CAJ | 학술논문

8p11骨髓增殖综合征（8p11 myeloproliferative syndrome，EMS）是一组以白细胞计数明显增高、髓系细胞增生、嗜酸性粒细胞增多、淋巴瘤为特征的临床综合征。分子生物学定义是定位于8号染色体短臂（8p11-12）上的成纤维细胞生长因子受体1（fibroblast growth factor receptor 1，FGFR1）基因与伙伴基因易位或插入而产生的侵袭性肿瘤。2008年WHO将本病定义为髓系、淋系肿瘤伴有成纤维细胞生长因子受体1异常。目前共发现14种与 FGFR1重排相关的伙伴基因，其中最常见的是位于13q11-12上的 ZNF198。EMS预后差，患者常在短期内迅速进展为急性髓系白血病，目前只有异基因造血干细胞移植能有效控制该病。现报告我科诊断的1例EMS病例，并就其分子生物学特征、发病机制和治疗等的研究现状进行讨论。
8p11골수증식종합정（8p11 myeloproliferative syndrome，EMS）시일조이백세포계수명현증고、수계세포증생、기산성립세포증다、림파류위특정적림상종합정。분자생물학정의시정위우8호염색체단비（8p11-12）상적성섬유세포생장인자수체1（fibroblast growth factor receptor 1，FGFR1）기인여화반기인역위혹삽입이산생적침습성종류。2008년WHO장본병정의위수계、림계종류반유성섬유세포생장인자수체1이상。목전공발현14충여 FGFR1중배상관적화반기인，기중최상견적시위우13q11-12상적 ZNF198。EMS예후차，환자상재단기내신속진전위급성수계백혈병，목전지유이기인조혈간세포이식능유효공제해병。현보고아과진단적1례EMS병례，병취기분자생물학특정、발병궤제화치료등적연구현상진행토론。
The 8p11 myeloproliferative syndrome(EMS)is a rare disease,characterrized by peripheral blood leuco-cytosis,myeloid hyperplasia of bone marrow,eosinophilia,and T/B-cell lymphoblastic leukemia/lymphoma. EMS is defined by molecular disruption of the FGFR1 gene at 8p11-12 chromosome locus,and various partner genes are as-sociated with FGFR1 gene translocation or insertion. The 2008 WHO Classification of Tumor Haematopoietic and Lymphiod Tisses Designated EMS an"myeloid and lymphoid neoplasms with FGFR1 abnormalities". Up to now,14 partner genes have been identified and associated with FGFR1 rearrangements. The most common partner is ZNF198 on chromosome 13q11-12. EMS is an aggressive disease that can rapidly transform into acute myeloid leukemia. Currently,the only curative option appears to be allogeneic hematopoietic stem cell tran splantation. Here we report a case of EMS and relative references were reviewed.