+8伴JAK2突变的骨髓增生异常/骨髓增殖性疾病不能分类1例  

A Case Report of Myelodysplastic/Myeloproliferative Disease Unclassifiable with Karyotype Aberration of Trisomy 8 and JAK2Mutation

作　　者：刘鲲[1] 阴常欣[2] 陈学东[1] 周雪云[3] 郭坤元[3] 

机构地区：[1]南方医科大学珠江医院临床检验科,广东广州510282 [2]南方医科大学南方医院血液科,广东广州510515 [3]南方医科大学珠江医院血液科,广东广州510282

出　　处：《中国实验血液学杂志》2012年第5期1139-1143,共5页Journal of Experimental Hematology

摘　　要：本研究探讨1例骨髓增生异常/骨髓增殖性疾病不能分类(MDS/MPD-U)患者的临床特征、染色体核型与JAK2基因突变发生的关系。利用骨髓组织学活检、染色体核型分析技术、ARMS-PCR等方法,观察该MDS/MPD-U患者的临床特征、染色体核型、JAK2基因突变情况。结果表明,患者骨髓有典型的小巨核细胞、血小板增多、8号染色体三体异常、JAK2 V617F基因突变。结论:该患者符合MDS/MPD-U的诊断,伴有+8,JAK2 V617F基因突变,为进一步研究染色体核型异常与JAK2 V617F基因突变两种分子事件之间的相关性及对MDS/MPD-U预后的影响提供依据。This study aimed to investigate the relationship between clinical features of myelodysplastic/myeloproliferative disease,unclassifiable（MDS/MPD-U）,karyotype of chromosome and JAK2 mutation in 1 case.The clinical features,karyotype and JAK2 mutation of the patient with MDS/MPD-U were studied by means of bone marrow biopsy,karyotype analysis and ARMS-PCR technique.The results indicated that the typical micromegkaryocytes and thrombocytosis,karyotype aberration of trisomy 8 as well as JAK2 V617F mutation were found in this patient.It is concluded that the patient was diagnosed as MDS/MPD-U with trisomy 8 and JAK2 V617F mutation.The data of this patient will provide evidence for studying correlation of chromosome karyotype aberration with JAK2 V617F mutation and for evaluating prognosis of MDS/MPD-U.

关 键 词：骨髓增生异常/骨髓增殖性疾病不能分类 8三体 JAK2 V617F突变 

分 类 号：R733.3[医药卫生—肿瘤]