Shimozawa Yuki, Yasuda Yosuke, Sugawara Emiko, Oki Ryosuke, Takemura Kosuke, Urasaki Tetsuya, Fujiwara Ryo, Numao Noboru, Yonese Junji, Yuasa Takeshi
Department of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo Japan.
Department of Pathology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo Japan.
IJU Case Rep. 2025 May 26;8(4):361-364. doi: 10.1002/iju5.70040. eCollection 2025 Jul.
The prognosis of unresectable metastatic adrenocortical carcinoma is very poor. We report a case of Lynch syndrome accompanying metastatic adrenocortical carcinoma treated with pembrolizumab.
A 73-year-old woman was diagnosed with left adrenocortical carcinoma and multiple lung, liver, and lymph node metastases. First-line mitotane therapy failed due to toxicity and progressive disease. Immunohistochemical analysis of mismatch repair proteins revealed an MSH6 deficiency. Pembrolizumab monotherapy was started for microsatellite instability-high/mismatch repair-deficient malignant disease. After the first administration, we experienced temporal clinical findings considered to reflect the collapse of tumors. She gained remarkable reductions in all lesions after four cycles. Genetic analysis disclosed the germline pathogenic variant of , so this case was diagnosed as Lynch syndrome.
We report a patient with metastatic adrenocortical carcinoma in Lynch syndrome who demonstrated an excellent response to pembrolizumab. Genetic analyses can play a beneficial role in cases of adrenocortical carcinoma.
无法切除的转移性肾上腺皮质癌预后很差。我们报告一例伴有转移性肾上腺皮质癌的林奇综合征患者接受帕博利珠单抗治疗的病例。
一名73岁女性被诊断为左肾上腺皮质癌并伴有多发肺、肝和淋巴结转移。一线米托坦治疗因毒性反应和疾病进展而失败。错配修复蛋白的免疫组化分析显示MSH6缺陷。开始使用帕博利珠单抗单药治疗微卫星高度不稳定/错配修复缺陷的恶性疾病。首次给药后，我们观察到一些暂时的临床症状，认为反映了肿瘤的消退。四个周期后，她所有病灶均显著缩小。基因分析发现了 的种系致病变异，因此该病例被诊断为林奇综合征。
我们报告了一例林奇综合征伴转移性肾上腺皮质癌患者，其对帕博利珠单抗表现出良好反应。基因分析在肾上腺皮质癌病例中可发挥有益作用。
