Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors
Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors
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DOI：
10.1073/pnas.101132598
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发表时间：
2001-05-22
影响因子：
11.1
通讯作者：
Sklar, J
中科院分区：
文献类型：
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作者：
Koontz, JI;Soreng, AL;Sklar, J
子宫内膜间质瘤分为良性间质结节、子宫内膜间质肉瘤和未分化子宫内膜肉瘤三种类型。在子宫内膜间质肉瘤中有多种涉及7号染色体的细胞遗传学异常的报道，包括复发性t(7;17)（p15;q21）。我们在7p15和17q21的断点上发现了两个锌指基因，我们将其命名为JAZF1和JJAZ1。肿瘤RNA分析表明，JAZF1/JJAZ1融合存在于所有类型的子宫内膜间质肿瘤中；然而，融合在子宫内膜间质肉瘤中似乎更罕见，根据某些分类方案，子宫内膜间质肉瘤被认为是高级别的。这些发现表明，恶性程度较低的子宫内膜间质瘤可能向恶性程度较高的类型进化，但一些具有相对丰富的有丝分裂活性的子宫内膜间质肉瘤可能构成一个生物学上不同的群体。
Endometrial stromal tumors are divided into three types: benign stromal nodules, endometrial stromal sarcomas, and undifferentiated endometrial sarcomas. A variety of cytogenetic abnormalities involving chromosome 7 have been reported in endometrial stromal sarcomas, including a recurrent t(7;17)(p15;q21). We have identified two zinc finger genes, which we have termed JAZF1 and JJAZ1, at the sites of the 7p15 and 17q21 breakpoints. Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors; however, the fusion appears to be rarer among endometrial stromal sarcomas that would be considered high-grade according to certain classification schemes. These findings suggest that the less malignant endometrial stromal tumors may evolve toward more malignant types, but that some endometrial stromal sarcomas with relatively abundant mitotic activity may compose a biologically distinct group.