文章：

巴氏腺癌：流行病学、组织病理学、分子检测与临床管理的最新研究综述

Bartholin Gland Carcinoma: A State-of-the-Art Review of Epidemiology, Histopathology, Molecular Testing, and Clinical Management

原文发布日期：28 November 2025

DOI: 10.3390/cancers17233819

类型: Article

开放获取: 是

英文摘要：

Bartholin gland carcinoma (BGC) is a rare malignancy, comprising 3–7% of vulvar cancers and <1% of gynecologic tumors. Due to its low incidence, high-level evidence is lacking, and management is largely extrapolated from vulvar cancer guidelines. This comprehensive narrative review synthesizes current evidence on BGC, emphasizing histotype-specific features, diagnostic criteria, molecular profiling, and treatment strategies. The three most common subtypes are squamous cell carcinoma, adenoid cystic carcinoma (AdCC), and adenocarcinoma. HPV-associated tumors tend to occur in younger women and carry favorable prognoses. Accurate diagnosis requires exclusion of metastases and integration of clinical, imaging, and immunohistochemical data, including p16/HPV for squamous tumors, MYB/MYBL1 fusions for AdCC, and CK20/CDX2/SATB2 for intestinal-type adenocarcinoma. Approximately 50% of cases are diagnosed at an advanced stage due to misclassification as benign cysts or abscesses. Nodal metastasis occurs in >40% of cases, with histotype influencing prognosis. Adenocarcinoma and node-positive disease independently predict worse survival. Treatment hinges on complete surgical excision with 2–3 mm margins, bilateral groin evaluation, and histology-tailored adjuvant therapy. Emerging data support the use of immune checkpoint inhibitors in squamous BGC and targeted agents (e.g., mTOR/CDK4/6 inhibitors) in adenocarcinoma. We propose a practical molecular testing algorithm and highlight the urgent need for prospective, multinational collaboration to establish BGC-specific guidelines.

摘要翻译： 

巴氏腺癌是一种罕见恶性肿瘤，占外阴癌的3-7%，在妇科肿瘤中占比不足1%。由于发病率低，缺乏高级别证据支持，其诊疗方案主要参考外阴癌指南进行推导。本综述系统整合当前巴氏腺癌研究证据，重点阐述组织亚型特征、诊断标准、分子谱分析及治疗策略。三种最常见亚型分别为鳞状细胞癌、腺样囊性癌和腺癌。HPV相关肿瘤好发于年轻女性且预后较好。准确诊断需排除转移性肿瘤，并综合临床、影像学及免疫组化数据：鳞状细胞癌需检测p16/HPV，腺样囊性癌需检测MYB/MYBL1融合基因，肠型腺癌需检测CK20/CDX2/SATB2。约50%病例因被误诊为良性囊肿或脓肿而确诊时已属晚期。超过40%病例发生淋巴结转移，组织亚型影响预后。腺癌和淋巴结阳性是生存率降低的独立预测因素。治疗核心在于实现2-3毫米切缘的完整手术切除、双侧腹股沟评估及组织学指导的辅助治疗。新近证据支持在鳞状细胞癌中使用免疫检查点抑制剂，在腺癌中应用靶向药物（如mTOR/CDK4/6抑制剂）。本文提出实用分子检测流程，并强调亟需开展前瞻性跨国合作以建立巴氏腺癌专属诊疗指南。

原文链接：

Bartholin Gland Carcinoma: A State-of-the-Art Review of Epidemiology, Histopathology, Molecular Testing, and Clinical Management