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 | Kun Liu, Chang-Xin Ying, Xue-Dong Chen, Xue-Yun Zhou, Kun-Yuan Guo |
Journal | Zhongguo shi yan xue ye xue za zhi
(Zhongguo Shi Yan Xue Ye Xue Za Zhi)
Vol. 20
Issue 5
Pg. 1139-43
(Oct 2012)
ISSN: 1009-2137 [Print] China |
PMID | 23114135
(Publication Type: Case Reports, English Abstract, Journal Article)
|
Chemical References |
- JAK2 protein, human
- Janus Kinase 2
|
Topics |
- Chromosomes, Human, Pair 8
- Female
- Humans
- Janus Kinase 2
(genetics)
- Karyotyping
- Middle Aged
- Mutation
- Myelodysplastic-Myeloproliferative Diseases
(classification, genetics)
- Trisomy
|