An 83-year-old man underwent comprehensive genomic profiling (Guardant360® CDx) during treatment for liver metastasis after surgery for rectal leiomyosarcoma. The results showed four kinds of TP53 pathogenic variants with different allele frequencies (P152L 53.12%, Y220C 0.9%, G266E 0.39%, F270L 0.16%). As the patient had a medical history of six malignant tumors, including gastric cancer at age 56 and colorectal cancer, TP53 P152L, with an allele frequency of 50% or more, was disclosed as a presumed germline pathogenic variant. After genetic counseling, a single-site test detected a pathogenic germline variant, and the patient was diagnosed with Li-Fraumeni syndrome. This case was really difficult to detect Li-Fraumeni syndrome using the clinical diagnostic criteria, and was diagnosed as having it after undergoing comprehensive genomic profiling. Therefore, we recognize the necessity for confirmatory testing even in elderly people.
"},{"@language":"ja","@value":"症例は83歳，男性．直腸平滑筋肉腫術後の肝転移に対し，がん遺伝子パネル検査（Guardant360® CDx）を施行された．その結果，アレル頻度の異なる4種類のTP53病的バリアント（P152L 53.12%，Y220C 0.9%，G266E 0.39%，F270L 0.16%）が検出された．胃癌（56歳）をはじめとして大腸癌など計6病変の悪性腫瘍の既往があり，アレル頻度が50％以上であったTP53 P152Lが生殖細胞系列病的バリアントと考えられた．遺伝カウンセリングを実施後のシングルサイト検査で病的バリアントが検出され，Li-Fraumeni症候群と診断した．本症例は臨床的な診断基準で拾い上げることが難しかったが，がん遺伝子パネル検査が診断の契機となった．体細胞病的バリアントが多いTP53においても確認検査の必要性が高いと判断した高齢者の1例として報告する．
"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410301949908044034","@type":"Researcher","foaf:name":[{"@language":"ja","@value":"塚本 汐奈"},{"@language":"en","@value":"Tsukamoto Sena"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Medical Oncology and Chemotherapy, Takamatsu Red Cross Hospital"},{"@language":"ja","@value":"高松赤十字病院 腫瘍内科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044035","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Nishiuchi Takamasa"},{"@language":"ja","@value":"西内 崇将"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"高松赤十字病院 腫瘍内科"},{"@language":"en","@value":"Department of Medical Oncology and Chemotherapy, Takamatsu Red Cross Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044038","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Kita Ikuhiro"},{"@language":"ja","@value":"喜田 行洋"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"香川大学医学部 臨床腫瘍学"},{"@language":"en","@value":"Department of Medical Oncology, Faculty of Medicine, Kagawa University"},{"@language":"ja","@value":"香川大学医学部附属病院 がんセンター"},{"@language":"en","@value":"Cancer Center, Kagawa University Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044037","@type":"Researcher","foaf:name":[{"@language":"ja","@value":"奥山 浩之"},{"@language":"en","@value":"Okuyama Hiroyuki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Cancer Center, Kagawa University Hospital"},{"@language":"ja","@value":"香川大学医学部附属病院 がんセンター"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044033","@type":"Researcher","foaf:name":[{"@language":"ja","@value":"檜井 孝夫"},{"@language":"en","@value":"Hinoi Takao"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"広島大学病院 遺伝子診療科"},{"@language":"en","@value":"Department of Genetic Medicine, Hiroshima University Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044036","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Kumamoto Kensuke"},{"@language":"ja","@value":"隈元 謙介"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"香川大学医学部 ゲノム医科学・遺伝医学"},{"@language":"en","@value":"Department of Genomic Medicine and Medical Genetics, Faculty of Medicine, Kagawa University"}]},{"@id":"https://cir.nii.ac.jp/crid/1410301949908044032","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Tsuji Akihito"},{"@language":"ja","@value":"辻 晃仁"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"香川大学医学部 臨床腫瘍学"},{"@language":"en","@value":"Department of Medical Oncology, Faculty of Medicine, Kagawa University"},{"@language":"en","@value":"Cancer Center, Kagawa University Hospital"},{"@language":"ja","@value":"香川大学医学部附属病院 がんセンター"}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"24356808"}],"prism:publicationName":[{"@language":"en","@value":"Journal of Hereditary Tumors"},{"@language":"ja","@value":"遺伝性腫瘍"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society for Hereditary Tumors"},{"@language":"ja","@value":"一般社団法人 日本遺伝性腫瘍学会"}],"prism:publicationDate":"2024-10-25","prism:volume":"24","prism:number":"2","prism:startingPage":"161","prism:endingPage":"165"},"url":[{"@id":"https://search.jamas.or.jp/link/ui/2025088683"}],"availableAt":"2024-10-25","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=%3Ci%3ETP53%3C/i%3E","dc:title":"TP53"},{"@id":"https://cir.nii.ac.jp/all?q=Li-Fraumeni%E7%97%87%E5%80%99%E7%BE%A4","dc:title":"Li-Fraumeni症候群"},{"@id":"https://cir.nii.ac.jp/all?q=%E3%81%8C%E3%82%93%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB","dc:title":"がん遺伝子パネル検査"},{"@id":"https://cir.nii.ac.jp/all?q=%3Ci%3ETP53%3C/i%3E","dc:title":"TP53"},{"@id":"https://cir.nii.ac.jp/all?q=Li-Fraumeni%20syndrome","dc:title":"Li-Fraumeni syndrome"},{"@id":"https://cir.nii.ac.jp/all?q=comprehensive%20genomic%20profiling","dc:title":"comprehensive genomic profiling"}],"dataSourceIdentifier":[{"@type":"JALC","@value":"oai:japanlinkcenter.org:2013417683"}]}