種々の原発癌や再発癌の治療を行ったLi-Fraumeni症候群の1例
症例は50代女性．父親が30代前半に胃癌を発症し数年で死去している．本人は34歳時に右乳癌，36歳時に子宮頸癌，37歳時に右肺癌（Stage 3B），39歳時に左乳癌，左側胸部軟部肉腫（悪性線維性組織球症）を発症，42歳で肺癌術後の胸膜再発をきたしたが薬物療法により現在完全奏功を得た．44歳時に脳腫瘍，45歳S状結腸癌＋直腸癌を発症，その後左腋窩リンパ節転移，46歳左乳癌の局所再発，48歳時に右鎖骨上リンパ節転移に対し放射線治療を受けた．主治医変更を契機にリー・フラウメニ症候群（Li-Fraumeni syndrome；LFS），Cowden症候群，遺伝性乳癌卵巣癌などの遺伝性腫瘍が疑われ，遺...
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| Published in | 遺伝性腫瘍 Vol. 24; no. 3; pp. 185 - 190 |
|---|---|
| Main Authors | , , , , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本遺伝性腫瘍学会
31.01.2025
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2435-6808 |
| DOI | 10.18976/jsht.24.3_185 |
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| Abstract | 症例は50代女性．父親が30代前半に胃癌を発症し数年で死去している．本人は34歳時に右乳癌，36歳時に子宮頸癌，37歳時に右肺癌（Stage 3B），39歳時に左乳癌，左側胸部軟部肉腫（悪性線維性組織球症）を発症，42歳で肺癌術後の胸膜再発をきたしたが薬物療法により現在完全奏功を得た．44歳時に脳腫瘍，45歳S状結腸癌＋直腸癌を発症，その後左腋窩リンパ節転移，46歳左乳癌の局所再発，48歳時に右鎖骨上リンパ節転移に対し放射線治療を受けた．主治医変更を契機にリー・フラウメニ症候群（Li-Fraumeni syndrome；LFS），Cowden症候群，遺伝性乳癌卵巣癌などの遺伝性腫瘍が疑われ，遺伝学的検査でTP53の病的バリアントを認めLFSと診断された．LFSなどの遺伝性腫瘍の患者は多くの医学的問題や心理的・社会的負担を抱えており，啓発活動や患者支援体制の構築が急務であると考えられた． |
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| AbstractList | 症例は50代女性．父親が30代前半に胃癌を発症し数年で死去している．本人は34歳時に右乳癌，36歳時に子宮頸癌，37歳時に右肺癌（Stage 3B），39歳時に左乳癌，左側胸部軟部肉腫（悪性線維性組織球症）を発症，42歳で肺癌術後の胸膜再発をきたしたが薬物療法により現在完全奏功を得た．44歳時に脳腫瘍，45歳S状結腸癌＋直腸癌を発症，その後左腋窩リンパ節転移，46歳左乳癌の局所再発，48歳時に右鎖骨上リンパ節転移に対し放射線治療を受けた．主治医変更を契機にリー・フラウメニ症候群（Li-Fraumeni syndrome；LFS），Cowden症候群，遺伝性乳癌卵巣癌などの遺伝性腫瘍が疑われ，遺伝学的検査でTP53の病的バリアントを認めLFSと診断された．LFSなどの遺伝性腫瘍の患者は多くの医学的問題や心理的・社会的負担を抱えており，啓発活動や患者支援体制の構築が急務であると考えられた． |
| Author | 南, 華子 立花, 和之進 菅野, 康吉 勝部, 暢介 大竹, 徹 野水, 整 渡邉, 尚文 長塚, 美樹 平田, 真 岡野, 舞子 松嵜, 正實 小針, 大輝 片方, 直人 |
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| References | 1) Li FP, Fraumeni JF Jr: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969; 71: 747–752. 4) Mai PL, Best AF, Peters JA, et al.: Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer 2016; 122: 3673-3681. 12) Cirauqui B, Morán T, Estival A, et al.: Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management. Case Rep Oncol 2020; 13: 130–138. 14) Kappel S, Janschek E, Wolf B, et al.: TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family. Breast Cancer Res Treat 2015; 151: 671–678. 15) Schuler N, Palm J, Schmitz S, et al.: Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome. Clin Transl Radiat Oncol 2017; 7: 71–78. 18) Kratz CP, Achatz MI, Brugières L, et al.: Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res 2017; 23: e38–e45. 11) Schneider K, Zelley K, Nichols KN, et al.: Li-Fraumeni Syndrome. GeneReviews® [Internet]. [cited 2024 Mar 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1311 2) Sbaraglia M, Bellan E, Dei Tos AP: The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives. Pathologica 2021; 113: 70–84. 3) 「小児期に発症する遺伝性腫瘍に対するゲノム医療体制実装のための研究」班：リー・フラウメニ症候群の診療ガイドライン．2019 年度版 ver1.1，2020．https://minds.jcqhc.or.jp/summary/c00607 17) Villani A, Shore A, Wasserman JD, et al.: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 2016; 17 :1295–1305. 5) Guha T, Malkin D: Inherited TP53 Mutations and the Li-Fraumeni Syndrome. Cold Spring Harb Perspect Med 2017; 7: a026187. 7) National Center for Biotechnology Information: ClinVer. [cited 2024 Mar 20]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000012374.58 13) Jia Y, Ali SM, Saad S, et al.: Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. Cancer Biol Ther 2014; 15: 970–974. 