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[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.
AuthorsKun Liu, Chang-Xin Ying, Xue-Dong Chen, Xue-Yun Zhou, Kun-Yuan Guo
JournalZhongguo 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
PMID23114135 (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

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