proto-oncogene | 23832011[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86834
- This record as JSON: /data/d/86834.json