10) Kuba MG, Lester SC, Bowman T, et al.: Histopathologic features of breast cancer in Li-Fraumeni syndrome. Mod Pathol 2021; 34: 542–548. 9) Wilson JRF, Bateman AC, Hanson H, et al.: A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet 2010; 47: 771–774. 8) Richards S, Aziz N, Bale S, et al.: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424. 16) Petry V, Bonadio RC, Testa L, et al.: A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53). Breast 2023; 68: 157–162. 6) Chompret A, Abel A, Stoppa-Lyonnet D, et al.: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001; 38: 43–47. |
| References_xml | – reference: 3) 「小児期に発症する遺伝性腫瘍に対するゲノム医療体制実装のための研究」班：リー・フラウメニ症候群の診療ガイドライン．2019 年度版 ver1.1，2020．https://minds.jcqhc.or.jp/summary/c00607/ – reference: 9) Wilson JRF, Bateman AC, Hanson H, et al.: A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet 2010; 47: 771–774. – reference: 1) Li FP, Fraumeni JF Jr: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969; 71: 747–752. – reference: 7) National Center for Biotechnology Information: ClinVer. [cited 2024 Mar 20]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000012374.58 – reference: 14) Kappel S, Janschek E, Wolf B, et al.: TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family. Breast Cancer Res Treat 2015; 151: 671–678. – reference: 12) Cirauqui B, Morán T, Estival A, et al.: Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management. Case Rep Oncol 2020; 13: 130–138. – reference: 6) Chompret A, Abel A, Stoppa-Lyonnet D, et al.: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001; 38: 43–47. – reference: 10) Kuba MG, Lester SC, Bowman T, et al.: Histopathologic features of breast cancer in Li-Fraumeni syndrome. Mod Pathol 2021; 34: 542–548. – reference: 13) Jia Y, Ali SM, Saad S, et al.: Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. Cancer Biol Ther 2014; 15: 970–974. – reference: 17) Villani A, Shore A, Wasserman JD, et al.: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 2016; 17 :1295–1305. – reference: 16) Petry V, Bonadio RC, Testa L, et al.: A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53). Breast 2023; 68: 157–162. – reference: 5) Guha T, Malkin D: Inherited TP53 Mutations and the Li-Fraumeni Syndrome. Cold Spring Harb Perspect Med 2017; 7: a026187. – reference: 2) Sbaraglia M, Bellan E, Dei Tos AP: The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives. Pathologica 2021; 113: 70–84. – reference: 4) Mai PL, Best AF, Peters JA, et al.: Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer 2016; 122: 3673-3681. – reference: 8) Richards S, Aziz N, Bale S, et al.: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424. – reference: 11) Schneider K, Zelley K, Nichols KN, et al.: Li-Fraumeni Syndrome. GeneReviews® [Internet]. [cited 2024 Mar 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1311/ – reference: 15) Schuler N, Palm J, Schmitz S, et al.: Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome. Clin Transl Radiat Oncol 2017; 7: 71–78. – reference: 18) Kratz CP, Achatz MI, Brugières L, et al.: Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res 2017; 23: e38–e45. |
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| Snippet | 症例は50代女性．父親が30代前半に胃癌を発症し数年で死去している．本人は34歳時に右乳癌，36歳時に子宮頸癌，37歳時に右肺癌（Stage 3B），39歳時に左乳癌，左側胸部軟... |
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| SubjectTerms | TP53 リー・フラウメニ症候群（Li-Fraumeni syndrome；LFS） 若年性乳癌 遺伝性腫瘍 |
| Title | 種々の原発癌や再発癌の治療を行ったLi-Fraumeni症候群の1例 |
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