本发明公开用于检测8p11骨髓增殖综合征(EMS)患者中BCR‑FGFR1融合基因的寡核苷酸、方法和试剂盒,其包括扩增BCR‑FGFR1融合基因的引物和探针,及内参基因abl的引物和探针。本发明可快速检测EMS患者体内是否存在BCR‑FGFR1融合基因及其表达量的多少。利用本发明完成的检测结果准确,灵敏,可辅助诊断骨髓增至综合征,确定...
其中以与13q12易位产生的ZMYM2-FGFR1最为常见,而由t(8;22)(p11;q11)易位产生的BCR-FGFR1病例非常罕见。研究发现,不同的融合基因会导致不同的疾病表型:例如t(8;13)(p11;q12)/ ZMYM2-FGFR1往往会导致髓系/T淋巴细胞肿瘤[11];t(8;9)...
该患者最初出现体重减轻和疲劳症状,全血细胞计数结果显示白细胞增多和嗜酸性粒细胞增多,初步诊断为非特异性骨髓增殖性疾病。在进一步的下一代测序研究中,检测到了BCR::FGFR1重排,因此确诊为伴有嗜酸性粒细胞增多和BCR::FGFR1重排的骨髓/淋巴肿瘤。患者随后开始接受羟基脲治疗。然而,病情进一步发展,出现了皮质T淋巴细胞白...
Constitutive activation of FGFR1, as a result of diverse chromosome translocations, is the hallmark of stem cell leukemia/lymphoma syndrome. The BCR-FGFR1 variant is unique in that the BCR component contributes a serine-threonine kinase (STK) to the N-terminal end of the chimeric FGFR1 kinase. ...
摘要 本发明公开用于检测8p11骨髓增殖综合征(EMS)患者中BCR-FGFR1融合基因的寡核苷酸、方法和试剂盒,其包括扩增BCR-FGFR1融合基因的引物和探针,及内参基因abl的引物和探针。本发明可快速检测EMS患者体内是否存在BCR-FGFR1融合基因及其表达量的多少。利用本发明完成的检测结果准确,灵敏,可辅助诊断骨髓增至综合征,确定融合...
GeorgiaHaiyanGeorgiaQinGeorgiaChang-ShengGeorgiaChangGeorgiaEikoGeorgiaKitamuraGeorgiaMingqiangGeorgiaBritish Journal of HaematologyCowell JK, Qin H, Chang CS, et al. A model of BCR-FGFR1 driven human AML in immunocompromised mice. Br J Haematol. 2016;175(3):542-545. doi:10.1111/bjh.13877. PubMed...
BCRFGFR1tyrosine kinase inhibitorsObjectivesTranslocations involving the fibroblast growth factor receptor 1 (FGFR1) gene are associated with the 8p11 myeloproliferative syndrome (EMS), a rare neoplasm that following a usually short chronic phase progresses into acute myeloid or lymphoid leukemia. The ...
Cases with t(8;22)(p11;q11) BCR-FGFR1 fusion gene may be misdiagnosed with chronic myeloid leukemia (CML), due to a very similar morphologic and clinical profile. We report a case of 48-year-old woman who complained of weakness and gastric pain. She had splenomegaly, eosinophilia, and ...
A fourth case of BCR-FGFR1 positive CML-like disease with t(8;22) translocation showing an exten- sive deletion on the derivative chromosome 8p. Hematol J 2002;3:315-6.Pini M, Gottardi E, Scaravaglio P, Giugliano E, Libener R, Baraldi A, Muzio A, Cornaglia E, Saglio G, Levis A...
A case of acute myelogenous leukaemia characterised by the BCR-FGFR1 translocation. BMJ Case Rep. 2013;2013. doi:10.1136/bcr-2013-008834. PubMed PMID: 23519513; PubMed Central PMCID: PMCPmc3618816. eng.Matikas A, Tzannou I, Oikonomopoulou D, et al. A case of acute mye- logenous ...