Frequency of Known Gene Rearrangements in Endometrial Stromal Tumors
Frequency of Known Gene Rearrangements in Endometrial Stromal Tumors
复制标题
DOI：
10.1097/pas.0b013e3182262743
复制
发表时间：
2011-09-01
影响因子：
5.6
通讯作者：
Oliva, Esther
中科院分区：
文献类型：
--
作者：
Chiang, Sarah;Ali, Rola;Oliva, Esther
导致基因融合的易位是子宫内膜间质肿瘤（ESTs）的特征。JAZF 1、SUZ 12、PHF 1和EPC 1的重排在子宫内膜间质结节（ESN）、子宫内膜间质肉瘤（ESS）中有报道，在未分化子宫内膜肉瘤（UES）中很少报道。用荧光原位杂交技术检测JAZF 1、SUZ 12、EPC 1和PHF 1重排，并在由94个经典和变异形态的EST组成的组织微阵列上进行（20例ESN，43例原发性子宫ESS，15例转移性子宫ESS，4例原发性子宫外ESS，7例原发性子宫UES和5例未分类的EST），16例苗勒管腺瘤，2例恶性苗勒管混合瘤，2例类似卵巢性索瘤的子宫肿瘤，2例高细胞平滑肌瘤，1例平滑肌肉瘤，7例息肉样子宫内膜异位症。在78个子宫ESTs中有42个（54%）检测到重排，其中JAZF 1-SUZ 12融合在50%的ESN和33%的ESS中发现，JAZF 1-PHF 1和EPC 1-PHF 1融合分别在1%和< 1%的ESS中发现。在8个子宫EST中，PHF 1和JAZF 1与未知的伴侣发生重排。在3例子宫外ESS中发现JAZF 1-SUZ 12融合，EPC 1-PHF 1融合和PHF 1重排，而在UES或任何其他非EST研究中未观察到重排。我们的数据证实，基因重排存在于超过50%的子宫EST中，JAZF 1-SUZ 12融合是最常见的，其次是罕见的EPC 1-PHF 1和JAZF 1-PHF 1融合。在子宫和子宫外ESTs中存在相同的基因重排提示了相似的发病机制。子宫ESS中存在可检测到的基因重排可能预示着更好的患者预后。
Translocations resulting in gene fusion are characteristic of endometrial stromal tumors (ESTs). Rearrangements of JAZF1, SUZ12, PHF1, and EPC1 have been reported in endometrial stromal nodules (ESNs), endometrial stromal sarcomas (ESSs), and rarely in undifferentiated endometrial sarcomas (UESs). Detection of JAZF1, SUZ12, EPC1, and PHF1 rearrangement by fluorescence in situ hybridization was performed on tissue microarrays consisting of 94 ESTs of classic and variant morphology (20 ESNs, 43 primary uterine ESSs, 15 metastatic uterine ESSs, 4 primary extrauterine ESSs, 7 primary uterine UESs, and 5 unclassified ESTs), 16 Mullerian adenosarcomas, 2 malignant mixed Mullerian tumors, 2 uterine tumors resembling ovarian sex-cord tumors, 2 highly cellular leiomyomas, 1 leiomyosarcoma, and 7 polypoid endometriosis. Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and < 1% of ESSs, respectively. PHF1 and JAZF1 were rearranged with unknown partners in 8 uterine ESTs. JAZF1-SUZ12 fusion, EPC1-PHF1 fusion, and PHF1 rearrangement were found in 3 extrauterine ESSs, whereas no rearrangements were observed in UESs or in any other non-EST studied. Our data confirm that gene rearrangements are present in more than 50% of uterine ESTs, with JAZF1-SUZ12 fusion being the most common, followed by rare EPC1-PHF1 and JAZF1-PHF1 fusions. The presence of identical gene rearrangements in both uterine and extrauterine ESTs suggests a similar pathogenesis. The presence of detectable gene rearrangements in uterine ESS may predict better patient outcome.