Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular characteristics, differential diagnosis, clinical treatment and prognosis of mixed carcinoma of cervix with adenoid cystic pattern. Methods: Three cases of mixed cervical carcinoma with adenoid cystic pattern were collected at the Affiliated Hospital of Xuzhou University Medical School from 2018 to 2021.The clinicopathological characteristics were analyzed, immunohistochemistry (IHC) and in situ hybridization (ISH) were performed. The related literature was reviewed. Results: The three patients were postmenopausal women with a median age of 74.7 years. The clinical symptom was vaginal bleeding without obvious causes. One case was an endophytic tumor, and the others were exophytic. The median diameter of the three cases was 3.3 cm. Two patients underwent hysterectomy, the tumors infiltrated the external 1/3 and middle 1/3 of the cervix respectively. All the lymph nodes were negative. One patient had a previous biopsy. Microscopically, all three tumors were characterized by a cribriform structure, which were filled with basophilic myxoid substance and surrounded by tubules lined by two layers of cells. The tumor cells had scanty cytoplasm and showed the characteristics of cervical basal-like cells. All three cases were accompanied by high-grade squamous intraepithelial lesions and squamous cell carcinoma, and one also showed a non-specific spindle cell sarcomatoid component. Within the double-layered epithelial structure, the outer epithelium was positive for p63, CD117, p16INK4a (clone E6H4) and MYB protein and negative for S-100 by IHC. The combined positive score of PD-L1 (clone 22C3) was less than 1 in all three cases. Human papillomavirus (HPV) types 16 and 18 were detected in one patient preoperatively, while high-risk HPV were positive in the other two patients by RNAscope ISH postoperatively. None of the three cases showed MYB gene rearrangement by FISH. The mean follow-up time was 23.3 months (36, 28 and 6 months, respectively). Two patients underwent hysterectomy and radiotherapy survived without disease. One patient survived with tumor just by radiotherapy and drug therapy. Conclusions: Mixed cervical carcinoma with adenoid cystic pattern is extremely rare. It is a high-grade malignancy with poor prognosis. The tumor is associated with high-risk HPV infection, without MYB gene rearrangement, and with low PD-L1 immunoreactivity. Radical surgery combined with radiotherapy and chemotherapy is the mainstay of treatment at present.
目的： 探讨宫颈伴有腺样囊性癌的混合型癌临床病理特征、免疫表型、分子特征、诊断及鉴别诊断、临床治疗和预后。 方法： 收集2018—2021年徐州医科大学附属医院收治的3例宫颈伴有腺样囊性癌的混合型癌临床及病理资料，并行免疫组织化学及原位杂交检测，复习相关文献。 结果： 患者均为绝经后老年女性，平均年龄74.7岁。临床症状为无明显诱因阴道出血。1例为内生性肿瘤，2例为外生性肿瘤，平均直径3.3 cm。2例行根治性手术，浸润宫颈外1/3层、中1/3层，淋巴结均未见转移性癌；1例患者仅行组织活检。镜下观察，3例以筛状结构为特征，筛孔内充满嗜碱性黏液样物质，周围有双层细胞排列的小管状结构，瘤细胞胞质少，具有宫颈基底样细胞特点。3例均合并高级别鳞状上皮内病变及鳞状细胞癌，其中1例同时合并有非特异梭形细胞肉瘤样成分。免疫表型上，p63免疫组织化学可显示双层上皮结构，外层上皮阳性，但S-100蛋白标记外层上皮呈阴性，CD117、p16INK4a（克隆号E6H4）和MYB蛋白检测阳性；3例PD-L1（克隆号22C3）肿瘤伴随诊断综合阳性评分均小于1。1例患者术前检测人乳头状瘤病毒（HPV）16、18型感染，另2例术后组织切片RNAscope原位杂交检测示高危型HPV感染。采用断裂分离探针荧光原位杂交检测3例均未显示MYB基因重排。随访时间平均23.3个月（分别为36、28和6个月）。2例行手术及放射治疗，无病生存。1例仅行放射及药物治疗，带瘤生存。 结论： 宫颈伴有腺样囊性癌的混合型癌临床极为罕见，恶性程度高，预后差。肿瘤与高危型HPV感染相关，无MYB基因重排，且具低PD-L1免疫反应性。根治性手术加放化疗目前仍是主要治疗方法。.