{"orpha":168953,"name":"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["8p11 myeloproliferative syndrome","Stem cell leukemia/lymphoma"],"definition":"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168953/","orphanet_url":"https://www.orpha.net/en/disease/detail/168953","names":{"fr":{"name":"Tumeur myéloïde/lymphoïde associée à un réarrangement de FGFR1","synonyms":["Syndrome myéloprolifératif 8p11"],"definition":"La tumeur myéloïde/lymphoïde associée à un réarrangement de FGFR1 est une maladie néoplasique maligne rare caractérisée par la prolifération clonale de précurseurs myéloïdes et/ou lymphoïdes porteurs de translocations ou d'insertions impliquant la bande chromosomique 8p11 et le gène <i>FGFR1</i> dans le sang, la moelle osseuse et souvent, dans d'autres tissus (rate, foie, ganglions lymphatiques, sein...). Elle se manifeste habituellement par un néoplasme myéloprolifératif avec éosinophilie, un lymphome lymphoblastique à cellules T avec éosinophilie, et plus rarement, par une leucémie myéloïde aigüe. Les signes et les symptômes de présentation incluent une éosinophilie, une leucocytose avec réaction leucémoïde, une monocytose, une fatigue, des sueurs, une perte de poids, une lymphadénopathie, une splénomégalie et/ou une hépatomégalie. L'atteinte extra-nodale peut inclure les amygdales, les poumons et le sein."},"de":{"name":"Myeloische/lymphatische Neoplasie mit assoziiertem FGFR1-Gen-Rearrangement","synonyms":["8p11-myeloproliferatives Syndrom","Stammzell-Lymphom/Leukämie"],"definition":"Myeloische/lymphatische Neoplasie mit FGFR1-Rearrangement ist eine seltene, maligne, neoplastische Erkrankung, die durch klonale Proliferation von myeloischen und/oder lymphoiden Vorstufen mit Translokationen oder Insertionen, die die Chromosomengruppe 8p11 und das FGFR1-Gen betreffen, im Blut, Knochenmark und oft auch in anderen Geweben (Milz, Leber, Lymphknoten, Brust usw.) gekennzeichnet ist. Sie zeigt sich in der Regel als myeloproliferative Neoplasie mit Eosinophilie, T-lymphoblastisches Lymphom mit Eosinophilie oder, seltener, als akute myeloische Leukämie. Zu den klinischen Zeichen und Symptomen gehören Eosinophilie, Leukozytose mit leukämischer Reaktion, Monozytose, Müdigkeit, Schwitzen, Gewichtsverlust, Lymphadenopathie, Splenomegalie und/oder Hepatomegalie. Eine extranodale Beteiligung kann die Tonsillen, die Lunge und die Brüste umfassen."},"es":{"name":"Neoplasia mieloide/linfoide asociada a un reordenamiento del gen FGFR1","synonyms":["Leucemia/linfoma de células madre","Síndrome 8p11 mieloproliferativo","Síndrome mieloproliferativo 8p11"],"definition":"Es una enfermedad, maligna y poco frecuente, caracterizada por la proliferación clonal de precursores mieloides y/o linfoides que albergan translocaciones o inserciones que implican a la banda cromosómica 8p11 y al gen <i>FGFR1</i>, en la sangre, médula ósea y, a menudo también en otros tejidos (bazo, hígado, ganglios linfáticos, mama, etc.). Por lo general, se presenta como una neoplasia mieloproliferativa con eosinofilia, linfoma linfoblástico T con eosinofilia o, con menor frecuencia, leucemia mieloide aguda. Los signos y síntomas de presentación incluyen eosinofilia, leucocitosis con reacción leucemoidea, monocitosis, fatiga, sudoración, pérdida de peso, linfadenopatía, esplenomegalia y/o hepatomegalia. La afectación extranodal puede incluir las amígdalas, los pulmones y el tejido mamario."