Embryonal rhabdomyosarcoma of the uterine cervix (cERMS) is rare and frequently associated with DICER1 mutations. We report 94 tumors that arose in patients aged 7 to 59 (median=23) years and presented with vaginal bleeding (52), protruding vaginal mass (17), cervical polyp (8), or expelled tumor fragments per vagina (5). Nine had DICER1 syndrome, 8 of whom had other syndromic manifestations including ovarian Sertoli-Leydig cell tumor (7), multinodular goiter (3), pleuropulmonary blastoma (2), pineoblastoma (1), and osteosarcoma (1). Syndromic patients were younger than nonsyndromic patients (16 vs. 24 y). Tumor size ranged from 2 to 24 (median=4.5) cm. Ninety-two tumors were polypoid, most being grape-like (77 of 92). They were characterized by aggregates of primitive cells, almost always exhibiting a cambium layer, within a variably myxoedematous stroma and were hypocellular (63), moderately cellular (22), or hypercellular (9). Entrapped glands, typically scant, were present in 84 tumors. Primitive hyperchromatic ovoid to spindled cells with minimal cytoplasm predominated but differentiated rhabdomyoblasts with abundant eosinophilic cytoplasm (having cross-striations in 30) were seen in 83 tumors; they were often sparse but predominated in three. Nine tumors showed areas of intersecting fascicles and 4 zones with densely cellular (solid) growth. Cartilage was present in 38. Anaplasia was seen in 15 tumors, as was necrosis. Mitotic activity ranged from 1 to 58/10 high-power fields (median=8). The varied microscopic features resulted in a spectrum of differential diagnostic considerations, mainly typical and cellular forms of fibroepithelial polyps, Mullerian adenosarcoma, and other sarcomas. Follow-up was available for 79 patients ranging from 6 to 492 (median=90) months. Treatment information was available in 62 and included polypectomy in 6 patients (2 also received chemotherapy), limited resection in 26 (14 also received chemotherapy), hysterectomy in 29 (15 with adjuvant chemotherapy), and biopsies only in 1 (with chemotherapy). Staging was possible in 56 tumors; according to the “uterine sarcoma” system (tumor size and extent) they were: stage I (10/56; could not be further subclassified as size not available), IA (22/56), IB (18/56), IIA (2/56), IIB 3/56), IIIC (1/56). According to the “adenosarcoma” system (depth of invasion and extent) they were: stage IA (26/56), IB (14/56), IC (10/56), IIA (2/56), IIB (3/56), IIIC (1/56). Eight patients had local recurrence following incomplete excision (10%). Eleven of 79 patients had extrauterine recurrences (14%) and 9 died of disease (11%). Older age was associated with extrauterine recurrence (median 44 vs. 22; P=0.002) and decreased disease-specific survival (median 44 vs. 22; P=0.02). For patients with tumors initially confined to the cervix, the adenosarcoma staging system was superior to the uterine sarcoma staging system for predicting survival (P=0.02). Three patients with DICER1 syndrome who underwent fertility-preserving surgery developed a second primary cERMS 7, 7, and 12 years after their primary tumor. All 9 patients with DICER1 syndrome had tumors confined to the cervix and none died of disease. This study highlights the intriguing clinical aspects of cERMS including its long-known tendency to occur in the young but also more recently appreciated association with DICER1 syndrome. Establishing the diagnosis may still be difficult because of the hazard of sampling a neoplasm which in areas may appear remarkably bland and also because of its potential confusion with other neoplasms. This study indicates that this tumor has a good prognosis at this site and in selected cases a conservative surgical approach is a realistic consideration.

子宫颈胚胎性横纹肌肉瘤 (cERMS) 很少见，通常与DICER1相关突变。我们报告了 94 例肿瘤，这些肿瘤发生在 7 至 59 岁（中位数 = 23）岁的患者中，表现为阴道出血（52 例）、阴道突出肿块（17 例）、宫颈息肉（8 例）或每个阴道排出的肿瘤碎片（5 例）。9 人患有 DICER1 综合征，其中 8 人有其他综合征表现，包括卵巢支持细胞瘤 (7)、多结节性甲状腺肿 (3)、胸膜肺母细胞瘤 (2)、松果体母细胞瘤 (1) 和骨肉瘤 (1)。综合征患者比非综合征患者更年轻（16 岁对 24 岁）。肿瘤大小范围为 2 至 24（中位数 = 4.5）厘米。92 例肿瘤呈息肉状，大多数呈葡萄状（92 例中有 77 例）。它们的特征是原始细胞聚集，几乎总是在粘液水肿的间质内形成形成层，并且是低细胞 (63)、中等细胞 (22) 或多细胞 (9)。被困的腺体，通常很少，存在于 84 个肿瘤中。在 83 个肿瘤中可见原始的深染卵圆形至梭形细胞，细胞质最少，但分化的横纹肌母细胞具有丰富的嗜酸性细胞质（30 个具有交叉条纹）；他们通常很稀疏，但在三个人中占主导地位。九个肿瘤显示出交叉束的区域和 4 个具有密集细胞（实心）生长的区域。38 例存在软骨。15 例肿瘤出现间变和坏死。有丝分裂活动范围为 1 至 58/10 个高倍视野（中位数 = 8）。不同的微观特征导致了一系列鉴别诊断考虑因素，主要是纤维上皮息肉、苗勒管腺肉瘤和其他肉瘤的典型和细胞形式。对 79 名患者进行了为期 6 到 492（中位数 = 90）个月的随访。62 例患者的治疗信息可用，其中包括 6 例患者进行息肉切除术（2 例还接受了化疗）、26 例患者进行了有限切除术（14 例还接受了化疗）、29 例患者进行了子宫切除术（15 例进行了辅助化疗）和仅进行了活组织检查的 1 例（进行了化疗）。56 个肿瘤可以进行分期；根据“子宫肉瘤”系统（肿瘤大小和范围），它们是：I 期（10/56；由于大小不详无法进一步细分）、IA (22/56)、IB (18/56)、IIA (2/56)，IIB 3/56)，IIIC (1/56)。根据“腺肉瘤”系统（浸润深度和范围）分别为：IA期（26/56）、IB期（14/56）、IC期（10/56）、IIA期（2/56）、IIB期（3/ 56), IIIC (1/56)。8 名患者在不完全切除后出现局部复发 (10%)。79 名患者中有 11 名出现宫外复发 (14%)，9 名死于疾病 (11%)。P =0.002) 和疾病特异性生存率降低（中位数 44 对 22；P =0.02）。对于肿瘤最初局限于宫颈的患者，腺肉瘤分期系统在预测生存方面优于子宫肉瘤分期系统（P = 0.02）。三名接受生育保留手术的DICER1综合征患者在其原发肿瘤发生后 7、7 和 12 年发生了第二原发性 cERMS。所有 9名 DICER1综合征患者的肿瘤都局限于子宫颈，没有人死于疾病。这项研究突出了 cERMS 有趣的临床方面，包括它长期以来在年轻人中发生的趋势，但最近也受到重视与DICER1的关联综合征。建立诊断可能仍然很困难，因为对在某些区域可能看起来非常温和的肿瘤进行取样的危险，也因为它可能与其他肿瘤混淆。这项研究表明，该肿瘤在该部位具有良好的预后，在选定的病例中，保守的手术方法是一种现实的考虑。