title: [A case report of myelodysplastic/myeloproliferative disease unclassifiable with karyotype aberration of trisomy 8 and JAK2 mutation].
abstract: 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 micromegakaryocytes 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.
authors.affiliation: Department of Laboratory Medicine, Zhujiang Hospital, South Medical University, Guangzhou 510282, Guangdong Province, China.
authors.forename: Kun
authors.initials: K
authors.lastname: Liu
authors.forename: Chang-Xin
authors.initials: CX
authors.lastname: Ying
authors.forename: Xue-Dong
authors.initials: XD
authors.lastname: Chen
authors.forename: Xue-Yun
authors.initials: XY
authors.lastname: Zhou
authors.forename: Kun-Yuan
authors.initials: KY
authors.lastname: Guo
mesh_terms: D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007621:Karyotyping; D008875:Middle Aged; D009154:Mutation; D054437:Myelodysplastic-Myeloproliferative Diseases / Q000145:classification* / Q000235:genetics*; D014314:Trisomy
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2