},"it":{"name":"Neoplasia mieloide/linfoide associata a riarrangiamento di FGR1","synonyms":["Leucemia/linfoma delle cellule staminali","Sindrome mieloproliferativa 8p11"],"definition":"La neoplasia mieloide/linfoide associata al riarrangiamento di FGFR1 è una neoplasia maligna rara, caratterizzata dalla proliferazione clonale di precursori mieloidi e/o linfoidi che presentano traslocazioni o inserzioni nel cromosoma 8p11 e nel gene FGFR1, nel sangue, nel midollo osseo e spesso anche in altri tessuti (milza, fegato, linfonodi, seno, ecc.). Di solito esordisce sotto forma di neoplasia mieloproliferativa con eosinofilia, linfoma linfoblastico a cellule T con eosinofilia o, più raramente, leucemia mieloide acuta. I segni clinici d'esordio sono l'eosinofilia, la leucocitosi con reazione leucemoide, la monocitosi, l'affaticamento, la sudorazione, la perdita di peso, la linfoadenopatia, la splenomegalia e/o l'epatomegalia. È possibile il coinvolgimento di sedi extranodali come le tonsille, i polmoni e le mammelle."},"nl":{"name":"Myeloïd/lymfoïd neoplasma geassocieerd met FGFR1-herschikking","synonyms":["8p11 myeloproliferatief syndroom","Stamcelleukemie/lymfoom"],"definition":"Een zeldzame, maligne, neoplastische ziekte, gekarakteriseerd door klonale proliferatie van myeloïde en/of lymfoïde precursorcellen, die translocaties of inserties bevatten waarbij chromosoomband 8p11 en het gen <i>FGFR1</i> betrokken zijn, in bloed, beenmerg en vaak ook andere weefsels (milt, lymfeklieren, borst, etc.). Meestal presenteert de ziekte zich als myeloproliferatief neoplasma met eosinofilie, T-lymfoblastisch lymfoom met eosinofilie of, minder frequent, acute myeloïde leukemie. Symptomen omvatten eosinofilie, leukocytose met leukemoïde reactie, monocytose, vermoeidheid, zweten, gewichtsverlies, lymfadenopathie, splenomegalie en/of hepatomegalie. Extranodale betrokkenheid kan onder meer amandelen, longen en borsten omvatten."},"pt":{"name":"Neoplasia mielóides/linfóide associada a rearranjo do FGFR1"},"pl":{"name":"Nowotwory szpiku związane z rearanżacją FGFR1","synonyms":["Białaczka/chłoniak komórek macierzystych","Zespół mieloproliferacyjny 8p11"]},"cs":{"name":"Myeloidní neoplázie spojená s přestavbou FGFR1","synonyms":["Myeloproliferativní syndrom 8p11","SCLL","Leukémie/lymfom kmenových buněk"]},"uk":{"name":"Мієлоїдні/лімфоїдні новоутворення, повязані з перебудовою FGFR1","synonyms":["8p11 мієлопроліферативний синдром","Стовбурова лейкемія/лімфома"],"definition":"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts."},"zh":{"name":"FGFR1基因重排相关髓系/淋巴系肿瘤","synonyms":["8p11骨髓增生综合征"],"definition":"骨髓瘤和（或）淋巴瘤相关FGFR1基因重排是一种罕见的恶性肿瘤性疾病，其特征为骨髓和（或）淋巴前体细胞克隆性增殖，在血液、骨髓和其他组织（脾脏、肝脏、淋巴结、乳腺等）中存在染色体带的8p11和FGFR1基因的易位或插入。主要临床表现为骨髓增殖性肿瘤伴嗜酸性粒细胞增多，T淋巴细胞淋巴瘤伴嗜酸性粒细胞增多，少数表现为急性髓系白血病。症状和体征包括嗜酸性粒细胞增多、白细胞增多伴类白血病反应、单核细胞增多、易疲劳、出汗增多、体重减轻、淋巴结肿大、脾肿大和（或）肝肿大。淋巴结外可累计扁桃体、肺和乳房。"},"tr":{"name":"FGFR1 yeniden düzenlenmesiyle ilişkili miyeloid/lenfoid neoplazm","synonyms":["Kök hücreli lösemi/lenfoma","8p11 miyeloproliferatif sendrom"]}},"xrefs":[{"source":"OMIM","code":"613523","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A52","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2019647878"},{"source":"MONDO","code":"0013296","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":168943,"name":"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23489324[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}