类似卵巢性索肿瘤的子宫肿瘤伴淋巴结转移1例并文献复习

A Case of Uterine Tumor Resembling Ovarian Sex Cord Tumor with Lymph Node Metastasis and Literature Review

摘要: 目的：探讨类似卵巢性索肿瘤的子宫肿瘤的临床特点、病理免疫组化特点、诊断、治疗及预后，提高对该疾病的临床认知。方法：回顾性分析1例UTROSCT伴淋巴结转移的临床资料，复习相关文献并整理分析。结果：UTROSCT是一种起源于具有性索分化的子宫内膜基质细胞的子宫间叶肿瘤，发病机制可能与核受体共激活因子NCOA1-3基因的重排相关，其临床表现及影像学检查等均无特异性，患者多因异常子宫出血就诊，影像学表现与子宫肌瘤等相似，诊断主要依靠病理及免疫组化检查，镜下病理可见多种组织特征，以片状、条索状排列为主，免疫组化可见性索标志物阳性，也可同时表达上皮、肌源及激素受体标记，基因分子上常伴有乳腺癌雌激素调控因子(GREB1)和雌激素受体1 (ESR1)重排。目前UTROSCT治疗以手术为主，依据患者年龄及生育要求可选择性子宫切除或保留子宫的病灶局部切除。总体预后良好，呈低度恶性潜能，少数患者手术后可出现转移及晚期复发，肿瘤的恶性行为与组织坏死程度及显著的核分裂活性有关，基质PD-L1的高表达和GREB1-NCOA2基因改变也与UTROSCT的侵袭性有关，对术后患者建议终身随访。结论：UTROSCT是一类罕见的潜在恶性的子宫肿瘤，因其临床表现、影像学检查等均无明显特异性，需要依靠充分取材的病理及分子检查明确诊断。治疗一般采取手术方式，建议行全子宫 ± 双附件切除，经严格筛选的部分年轻且有生育意愿的患者可行保留子宫的病灶切除术，术后建议终身随访，对于复发转移患者可个体化化疗或激素治疗。

Abstract: Objective: To explore the clinical features, pathological and immunohistochemical characteristics, diagnosis, treatment and prognosis of uterine tumors similar to ovarian sex cord tumors, and to improve the clinical knowledge of this disease. Methods: The clinical data of one case of UTROSCT with lymph node metastasis were retrospectively analyzed, and relevant literature was reviewed and organized for analysis. Results: UTROSCT has no specificity in clinical manifestations and imaging examinations, and the patient mostly consults the doctor because of abnormal uterine bleeding, and the imaging manifestations are similar to those of uterine fibroids, etc. The diagnosis mainly relies on pathological and immunohistochemical examinations, and the microscopic pathology reveals a variety of tissue features, with a predominantly lamellar and striated arrangement, and immunohistochemistry reveals the positivity of gonadotropic markers, and also expresses markers of epithelium, myogenesis and hormone receptors, and the genes are often accompanied with breast cancer molecularly often accompanied by breast cancer estrogen regulatory factor (GREB1) and estrogen receptor 1 (ESR1) rearrangement. The malignant behavior of this tumor is known to be associated with necrosis and significant nuclear fission activity, and high stromal PD-L1 expression and NCOA2 gene alterations are also associated with the invasiveness of UTROSCT. Currently, the treatment of UTROSCT is mainly surgical, with selective hysterectomy or local excision of the lesion with uterine preservation based on the patient’s age and fertility requirements; metastasis and late recurrence can occur in a few patients after surgery, and lifelong follow-up is recommended after surgery. Conclusion: UTROSCT is a rare and potentially malignant uterine tumor, which has no obvious specificity in clinical manifestations and imaging examinations, and needs to be diagnosed by pathological and molecular examinations with adequate sampling. Treatment is generally surgical, and total hysterectomy ± double adnexa resection is recommended. Some young patients with fertility intention can be treated with hysterectomy with uterus preservation after strict screening, and life-long follow-up is recommended after surgery, and patients with recurrent metastasis can be treated with individualized chemotherapy or hormone therapy.