伴有t(9;22)(p24;q11.2)（一种BCR-JAK2融合基因）的骨髓增生异常综合征：病例报告及文献复习
Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature.
作者信息
Kantarcioglu Bulent, Kaygusuz-Atagunduz Isik, Uzay Ant, Toptas Tayfur, Tuglular Tulin Firatli, Bayik Mahmut
机构信息
Division of Hematology, Department of Internal Medicine, Istanbul Medipol University, Istanbul, Turkey,
出版信息
Int J Hematol. 2015 Sep;102(3):383-7. doi: 10.1007/s12185-015-1792-2. Epub 2015 Apr 2.
The human JAK2 gene is mainly targeted by two types of genetic lesions that play roles in the pathogenesis of hematologic malignancies: intragenic mutations and chromosomal translocations. Chromosomal translocations of JAK2 are typically associated with myeloid or lymphoid malignancies with an aggressive course and poor outcome. Here we report a t(9;22)(p24;q11.2) translocation, in a MDS patient and review results associated with BCR-JAK2 fusion reported in the literature.
人类JAK2基因主要受到两种在血液系统恶性肿瘤发病机制中起作用的基因损伤影响：基因内突变和染色体易位。JAK2染色体易位通常与病程侵袭性强、预后差的髓系或淋巴系恶性肿瘤相关。在此，我们报告了1例骨髓增生异常综合征（MDS）患者发生的t(9;22)(p24;q11.2)易位，并回顾了文献中报道的与BCR-JAK2融合相关的结果。
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