The Genetic Deletion of 6q21 and PRDM1 and Clinical Implications in Extranodal NK/T Cell Lymphoma, Nasal Type.

The Genetic Deletion of 6q21 and PRDM1 and Clinical Implications in Extranodal NK/T Cell Lymphoma, Nasal Type.
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6q21 和 PRDM1 的基因缺失及其在结外 NK/T 细胞淋巴瘤(鼻型)中的临床意义

DOI:
10.1155/2015/435423
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发表时间:
2015
影响因子:
--
通讯作者:
Li T
Li T
中科院分区:
生物学3区
文献类型:
--
作者:
Liang L;Zhang Z;Wang Y;Nong L;Zheng Y;Qu L;Zhang B;Li T

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6 q21基因缺失在鼻型结源性NK/T细胞淋巴瘤(EN-NK/T-NT)中常见,PRDM 1被认为是候选基因。然而,PRDM 1缺失的直接检测还没有很好的记录。应用荧光原位杂交技术(FISH)检测了43例EN-NK/T-NT患者及其细胞系6 q21和PRDM 1基因的遗传学改变。免疫组化和Western blot检测PRDM 1的表达。分析PRDM 1表达与基因改变的相关性及其临床病理意义。43例EN-NK/T-NT中24例(55.81%)存在6 q21和/或PRDM 1杂合性缺失,其中6 q21缺失16例(37.21%),PRDM 1缺失19例(44.19%)。类似地,在NK 92和NKL细胞中鉴定了6 q21和PRDM 1的杂合共缺失。6 q21和/或PRDM 1的杂合性缺失与PRDM 1表达相关。6 q21和/或PRDM 1基因缺失与EN-NK/T-NT的临床病理特征无关,而PRDM 1的表达对EN-NK/T-NT患者的疾病部位、B症状、临床分期等预后有积极影响。因此,在EN-NK/T-NT中经常检测到6 q21和/或PRDM 1的杂合缺失,并且与PRDM 1的下调相关。但基因缺失的预后作用需要在更大的队列中进一步评估。
6q21 genetic deletion has been frequently detected in extranodal NK/T cell lymphoma, nasal type (EN-NK/T-NT), and PRDM1 is considered as candidate gene. However, direct detection of PRDM1 deletion has not been well documented. We investigated genetic alterations of 6q21 and PRDM1 in 43 cases of EN-NK/T-NT and cell lines by FISH. PRDM1 expression was evaluated by immunohistochemistry and Western blot. The correlation between genetic alteration and PRDM1 expression and the significance in clinic-pathologic were analyzed. Heterozygous deletion of 6q21 and/or PRDM1 was observed in 24 of 43 cases (55.81%) of EN-NK/T-NT including 16 cases (37.21%) for 6q21 deletion and 19 cases (44.19%) for PRDM1 deletion. Similarly, heterozygous codeletion of 6q21 and PRDM1 was identified in NK92 and NKL cells. The heterozygous deletion of 6q21 and/or PRDM1 was correlated with PRDM1 expression. However, genetic deletion of 6q21 and/or PRDM1 was not correlated with clinicopathological features of EN-NK/T-NT, while PRDM1 expression showed positive effect on the outcome of patients as those as disease site, B symptom, and clinical stage. Thus, heterozygous deletion of 6q21 and/or PRDM1 was frequently detected in EN-NK/T-NT and correlated with downregulation of PRDM1. But the prognostic role of genetic deletion needs to be further evaluated in larger cohort.
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