HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22)
HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22)
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DOI：
10.1016/j.cancergencyto.2007.05.009
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发表时间：
2007-09-01
影响因子：
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通讯作者：
Sessarego, Mario
中科院分区：
文献类型：
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作者：
Aliano, Stefania;Cirmena, Gabriella;Sessarego, Mario
涉及12 q14带的染色体易位在血液病中很少检测到，并且通常与HMGA 2基因表达相关。HMGA 2在胚胎细胞生长和分化过程中高度表达，并调节转录和染色质组织，但在成人组织中很少检测到。我们描述一例真性红细胞增多症与t（12;21）（q14;q22）。使用含有HMGA 2基因3'序列的细菌人工染色体RP 11 - 366 L20，通过荧光原位杂交分析表征12 q14断裂点。定性和定量聚合酶链反应显示存在高水平的HMGA 2基因表达，这是暂时减少与羟基脲，治疗。本病例证实，12 q14带的参与可能与慢性费城染色体阴性骨髓增生性疾病中HMGA 2过表达有关，无论易位涉及的伴侣染色体如何。这种过表达可能有助于疾病的发病机制，否则其本身显示出有利和稳定的过程。(c)2007爱思唯尔公司All rights reserved.
Chromosomal translocations involving the 12q14 band are rarely detected in hematological disorders, and are usually correlated with HMGA2 gene expression. HMGA2 is highly expressed during embryonic cell growth and differentiation, and regulates transcription and chromatin organization, but is rarely detectable in adult tissues. We describe a case of polycythemia vera with a t(12;21)(q14;q22). The 12q14 breakpoint was characterized by fluorescence in situ hybridization analysis using the bacterial artificial chromosome RP11-366L20 containing 3' sequences of the HMGA2 gene. Qualitative and quantitative polymerase chain reaction showed the presence of high levels of HMGA2 gene expression, which were temporarily reduced with hydroxyurea, therapy. The present case confirms that involvement of the 12q14 band may be associated with HMGA2 overexpression in chronic Philadelphia chromosome-negative myeloproliferative disease, regardless of the partner chromosome involved in the translocation. Such overexpression may contribute to the pathogenesis of the disease, which otherwise of itself shows a favorable and stable course. (c) 2007 Elsevier Inc. All rights reserved.