Zhu Bosen, Liu Ming, Mu Tianhao, Li Wentao, Ren Junqi, Li Xiangtao, Liang Yi, Yang Ziyi, Niu Yulin, Chen Shifu, Lin Junqiong
Department of Gastroenteroanal Surgery, The Second Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Research and Development Division, HaploX Biotechnology, Shenzhen, China.
Front Oncol. 2024 Jun 4;14:1382154. doi: 10.3389/fonc.2024.1382154. eCollection 2024.
The incidence of multiple primary tumors(MPTs) is on the rise in recent years, but patients having four or more primary tumors is still rare. Lynch syndrome (LS) patients have a high risk of developing MPTs. NGS sequencing could identify the genetic alterations in different tumors to make a definite diagnosis of uncommon cases in clinical practice. Here, we report the case of a 66-year-old female patient who develops four MPTS between the ages of 41 and 66, that is sigmoid colon cancer, acute non-lymphocytic leukemia, urothelial carcinoma and ascending colon cancer. She has survived for more than 26 years since the first discovery of tumor. Targeted sequencing indicates that she has a pathogenic germline mutation in the exon 13 of , and her 2020 ureteral cancer sample and 2023 colon cancer sample have completely different mutation profiles. To the best of our knowledge, this is the first case of multiple primary tumors with an acute non-lymphocytic leukemia in LS patients.
近年来，多原发性肿瘤（MPTs）的发病率呈上升趋势，但患有四个或更多原发性肿瘤的患者仍然罕见。林奇综合征（LS）患者发生MPTs的风险很高。二代测序（NGS）可以识别不同肿瘤中的基因改变，从而在临床实践中对罕见病例做出明确诊断。在此，我们报告一例66岁女性患者，她在41岁至66岁之间发生了四种MPTs，即乙状结肠癌、急性非淋巴细胞白血病、尿路上皮癌和升结肠癌。自首次发现肿瘤以来，她已存活超过26年。靶向测序表明她在 外显子13中有一个致病的种系突变，并且她2020年的输尿管癌样本和2023年的结肠癌样本具有完全不同的突变谱。据我们所知，这是首例LS患者发生多原发性肿瘤合并急性非淋巴细胞白血病的病例。
