{"orpha":98823,"name":"Chronic myelomonocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMML"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, splenomegaly), with marrow dysplasia and risk of progression to acute myeloid leukemia (AML).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98823/","orphanet_url":"https://www.orpha.net/en/disease/detail/98823","names":{"fr":{"name":"Leucémie myélomonocytaire chronique","synonyms":["LMMC","Syndrome myélomonocytaire chronique"],"definition":"Tumeur myélodysplasique/myéloproliférative rare caractérisée par un spectre de caractéristiques cliniques, hématologiques et morphologiques, allant d'une myélodysplasie prédominante à une myéloprolifération marquée, avec une monocytose sanguine (> 1G/L, constituant > 10 % des leucocytes circulants). Elle est souvent associée à une cytopénie sanguine et/ou à des « caractéristiques prolifératives » (augmentation du nombre de leucocytes, splénomégalie), à une dysplasie médullaire et à un risque d'évolution vers une leucémie myéloïde aiguë (LMA)."},"de":{"name":"Leukämie, chronische myelomonozytäre","synonyms":["CMML"],"definition":"Eine seltene myelodysplastische/myeloproliferative Neoplasie, die durch ein Spektrum klinischer, hämatologischer und morphologischer Merkmale gekennzeichnet ist, die von überwiegend myelodysplastischer bis zu überwiegend myeloproliferativer Natur reichen, mit Monozytose im Blut (> 1G/L, die > 10% der zirkulierenden Leukozyten ausmacht). Sie ist häufig mit einer Zytopenie des Blutes und/oder ,,proliferativen Merkmalen'' (erhöhte Leukozytenzahl, Splenomegalie), mit Knochenmarkdysplasie und dem Risiko einer Progression zur akuten myeloischen Leukämie (AML) verbunden."},"es":{"name":"Leucemia mielomonocítica crónica","synonyms":["LMMC"],"definition":"Es una neoplasia mielodisplásica/ mieloproliferativa poco frecuente caracterizada por un espectro de características clínicas, hematológicas y morfológicas, que van desde un carácter predominantemente mielodisplásico hasta marcadamente mieloproliferativo, con monocitosis sanguínea (> 1 G/L, que constituye > 10% de los leucocitos circulantes). A menudo se asocia con citopenia sanguínea y/o \"características proliferativas\" (aumento del recuento de leucocitos, esplenomegalia), con displasia medular y con riesgo de progresión a leucemia mieloide aguda (LMA)."},"it":{"name":"Leucemia mielomonocitica cronica","definition":"Si tratta di una neoplasia mielodisplastica/mieloproliferativa rara, con caratteristiche cliniche, ematologiche e morfologiche che vanno dalla natura prevalentemente mielodisplastica fino a quella prevalentemente mieloproliferativa. È comune l'infiltrazione del fegato, della milza, dei linfonodi e degli altri organi. La monocitosi persistente del sangue periferico con monociti che rappresentano oltre il 10% dei leucociti è caratteristica della malattia. I blasti rappresentano meno del 20% delle cellule del sangue periferico e del midollo osseo. La malattia si associa ad altre anomalie variabili. I pazienti possono presentare sintomi costituzionali, i segni e i sintomi dell'insufficienza ematopoietica e della epatosplenomegalia. La malattia può evolvere nella leucemia mieloide acuta."},"nl":{"name":"Chronische myelomonocytaire leukemie","synonyms":["CMML"],"definition":"Een zeldzaam myelodysplastisch/myeloproliferatief neoplasma, gekenmerkt door een spectrum van klinische, hematologische en morfologische kenmerken, gaande van overwegend myelodysplastisch tot voornamelijk myeloproliferatief van aard, met monocytose in bloed (meer dan 1G/L, goed voor meer dan 10% van de circulerende leukocyten). Het is vaak geassocieerd met cytopenie en/of proliferatieve kenmerken (verhoogd aantal leukocyten, splenomegalie), met dysplasie van beenmerg en risico op progressie tot acute myeloïde leukemie (AML)."},"pt":{"name":"Leucemia mielomonocítica crónica","definition":"Neoplasia mielodisplásica/mieloproliferativa rara caracterizada por um espectro de características clínicas, hematológicas e morfológicas, variando de natureza predominantemente mielodisplásica a principalmente mieloproliferativa, com monocitose no sangue (> 1 G/L, constituindo > 10% dos leucócitos circulantes). Está frequentemente associada a citopenia no sangue e/ou ''características proliferativas'' (aumento da contagem de leucócitos, esplenomegalia), a displasia da medula e a risco de progressão para leucemia mieloide aguda (LMA)."},"pl":{"name":"Przewlekła białaczka mielomonocytowa","synonyms":["CMML"]},"cs":{"name":"Chronická myelomonocytická leukémie","synonyms":["CMML"]},"uk":{"name":"Хронічна мієломоноцитарна лейкемія","synonyms":["CMML"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, splenomegaly), with marrow dysplasia and risk of progression to acute myeloid leukemia (AML)."},"zh":{"name":"慢性粒-单核细胞白血病","synonyms":["CMML"]},"tr":{"name":"Kronik miyelomonositik lösemi","synonyms":["CMML"]}},"xrefs":[{"source":"ICD-10","code":"C93.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2073226578"},{"source":"MONDO","code":"0020311","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023480","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8225","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009018","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":"ASXL1","name":"ASXL transcriptional regulator 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"31723789[PMID]","hgnc":"18318","ensembl":"ENSG00000171456","omim":"612990","loci":["20q11.21"]},{"symbol":"SRSF2","name":"serine and arginine rich splicing factor 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"31723789[PMID]","hgnc":"10783","ensembl":"ENSG00000161547","omim":"600813","loci":["17q25.2"]},{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"8168137[PMID]_7742547[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"Worldwide","status":"Validated","source":"30690330[PMID]_32501529[PMID]"}],"phenotypes":null}