髓系肉瘤12例临床分析

Clinical analysis of 12 cases with myeloid sarcoma

目的探讨髓系肉瘤(MS)的临床特点,提高对MS的认识。方法回顾性分析2015年1月至2021年6月就诊于山西医科大学第二医院的12例确诊为MS患者临床表现、诊疗经过及生存状况,采用Kaplan-Meier法进行生存分析。结果12例中,男性8例,女性4例,中位年龄42岁(24~66岁)。发病部位以骨骼、软组织最易受累,分别为10、6例,其次为皮肤、淋巴结和中枢神经系统。免疫组织化学检测,多数患者表现为MPO、CD117、Ki-67、CD34、CD99、Lys、CD43、LCA、CD68、CD163阳性。8例患者行分子生物学和细胞遗传学检测,其中基因异常7例(ASXL1突变3例,JAK2和TET2突变各2例),染色体异常4例。以联合治疗为主;局部肿瘤切除5例,化疗10例,放疗2例,造血干细胞移植5例。3例失访,其余9例患者纳入生存分析,中位随访7个月(1~72个月),5例死亡,4例生存。结论MS多伴随其他血液相关疾病,可涉及多部位;临床诊断主要依靠组织病理联合免疫分型。对确诊的MS患者进行规律化疗联合造血干细胞移植是主要治疗手段。

Objective To investigate the clinical characteristics of myeloid sarcoma(MS)and to improve the understanding of MS.Methods The clinical manifestations,diagnosis,treatment and survival of 12 MS patients in the Second Hospital of Shanxi Medical University between January 2015 and June 2021 were retrospectively analyzed,and the survival analysis was performed by using Kaplan-Meier method.Results All 12 patients included 8 males and 4 females,with the median age of 42 years(24-66 years).Bone(10 cases)and soft tissue(6 cases)were the most easily involved sites,followed by skin,lymph nodes and central nervous system.Immunohistochemistry results showed that MPO,CD117,Ki-67,CD34,CD99,Lys,CD43,LCA,CD68 and CD163 were positive.Molecular biology and cytogenetic tests were performed in 8 patients,including 7 cases of gene abnormalities(3 cases of ASXL1 mutation,2 cases of JAK2 mutation,2 cases of TET2 mutation),and 4 cases of chromosome abnormalities.Therapy regimen was predominantly the combined treatment;5 patients received local tumor resection,10 patients received chemotherapy,2 patients received radiotherapy and 5 patients received hematopoietic stem cell transplantation.Finally,3 cases lost the follow-up,and the left 9 cases were included in the survival analysis with the median follow-up time of 7 months(1-72 months);5 cases died,and 4 cases survived.Conclusions MS may involve multiple sites and is accompanied by other blood related diseases.The clinical diagnosis mainly depends on histopathology combined with immunophenotyping.Regular chemotherapy combined with hematopoietic stem cell transplantation is the main treatment regimen for MS.