A case report of myelodysplastic/myeloproliferative disease unclassifiable with karyotype aberration of trisomy 8 and JAK2 mutation.
- Author:
Kun LIU
1
;
Chang-Xin YING
;
Xue-Dong CHEN
;
Xue-Yun ZHOU
;
Kun-Yuan GUO
Author Information
1. Department of Laboratory Medicine, Zhujiang Hospital, South Medical University, Guangzhou 510282, Guangdong Province, China.
- Publication Type:Case Reports
- MeSH:
Chromosomes, Human, Pair 8;
Female;
Humans;
Janus Kinase 2;
genetics;
Karyotyping;
Middle Aged;
Mutation;
Myelodysplastic-Myeloproliferative Diseases;
classification;
genetics;
Trisomy
- From:
Journal of Experimental Hematology
2012;20(5):1139-1143
- CountryChina
- Language:Chinese
-
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.
