{"orpha":86834,"name":"Juvenile myelomonocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JMML","Juvenile chronic myelomonocytic leukemia"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86834/","orphanet_url":"https://www.orpha.net/en/disease/detail/86834","names":{"fr":{"name":"Leucémie myélomonocytaire juvénile","synonyms":["Leucémie myélomonocytaire chronique juvénile"],"definition":"Maladie myélodysplasique/myéloproliférative rare caractérisée par une prolifération primaire de lignées granulocytaires et monocytaires infiltrant le foie et la rate, ainsi que d'autres organes. Les blastes et les promonocytes représentent moins de 20 % des globules blancs du sang périphérique et de la moelle osseuse. On observe souvent des anomalies des lignées érythroïdes et mégacaryocytaires. Le gène de fusion BCR-ABL1 est absent, tandis que l'on retrouve des mutations somatiques des gènes de la voie RAS ou une monosomie 7. La maladie peut également survenir chez les individus souffrant d'une neurofibromatose de type 1 ou d'une maladie s'apparentant au syndrome de Noonan. La maladie touche principalement les enfants âgés de moins de 3 ans, avec une prépondérance nettement masculine. La plupart des patients présentent des dérégulations constitutionnelles, des signes d'infection et une hépatosplénomégalie."},"de":{"name":"Leukämie, juvenile myelomonozytäre","synonyms":["JMML","Leukämie, chronische juvenile myelomonozytische"],"definition":"Eine myelodysplastische/myeloproliferative Neoplasie, die durch eine Proliferation vor allem der granulozytären und monozytären Linien gekennzeichnet ist und unter anderem Leber und Milz infiltriert. Blasten und Promonozyten machen weniger als 20 % der weißen Blutkörperchen im peripheren Blut und im Knochenmark aus. Erythroide und megakaryozytäre Anomalien sind häufig vorhanden. Eine BCR-ABL1-Fusion liegt nicht vor, während somatische Mutationen in Genen des RAS-Signalwegs oder Monosomie 7 gefunden werden können. Die Erkrankung kann auch im Zusammenhang mit einer Neurofibromatose Typ 1 oder einer dem Noonan-Syndrom ähnlichen Störung auftreten. Es sind überwiegend Kinder unter drei Jahren betroffen, wobei die männliche Patienten eindeutig überwiegen. Die meisten Betroffenen weisen konstitutionelle Symptome, Anzeichen einer Infektion und Hepatosplenomegalie auf."},"es":{"name":"Leucemia mielomonocítica juvenil","synonyms":["LMMJ","Leucemia mielomonocítica crónica juvenil"],"definition":"Es una neoplasia mielodisplásica/mieloproliferativa poco frecuente caracterizada por la proliferación principalmente de las líneas granulocíticas y monocíticas con infiltración hepática y esplénica, entre otros órganos. Los blastos y los promonocitos representan menos del 20% de los glóbulos blancos en la sangre periférica y en la médula ósea. A menudo se presentan anomalías eritroides y megacariocíticas. La fusión BCR-ABL1 está ausente, aunque se pueden encontrar mutaciones somáticas en genes de la vía RAS o monosomía 7. El trastorno también puede presentarse en el contexto de la neurofibromatosis tipo 1 o del trastorno similar al síndrome de Noonan. Los niños menores de tres años son los afectados con mayor frecuencia, con un claro predominio masculino. La mayoría de los pacientes se presentan con síntomas constitucionales, signos de infección y hepatoesplenomegalia."},"it":{"name":"Leucemia mielomonocitica giovanile","synonyms":["Leucemia mielomonocitica cronica giovanile"],"definition":"Si tratta di una neoplasia mielodisplastica/mieloproliferativa rara, caratterizzata dalla proliferazione delle linee granulocitiche e monocitiche con infiltrazione del fegato, della milza e di altri organi. I blasti e i promonociti rappresentano meno del 20% dei globuli bianchi nel sangue periferico e nel midollo osseo. Spesso si osservano anomalie eritroidi e megacariocitiche. È assente la fusione BCR-ABL1, mentre si possono riscontrare mutazioni somatiche nei geni della via RAS o la monosomia 7. La malattia può insorgere anche nel quadro della neurofibromatosi di tipo 1 o della malattia simil-Noonan. La malattia colpisce prevalentemente i bambini di età inferiore ai tre anni, con una marcata predominanza nei maschi. La maggior parte dei pazienti presenta sintomi costituzionali, infezioni ed epatosplenomegalia."},"nl":{"name":"Juveniele myelomonocytaire leukemie","synonyms":["JMML","Juveniele chronische myelomonocytaire leukemie"],"definition":"Een zeldzaam myelodysplastisch/myeloproliferatief neoplasma, gekarakteriseerd door een proliferatie van hoofdzakelijk granulocytaire en monocytaire cellijnen met infiltratie van onder meer lever en milt. Blastcellen en promonocyten vertegenwoordigen minder dan 20% van de leukocyten in perifeer bloed en beenmerg. Erytroïde en megakaryocytaire afwijkingen zijn vaak aanwezig. Fusie van BCR-ABL1 is afwezig, terwijl somatische mutaties in genen van de RAS-signaalweg of monosomie 7 kunnen aangetroffen worden. De aandoening kan ook voorkomen in de context van neurofibromatose type 1 of op syndroom van Noonan gelijkende aandoening. Voornamelijk kinderen jonger dan drie jaar worden getroffen, vooral van het mannelijke geslacht. De meeste patiënten presenteren zich met constitutionele symptomen, verschijnselen van infectie, en hepatosplenomegalie."},"pt":{"name":"Leucemia mielomonocítica juvenil"},"pl":{"name":"Białaczka mielomonocytowa wieku dziecięcego","synonyms":["Młodzieńcza przewlekła białaczka mielomonocytowa"]},"cs":{"name":"Juvenilní myelomonocytární leukémie","synonyms":["JMML","Juvenilní chronická myelomonocytární leukémie"]},"uk":{"name":"Ювенільний мієломоноцитарний лейкоз","synonyms":["ЮММЛ","Ювенільний хронічний мієломоноцитарний лейкоз"],"definition":"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."},"zh":{"name":"青少年型骨髓单核细胞白血病","synonyms":["青少年型慢性粒-单核细胞白血病"]},"tr":{"name":"Jüvenil miyelomonositik lösemi","synonyms":["JMML","Jüvenil kronik miyelomonositik lösemi"]}},"xrefs":[{"source":"OMIM","code":"607785","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C93.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A42","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1786015803"},{"source":"MONDO","code":"0011908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054429","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0349639","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98275,"name":"Myelodysplastic/myeloproliferative disease","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"RRAS","name":"RAS related","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24705357[PMID]","hgnc":"10447","ensembl":"ENSG00000126458","omim":"165090","loci":["19q13.33"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"20139388[PMID]_23832011[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19571318[PMID]_20139388[PMID]_23832011[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]},{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"20139388[PMID]_22753870[PMID]_23832011[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]},{"symbol":"PTPN11","name":"protein tyrosine phosphatase non-receptor type 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19571318[PMID]_21930766[PMID]_20139388[PMID]_23832011[PMID]","hgnc":"9644","ensembl":"ENSG00000179295","omim":"176876","loci":["12q24.13"]},{"symbol":"CBL","name":"Cbl proto-oncogene","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23832011[PMID]","hgnc":"1541","ensembl":"ENSG00000110395","omim":"165360","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":null}