{"orpha":402020,"name":"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402020/","orphanet_url":"https://www.orpha.net/en/disease/detail/402020","names":{"fr":{"name":"Leucémie myéloïde aiguë associée à inv(3)(q21q26.2) ou t(3;3)(q21;q26.2)","definition":"Sous-type de leucémie myéloïde aiguë s'accompagnant d'anomalies génétiques récurrentes, caractérisé par une prolifération clonale de blastes myéloïdes dans la moelle osseuse, le sang et, rarement, dans d'autres tissus. La moelle osseuse présente typiquement des mégacaryocytes hypolobés de petite taille et une dysplasie multilignée. Les signes sont généralement une leucocytose, une anémie, une numération plaquettaire variable et divers symptômes non spécifiques liés à une hématopoïèse inefficace (fatigue, saignements, ecchymoses, infections récurrentes, douleurs osseuses) et/ou à une atteinte extra-médullaire (gingivite, splénomégalie). Une forte résistance à la chimiothérapie conventionnelle est rapportée."},"de":{"name":"Akute myeloische Leukämie mit inv3(q21q26.2) oder t(3;3)(q21;q26.2)","synonyms":["AML mit inv3(p21;q26.2) oder t(3;3)(p21;q26.2)"]},"es":{"name":"Leucemia mieloide aguda con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2)","synonyms":["LMA con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2)"],"definition":"Es un subtipo de leucemia mieloide aguda con anomalías genéticas recurrentes caracterizada por la proliferación clonal de blastos mieloides en la médula ósea, sangre y, excepcionalmente, en otros tejidos. La médula ósea muestra típicamente megacariocitos pequeños e hipolobulados, y displasia multilinaje. Los afectados suelen presentar leucocitosis, anemia, recuento variable de plaquetas y una variedad de síntomas inespecíficos relacionados con la hematopoyesis ineficaz (fatiga, sangrado, hematomas, infecciones recurrentes, dolor de huesos) y/o afectación extramedular (gingivitis, esplenomegalia). Se ha descrito una elevada resistencia a la quimioterapia convencional."},"it":{"name":"Leucemia mieloide acuta con inv3(p21;q26.2) o t(3;3)(p21;q26.2)","synonyms":["AML con inv3(p21;q26.2) o t(3;3)(p21;q26.2)"],"definition":"La leucemia mieloide acuta con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2) è un sottotipo della leucemia mieloide acuta con anomalie genetiche ricorrenti, caratterizzato dalla proliferazione clonale di mieloblasti nel midollo osseo, nel sangue e, raramente, in altri tessuti. Di solito nel midollo osseo si osservano magacariociti ipolobati di piccole dimensioni e displasia multilineare. In genere i pazienti presentano leucocitosi, anemia, un numero variabile di piastrine e vari sintomi aspecifici secondari ad emopoiesi inefficace (affaticamento, emorragie, ecchimosi, infezioni ricorrenti, dolore osseo) e/o all'interessamento extramidollare (gengivite, splenomegalia). È stata segnalata una marcata resistenza alla chemioterapia convenzionale."},"nl":{"name":"Acute myeloïde leukemie met inv3(q21;q26.2) of t(3;3)(q21;q26.2)","synonyms":["AML met inv3(q21;q26.2) of t(3;3)(q21;q26.2)"],"definition":"Een subtype van acute myeloïde leukemie met terugkerende genetische afwijkingen, gekarakteriseerd door klonale proliferatie van myeloïde blastcellen in beenmerg, bloed en, zelden, andere weefsels. Beenmerg vertoont doorgaans kleine, ondermaats gelobde megakaryocyten en multilineaire dysplasie. Patiënten vertonen doorgaans leukocytose, anemie, een variabel aantal bloedplaatjes, en een verscheidenheid aan niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloeding, kneuzing, recurrente infecties, botpijn) en/of betrokkenheid van extramedullaire gebieden (gingivitis, splenomegalie). Er werd een hoge resistentie tegen conventionele chemotherapie gerapporteerd."},"pt":{"name":"Leucemia mielóide aguda com inv3(p21;q26.2) ou t(3;3)(p21;q26.2)"},"pl":{"name":"Ostra białaczka szpikowa z inv3(p21;q26.2) i t(3;3)(p21;q26.2)","synonyms":["AML z inv3(p21;q26.2) lub t(3;3)(p21;q26.2)"]},"cs":{"name":"Akutní myeloidní leukémie s inv3(p21;q26.2) nebo t(3;3)(p21;q26.2)","synonyms":["AML s inv3(p21;q26.2) nebo t(3;3)(p21;q26.2)"]},"uk":{"name":"Гострий мієлоїдний лейкоз з inv(3)(q21q26.2) або t(3;3)(q21;q26.2)","synonyms":["AML з inv(3)(q21q26.2) або t(3;3)(q21;q26.2)"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported."},"zh":{"name":"急性髓系白血病伴inv(3)(q21q26.2) or t(3;3)(q21;q26.2)变异","synonyms":["AML伴inv(3)(q21q26.2)或t(3;3)(q21;q26.2)"],"definition":"急性髓系细胞白血病的一种亚型，具有反复发生的遗传异常，其特征是骨髓母细胞在骨髓，血液以及其他组织（少见）中克隆增殖。骨髓通常表现为小的分叶少的巨核细胞和多系发育异常。患者通常表现为白细胞增多，贫血，血小板计数变化多样以及与无效的造血相关的其他非特异性临床表现（疲劳，出血，瘀伤，反复感染，骨痛）和/或髓外部位受累（牙。龈炎，脾肿大）。据报道对常规化学疗法有高度耐受。"},"tr":{"name":"inv (3)(q21q26.2) veya t(3; 3)(q21; q26.2) ile seyreden akut miyeloid lösemi","synonyms":["inv(3)(q21q26.2) veya t(3;3)(q21;q26.2)ile seyreden AML"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1747496011"},{"source":"MONDO","code":"0018435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2826172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98277,"name":"Acute myeloid leukemia with recurrent genetic anomaly","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"MECOM","name":"MDS1 and EVI1 complex locus","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]_20556821[PMID]","hgnc":"3498","ensembl":"ENSG00000085276","omim":"165215","loci":["3q26.2"]},{"symbol":"RPN1","name":"ribophorin I","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]_20556821[PMID]","hgnc":"10381","ensembl":"ENSG00000163902","omim":"180470","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":null,"value":0.02,"area":"Worldwide","status":"Validated","source":"36951163[PMID]_ORPHANET"}],"phenotypes":null}