{"orpha":86843,"name":"Acute panmyelosis with myelofibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute myelodysplasia with myelofibrosis","Acute myelofibrosis"],"definition":"A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86843/","orphanet_url":"https://www.orpha.net/en/disease/detail/86843","names":{"fr":{"name":"Panmyélose aiguë avec myélofibrose","synonyms":["Myélodysplasie aiguë avec myélofibrose","Myélofibrose aiguë"],"definition":"Leucémie myéloïde aiguë rare, non-classifiée, caractérisée par une prolifération panmyéloïde aiguë avec des blastes constituant plus de 20 % des cellules de la moelle osseuse ou du sang périphérique, associée à une fibrose de la moelle osseuse. Les patients présentent généralement des symptômes constitutionnels sévères d'apparition aiguë, des douleurs osseuses et une pancytopénie. La splénomégalie est légère, voire inexistante. La maladie est rapidement progressive et la réponse au traitement est faible."},"de":{"name":"Akute Panmyelose mit Myelofibrose","synonyms":["Akute Myelodysplasie mit Myelofibrose","Myelofibrose, akute","Myelosklerose, akute"],"definition":"Eine nicht klassifizierte akute myeloische Leukämie, die durch eine akute panmyeloische Proliferation mit Blasten gekennzeichnet ist, die mehr als 20 % der Zellen im Knochenmark oder peripheren Blut ausmachen, begleitet von einer Fibrose des Knochenmarks. Die Patienten präsentieren sich typischerweise mit akutem Auftreten schwerer konstitutioneller Symptome, Knochenschmerzen und Panzytopenie. Eine Splenomegalie ist minimal oder nicht vorhanden. Die Krankheit schreitet schnell voran und spricht schlecht auf die Therapie an."},"es":{"name":"Panmielosis aguda con mielofibrosis","synonyms":["Mielodisplasia aguda con mielofibrosis","Mieloesclerosis aguda","Mielofibrosis aguda"],"definition":"Es una leucemia mieloide aguda no clasificada poco frecuente caracterizada por una proliferación panmieloide aguda con blastos constituyendo más del 20% de las células en la médula ósea o en la sangre periférica, acompañada de fibrosis de la médula ósea. Los pacientes suelen presentar un inicio agudo de síntomas constitucionales graves, dolor óseo y pancitopenia. La esplenomegalia es mínima o ausente. La enfermedad es rápidamente progresiva con una respuesta terapéutica deficiente."},"it":{"name":"Panmielosi acuta con mielofibrosi","synonyms":["Mielodisplasia acuta con mielofibrosi","Mielofibrosi acuta","Mielosclerosi acuta"],"definition":"Si tratta di una leucemia mieloide acuta rara non classificata, caratterizzata da una proliferazione panmieloide acuta con i blasti che costituiscono oltre il 20% delle cellule del midollo osseo o del sangue periferico, associata alla fibrosi del midollo osseo. Di solito l'esordio è acuto e i pazienti presentano gravi sintomi costituzionali, dolore osseo e pancitopenia. La splenomegalia è minima o assente. La malattia progredisce rapidamente e risponde poco alla terapia."},"nl":{"name":"Acute panmyelose met myelofibrose","synonyms":["Acute myelodysplasie met myelofibrose","Acute myelofibrose","Acute myelosclerose"],"definition":"Een zeldzame, niet-geclassificeerde acute myeloïde leukemie, gekarakteriseerd door een acute panmyeloïde proliferatie met blastcellen die meer dan 20% van de cellen in beenmerg of perifeer bloed vertegenwoordigen, vergezeld van fibrose van beenmerg. patiënten presenteren zich doorgaans met acute aanvang van ernstige constitutionele symptomen, botpijn, en pancytopenie. Splenomegalie is minimaal of afwezig. De ziekte is snel progressief en vertoont weinig respons op therapie."},"pt":{"name":"Panmielose aguda com mielofibrose"},"pl":{"name":"Ostra panmieloza z mielofibrozą","synonyms":["Ostra mielodysplazja z mielofibrozą","Ostra mielofibroza","Ostra mieloskleroza"]},"cs":{"name":"Akutní panmyelóza s myelofibrózou","synonyms":["Akutní myelodysplázie s myelofibrózou","Akutní myelofibróza","Akutní myeloskleróza"]},"uk":{"name":"Гострий панмієлоз з мієлофіброзом","synonyms":["Гостра мієлодисплазія з мієлофіброзом","Гострий мієлофіброз"],"definition":"A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response."},"zh":{"name":"急性全髓增殖症伴骨髓纤维化","synonyms":["急性骨髓发育不良伴骨髓纤维化"]},"tr":{"name":"Miyelofibroz ile seyreden akut panmiyeloz","synonyms":["Akut miyelofibroz","Akut miyeloskleroz","Miyelofibroz ile seyreden akut miyelodisplazi"]}},"xrefs":[{"source":"ICD-10","code":"C94.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.38","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"585339631"},{"source":"MONDO","code":"0019455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":167714,"name":"Unclassified acute myeloid leukemia","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-12","source":"15173958[PMID]_23795280[PMID]_24192103[PMID]_30103016[PMID]","terms":[{"hpo":"HP:0011974","label":"Myelofibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012129","label":"Abnormality of bone marrow stromal cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004820","label":"Acute myelomonocytic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031386","label":"Increased micromegakaryocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031385","label":"Megakaryocyte nucleus hypolobulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}