Yin Xin, Li Xiaoqing, Li Muli, She Qing, Liu Yan, Chen Xiaodan, Ma Suhua, Ma Qian, Huang Zhangkan, Xu Lin, Huang Xiaozhun, Zhan Zhengyin, Che Xu
Department of Hepatobiliary Surgery, National Cancer Center, National Clinical Research Center for Cancer, Cancer Hospital and Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Department of Pathology, National Cancer Center, National Clinical Research Center for Cancer, Cancer Hospital and Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Front Med (Lausanne). 2022 May 24;9:891958. doi: 10.3389/fmed.2022.891958. eCollection 2022.
Extramammary Paget's disease (EMPD) is a rare cutaneous neoplasm with distant metastases and a poor prognosis. We report the case of a 63-year-old male patient exhibiting stage IV primary EMPD with neuroendocrine differentiation, and harboring a somatic mutation in AMER1. After four cycles of Anlotinib combined with Tislelizumab, the patient achieved partial response for the metastatic lesions according to mRECIST1.1 criteria. Total positron emission tomography and computed tomography (PET-CT) scans revealed a significant reduction in SUV from 18.9 to 5.3, and the serum CEA decreased to normal levels after the treatment regimen. However, the patient developed fractures of the fourth and fifth thoracic vertebrae during the treatment. Therefore, percutaneous vertebroplasty was performed, and the patient experienced severe postoperative pneumonia and died from pulmonary encephalopathy and respiratory failure in June 2021. The overall and progression-free survival of the patient after diagnosis were 9 and 8 months, respectively. During the systemic treatment, the patient suffered grade 1 rash in the back and thigh and grade 1 hypertension. Nevertheless, the combination treatment of anlotinib and tislelizumab had a favorable clinical outcome and provided a survival advantage, and should be considered a therapeutic option for patients with AMER1-mutant metastatic EMPD.
乳房外佩吉特病（EMPD）是一种罕见的皮肤肿瘤，可发生远处转移，预后较差。我们报告了一例63岁男性患者，患有伴神经内分泌分化的IV期原发性EMPD，且AMER1基因存在体细胞突变。经四个周期的安罗替尼联合替雷利珠单抗治疗后，根据mRECIST1.1标准，患者的转移病灶获得部分缓解。全身正电子发射断层扫描和计算机断层扫描（PET-CT）显示，标准化摄取值（SUV）从18.9显著降至5.3，治疗后血清癌胚抗原（CEA）降至正常水平。然而，患者在治疗期间出现了第四和第五胸椎骨折。因此，进行了经皮椎体成形术，患者术后发生严重肺炎，并于2021年6月死于肺性脑病和呼吸衰竭。患者诊断后的总生存期和无进展生存期分别为9个月和8个月。在全身治疗期间，患者背部和大腿出现1级皮疹，并有1级高血压。尽管如此，安罗替尼和替雷利珠单抗的联合治疗取得了良好的临床效果，并提供了生存优势，应被视为AMER1突变型转移性EMPD患者的一种治疗选择。
