t(14;18)阴性滤泡性淋巴瘤的分子遗传学机制及研究进展

Molecular Genetic Pathogenesis and Research Advances in Follicular Lymphoma without t(14;18) Translocation

  • 摘要: 滤泡性淋巴瘤(FL)是生发中心起源的低级别B细胞非霍奇金淋巴瘤。最具特征性的遗传学改变是染色体14q32上的免疫球蛋白重链基因(IgH)和染色体18q21上的Bcl-2基因的平衡转位,形成t(14;18)(q32;q21)。此转位使Bcl-2蛋白过度表达。在功能上延长了细胞的生存时间并导致FL的形成。t(14;18)并不是出现于所有FL病例中,大约90%的FL存在t(14;18),其余的FL未能检测到该转位。t(14;18)的存在与否与滤泡性淋巴瘤的发生和发展密切相关。

     

    Abstract: Follicular lymphoma ( FL ) is a low-grade B-cell non-Hodgkin's lymphoma of germinal center origin. The genetic hallmark of FL is the chromosomal translocation between the immunoglobulin heavy-chain gene on chromosome 18 and the Bcl-2 gene on chromosome 14. The resultant t ( 14;18 ) ( q32;q21 ) leads to the constitutive overexpression of Bcl-2 protein. Functionally, this phenomenon results in the prolongation of cell survival and lymphomagenesis. However, the translocation of t ( 14;18 ) is not present in all FL cases. Approximately 90% of all FLs carry this characteristic alteration; in the remaining cases, t ( 14; 18 ) is not detectable. The presence or absence of t ( 14; 18 ) is closely linked to the occurrence and development of FLs.

     

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