Department of Urology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Department of Pathology, Zhongnan Hospital of Wuhan University, Wuhan, China.
BMC Med Genomics. 2024 Jan 2;17(1):7. doi: 10.1186/s12920-023-01776-5.
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: TP53, KMT2D, KMT2D, 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.
肝样腺癌（HAC）在泌尿系统中较为罕见，在上尿路仅有 7 例报道。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。
我们报告了一例罕见的 53 岁女性输尿管 HAC，其血清 AFP 和 CEA 水平升高，长期慢性刺激可能是导致其输尿管 HAC 的重要原因。患者接受了根治性肾输尿管切除术，术后血清 AFP 和 CEA 水平显著下降，但 9 个月后发现淋巴结转移，术后 18 个月无相关症状，未行辅助化疗。NGS 检测发现了三个癌症驱动体突变，包括：TP53、KMT2D、KMT2D，表明输尿管 HAC 具有与上尿路上皮癌相似的突变特征。该肿瘤存在同源重组缺陷（HRD），但 HRD 相关基因无突变，可能是 SETD2 基因拷贝数缺失所致。
我们报告了一例罕见的 AFP 和 CEA 水平升高的输尿管 HAC。NGS 检测表明输尿管 HAC 具有与上尿路上皮癌相似的突变特征，这为输尿管 HAC 的诊断和治疗提供了重要指导。
