Yoshihama Tomoko, Hirasawa Akira, Sugano Kokichi, Yoshida Teruhiko, Ushiama Mineko, Ueki Arisa, Akahane Tomoko, Nanki Yoshiko, Sakai Kensuke, Makabe Takeshi, Yamagami Wataru, Susumu Nobuyuki, Kameyama Kaori, Kosaki Kenjiro, Aoki Daisuke
Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558 Japan.
Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.
There has been a rapid advance in germline multigene panel testing by next-generation sequencing, and it is being widely used in clinical settings. A 56-year-old woman suspected of having Lynch syndrome was identified as a pathogenic variant carrier by multigene panel testing. The patient was diagnosed with endometrial cancer at the age of 39 years, and total laparoscopic hysterectomy and bilateral salpingectomy were performed at the age of 49 years; however, bilateral oophorectomy was not performed at that time. As she had a family history of colorectal cancer and a history of endometrial cancer, Lynch syndrome was suspected. However, germline multigene panel testing revealed a pathogenic variant rather than pathogenic variants in mismatch repair genes. In this case, with conventional genetic risk assessment, we were unable to determine whether the patient had a high risk of hereditary breast and ovarian cancer; thus, germline multigene panel testing may provide valuable information to improve disease management strategies for patients in clinical settings. Particularly, germline multigene panel testing may be useful for detecting hereditary tumor syndromes if a patient does not present with a typical family history of cancer.
通过下一代测序进行的生殖系多基因panel检测取得了快速进展，并在临床环境中得到广泛应用。一名56岁疑似患有林奇综合征的女性通过多基因panel检测被确定为致病变异携带者。该患者39岁时被诊断为子宫内膜癌，49岁时进行了全腹腔镜子宫切除术和双侧输卵管切除术；然而，当时未进行双侧卵巢切除术。由于她有结直肠癌家族史和子宫内膜癌病史，怀疑患有林奇综合征。然而，生殖系多基因panel检测显示存在一种致病变异，而非错配修复基因中的致病变异。在这种情况下，采用传统的遗传风险评估，我们无法确定该患者是否有遗传性乳腺癌和卵巢癌的高风险；因此，生殖系多基因panel检测可能为改善临床环境中患者的疾病管理策略提供有价值的信息。特别是，如果患者没有典型的癌症家族史，生殖系多基因panel检测可能有助于检测遗传性肿瘤综合征。
