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Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1139-43.

[A case report of myelodysplastic/myeloproliferative disease unclassifiable with karyotype aberration of trisomy 8 and JAK2 mutation].

[Article in Chinese]

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Department of Laboratory Medicine, Zhujiang Hospital, South Medical University, Guangzhou 510282, Guangdong Province, China.


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.

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