胃肠道间质瘤睾丸转移1例报告并文献复习

Testicular metastasis of gastrointestinal stromal tumor: a case report and literature review

摘要

目的 总结胃肠道间质瘤（GIST）睾丸转移的临床特点及病理学诊断要点，以提高临床对该病的诊断和治疗。方法 回顾性分析锦州医科大学附属第一医院泌尿外科收治的1例 GIST 睾丸转移患者的临床资料，包括病史、影像学检查、手术过程及病理特点，并结合相关文献进行系统复习与综合分析，总结 GIST 睾丸转移的临床特点、诊断方法及治疗策略。结果 患者男性，83岁，因右阴囊包块1年余入院，既往曾于9年前接受 GIST 切除术。影像学检查提示右阴囊巨大囊实性肿物，磁共振成像（MRI）增强显示病灶内出血及不均匀强化。行右睾丸肿物切除术，术中见大量血性液体及血块。术后病理示梭形细胞肿瘤，免疫组化CD117（+）、DOG-1（+）、CD34（+）、S100（-）、SMA（-）、Ki-67阳性率约5%，诊断为恶性 GIST 睾丸转移。患者术后恢复良好，随访1年未见复发。通过检索PubMed、Web of Science及中国知网等数据库，共纳入国内外相关病例9例进行分析，结果显示该类患者多为中老年男性，组织学类型以梭形细胞型为主，临床表现以无痛性阴囊肿块或阴囊肿胀为主，部分患者伴有既往 GIST 病史。免疫表型多表现为CD117及CD34阳性，部分病例同时表达 DOG-1，转移部位多累及鞘膜、精索或附睾等睾丸外结构。结论 GIST 睾丸转移极为罕见，缺乏特异性的临床及影像学表现，主要依赖病理及免疫组化检查确诊。对有 GIST 病史并出现阴囊肿块的患者，应考虑转移性病变的可能性，尽早手术有助于明确诊断并指导后续随访。

Abstract

Objective To summarize the clinical characteristics and key pathological diagnostic features of testicular metastasis of gastrointestinal stromal tumor (GIST), in order to improve the clinical diagnosis and treatment of this condition. Methods A retrospective analysis was conducted on the clinical data of one patient with testicular metastasis of GIST treated in our hospital, including medical history, imaging examinations, surgical procedures, and pathological features. In addition, a systematic review and comprehensive analysis of relevant literature were performed to summarize the clinical characteristics, diagnostic methods, and treatment strategies. Results The patient was an 83-year-old male who was admitted due to a right scrotal mass for more than one year with a history of GIST resection 9 years previously. Imaging examinations revealed a large cystic-solid mass in the right scrotum, and contrast-enhanced magnetic resonance imaging (MRI) demonstrated intralesional hemorrhage and heterogeneous enhancement. A right testicular tumor resection was performed, during which a large amount of bloody fluid and blood clots were observed. Postoperative pathological examination showed a spindle cell tumor. Immunohistochemistry revealed positivity for CD117, DOG-1, and CD34, and negativity for S100 and SMA, with a Ki-67 proliferation index of approximately 5%, leading to the diagnosis of malignant GIST with testicular metastasis. The patient recovered well after surgery, and no recurrence was observed during 1-year follow-up. A literature search was conducted using PubMed, Web of Science, and China National Knowledge Infrastructure (CNKI), with a total of 9 relevant cases identified. The results showed that most patients were middle-aged or elderly males, with spindle cell type as the predominant histological subtype. Clinically, the majority presented with painless scrotal masses or scrotal swelling, and some patients had a prior history of GIST. Immunohistochemically, most cases were positive for CD117 and CD34, with some also expressing DOG-1. Metastatic lesions mainly involved extratesticular structures, including the tunica vaginalis, spermatic cord, and epididymis. Conclusion Testicular metastasis of GIST is extremely rare and lacks specific clinical and imaging features. Diagnosis mainly relies on pathological and immunohistochemical examination. For patients with a history of GIST who present with a scrotal mass, the possibility of metastatic disease should be considered. Early surgical intervention may help establish the diagnosis and guide subsequent follow-up.

关键词

胃肠道间质瘤 / 睾丸转移 / 睾丸肿瘤

Key words

gastrointestinal stromal tumor / testicular metastasis / testicular tumor

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