PDF(Pubmed)
Abstract：
Hepatoid adenocarcinoma (HAC) is rare in the urinary system, with only 7 reported cases in upper urinary tract. This report aimed to explore the genetic characteristics of ureteral HAC for first time, and to describe the treatment prognosis of ureteral HAC.
We present a rare case of ureteral HAC in a 53-year-old female, showing elevated serum levels of AFP and CEA, prolonged chronic irritation may be an important cause of her ureteral HAC. Radical nephroureterectomy was performed, the serum levels of AFP and CEA decreased significantly, and metastasis in lymph nodes was found at 9 months after surgery, she had no related symptoms after 18 months postoperatively without adjuvant chemotherapy. Three driver somatic mutations in cancer were identified by NGS testing, including: TP53D281H, KMT2DL1211Ifs*2, KMT2DT1843Nfs*5, demonstrating that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma. Homologous-recombination deficiency (HRD) was positive in this tumor with no mutations in HRD-related genes, which was possibly induced by the copy number deletion of SETD2 gene.
We report a rare case of ureteral HAC with elevated serum levels of AFP and CEA. NGS testing demonstrated that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma, which is an important guide for the diagnosis and treatment of ureteral HAC.
We present a rare case of ureteral HAC in a 53-year-old female, showing elevated serum levels of AFP and CEA, prolonged chronic irritation may be an important cause of her ureteral HAC. Radical nephroureterectomy was performed, the serum levels of AFP and CEA decreased significantly, and metastasis in lymph nodes was found at 9 months after surgery, she had no related symptoms after 18 months postoperatively without adjuvant chemotherapy. Three driver somatic mutations in cancer were identified by NGS testing, including: TP53D281H, KMT2DL1211Ifs*2, KMT2DT1843Nfs*5, demonstrating that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma. Homologous-recombination deficiency (HRD) was positive in this tumor with no mutations in HRD-related genes, which was possibly induced by the copy number deletion of SETD2 gene.
We report a rare case of ureteral HAC with elevated serum levels of AFP and CEA. NGS testing demonstrated that ureteral HAC has the similar mutational features to upper tract urothelial carcinoma, which is an important guide for the diagnosis and treatment of ureteral HAC.
摘要：
背景：肝样腺癌（HAC）在泌尿系统中很少见，上尿路仅报告7例。本报告旨在首次探讨输尿管HAC的遗传特征。并描述输尿管HAC的治疗预后。
方法：我们介绍了一例罕见的53岁女性输尿管HAC病例，显示血清AFP和CEA水平升高，长期的慢性刺激可能是她的输尿管HAC的重要原因。行根治性肾输尿管切除术，血清AFP和CEA水平明显下降，术后9个月发现淋巴结转移，术后18个月未进行辅助化疗,患者无相关症状.通过NGS测试确定了癌症中的三个驱动体细胞突变，包括:TP53D281H,KMT2DL1211Ifs*2，KMT2DT1843Nfs*5，表明输尿管HAC具有与上尿路尿路上皮癌相似的突变特征。同源重组缺陷（HRD）在该肿瘤中呈阳性，HRD相关基因无突变，这可能是由SETD2基因的拷贝数缺失引起的。
结论：我们报告了一例罕见的输尿管HAC患者血清AFP和CEA水平升高。NGS测试表明，输尿管HAC具有与上尿路上皮癌相似的突变特征，是输尿管HAC诊断和治疗的重要指南。
方法：我们介绍了一例罕见的53岁女性输尿管HAC病例，显示血清AFP和CEA水平升高，长期的慢性刺激可能是她的输尿管HAC的重要原因。行根治性肾输尿管切除术，血清AFP和CEA水平明显下降，术后9个月发现淋巴结转移，术后18个月未进行辅助化疗,患者无相关症状.通过NGS测试确定了癌症中的三个驱动体细胞突变，包括:TP53D281H,KMT2DL1211Ifs*2，KMT2DT1843Nfs*5，表明输尿管HAC具有与上尿路尿路上皮癌相似的突变特征。同源重组缺陷（HRD）在该肿瘤中呈阳性，HRD相关基因无突变，这可能是由SETD2基因的拷贝数缺失引起的。
结论：我们报告了一例罕见的输尿管HAC患者血清AFP和CEA水平升高。NGS测试表明，输尿管HAC具有与上尿路上皮癌相似的突变特征，是输尿管HAC诊断和治疗的重要指南。
