Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
Am J Surg Pathol. 2011 Sep;35(9):1364-72. doi: 10.1097/PAS.0b013e3182262743.
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 Müllerian adenosarcomas, 2 malignant mixed Müllerian 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.
导致基因融合的易位是子宫内膜间质肿瘤（ESTs）的特征。JAZF1、SUZ12、PHF1 和 EPC1 的重排已在子宫内膜间质结节（ESNs）、子宫内膜间质肉瘤（ESSs）中报道，在未分化的子宫内膜肉瘤（UESs）中很少见。在由 94 例经典和变异形态的 EST 组成的组织微阵列上进行了 JAZF1、SUZ12、EPC1 和 PHF1 重排的荧光原位杂交检测（20 例 ESNs、43 例原发性子宫 ESSs、15 例转移性子宫 ESSs、4 例原发性子宫外 ESSs、7 例原发性子宫 UESs 和 5 例未分类的 ESTs）、16 例 Müllerian 腺肉瘤、2 例恶性混合 Müllerian 肿瘤、2 例类似于卵巢性索肿瘤的子宫肿瘤、2 例高细胞性平滑肌瘤、1 例平滑肌肉瘤和 7 例息肉状子宫内膜异位症。在 78 例子宫 EST 中，有 42 例（54%）检测到重排，其中 ESNs 中 50%和 ESSs 中 33%发现 JAZF1-SUZ12 融合，而 ESSs 中 1%和<1%分别发现 JAZF1-PHF1 和 EPC1-PHF1 融合。在 8 例子宫 EST 中，PHF1 和 JAZF1 与未知伴侣重排。在 3 例子宫外 ESS 中发现 JAZF1-SUZ12 融合、EPC1-PHF1 融合和 PHF1 重排，而 UESs 或任何其他非 EST 中均未观察到重排。我们的数据证实，基因重排在超过 50%的子宫 EST 中存在，其中 JAZF1-SUZ12 融合最为常见，其次是罕见的 EPC1-PHF1 和 JAZF1-PHF1 融合。在子宫和子宫外 EST 中存在相同的基因重排表明存在相似的发病机制。在子宫 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。
