A case of Lynch syndrome diagnosed by microsatellite instability test performed as universal screening
A 56-year-old male was admitted for surgery for transverse colon cancer. The patient had no paternal family history because his father died in an accident in his 40s. The patient underwent right hemi-colectomy. The histological diagnosis was moderately differentiated tubular adenocarcinoma （tub2>...
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| Published in | JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 2; pp. 72 - 76 |
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| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
The Japanese Society for Hereditary Tumors
2019
一般社団法人日本遺伝性腫瘍学会 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1346-1052 2189-6674 |
| DOI | 10.18976/jsft.19.2_72 |
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| Abstract | A 56-year-old male was admitted for surgery for transverse colon cancer. The patient had no paternal family history because his father died in an accident in his 40s. The patient underwent right hemi-colectomy. The histological diagnosis was moderately differentiated tubular adenocarcinoma （tub2>por1）, pT2pN0cM0 pStage I （Japanese Classification of Colorectal Carcinoma, 8th edition）. Microsatellite instability （MSI） test demonstrated the tumor to be MSI-High. Genetic testing revealed a pathogenic mutation in MSH6 and Lynch syndrome was diagnosed. Although the patient did not meet the Amsterdam Criteria II or the revised Bethesda guidelines, universal screening by MSI test led to the diagnosis of Lynch syndrome. Universal screening is useful to identify potential Lynch syndrome patients. |
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| AbstractList | A 56-year-old male was admitted for surgery for transverse colon cancer. The patient had no paternal family history because his father died in an accident in his 40s. The patient underwent right hemi-colectomy. The histological diagnosis was moderately differentiated tubular adenocarcinoma （tub2>por1）, pT2pN0cM0 pStage I （Japanese Classification of Colorectal Carcinoma, 8th edition）. Microsatellite instability （MSI） test demonstrated the tumor to be MSI-High. Genetic testing revealed a pathogenic mutation in MSH6 and Lynch syndrome was diagnosed. Although the patient did not meet the Amsterdam Criteria II or the revised Bethesda guidelines, universal screening by MSI test led to the diagnosis of Lynch syndrome. Universal screening is useful to identify potential Lynch syndrome patients.
MSI（microsatellite instability）検査によるユニバーサルスクリーニングを契機に発見された，リンチ症候群の1例を経験したので報告する．患者は56歳，男性．便潜血陽性のため施行された下部内視鏡検査で横行結腸癌と診断された．家族歴は，父親が40歳代で事故死しており，父方の情報が全く得られなかった．母方の血縁者に癌罹患者は認められなかった．結腸右半切除術を施行し，病理学的検査結果は中分化管状腺癌，pT2pN0cM0 pStageⅠであった．ユニバーサルスクリーニングとして行ったMSI検査の結果は，MSI-H（MSI-High）であった．遺伝学的検査でMSH6に病的変異を認め，リンチ症候群と診断された．術後5年経過し，無再発生存中である．本症例は，アムステルダム基準Ⅱと改訂ベセスダガイドラインを明確に満たさなかったが，MSI検査から確定診断につなげることができた．ユニバーサルスクリーニングは，両基準非該当症例におけるリンチ症候群の拾い上げに有用と考えられた． A 56-year-old male was admitted for surgery for transverse colon cancer. The patient had no paternal family history because his father died in an accident in his 40s. The patient underwent right hemi-colectomy. The histological diagnosis was moderately differentiated tubular adenocarcinoma （tub2>por1）, pT2pN0cM0 pStage I （Japanese Classification of Colorectal Carcinoma, 8th edition）. Microsatellite instability （MSI） test demonstrated the tumor to be MSI-High. Genetic testing revealed a pathogenic mutation in MSH6 and Lynch syndrome was diagnosed. Although the patient did not meet the Amsterdam Criteria II or the revised Bethesda guidelines, universal screening by MSI test led to the diagnosis of Lynch syndrome. Universal screening is useful to identify potential Lynch syndrome patients. |
| Author | Ohsumi, Shozo Hori, Shinichiro Sekine, Shigeki Kobatake, Takaya Matsuyama, Yumi Teramoto, Norihiro Ochiai, Ryoji Kaneko, Keika Okamura, Miki Sugano, Kokichi Kobayashi, Naruyuki |
| Author_FL | 堀 伸一郎 寺本 典弘 Kobayashi Naruyuki 落合 亮二 Kobatake Takaya 関根 茂樹 金子 景香 菅野 康吉 岡村 弥妃 松山 裕美 大住 省三 |
| Author_FL_xml | – sequence: 1 fullname: Kobayashi Naruyuki – sequence: 2 fullname: 落合 亮二 – sequence: 3 fullname: Kobatake Takaya – sequence: 4 fullname: 金子 景香 – sequence: 5 fullname: 松山 裕美 – sequence: 6 fullname: 岡村 弥妃 – sequence: 7 fullname: 堀 伸一郎 – sequence: 8 fullname: 寺本 典弘 – sequence: 9 fullname: 関根 茂樹 – sequence: 10 fullname: 菅野 康吉 – sequence: 11 fullname: 大住 省三 |
| Author_xml | – sequence: 1 fullname: Sekine, Shigeki organization: Department of Genetic Medicine and Service, National Cancer Center Hospital – sequence: 1 fullname: Kobatake, Takaya organization: Department of Gastroenterological Surgery, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Kobayashi, Naruyuki organization: Department of familial Cancer, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Matsuyama, Yumi organization: Department of familial Cancer, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Sugano, Kokichi organization: Oncogene Research Unit/ Cancer Prevention Unit, Tochigi Cancer Center Research Institute – sequence: 1 fullname: Hori, Shinichiro organization: Department of Gastroenterology, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Ochiai, Ryoji organization: Department of Gastroenterological Surgery, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Okamura, Miki organization: Department of familial Cancer, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Teramoto, Norihiro organization: Department of Pathology, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Ohsumi, Shozo organization: Department of Breast Oncology, National Hospital Organization, Shikoku Cancer Center – sequence: 1 fullname: Kaneko, Keika organization: Department of familial Cancer, National Hospital Organization, Shikoku Cancer Center |
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| References | 1）Lynch HT, de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 801–818 8）大腸癌研究会：遺伝性大腸癌診療ガイドライン2016年版．東京：金原出版，2016 6）Vasen HF: Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 2000; 18: 81S–92S 12）Sargent DJ, Marsoni S, Monges G, et al: Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol; 2010: 3219–3226 13）Brahmer JR, Drake CG, Wollner I, et al: Phase I study of single-agent anti-programmed death-1 (MDX-1106) in refractory solid tumors: safety, clinical activity, pharmacodynamics, and immunologic correlates. J Clin Oncol 2010; 28: 3167–3175 5）大腸癌研究会：大腸癌取扱い規約第8版．東京：金原出版，2013 10）NCCN-National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology (NCCN guidelines). 2017. Genetic/familial high- risk assessment: colorectal. Version 3. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf (2018.4.21) 11）Ribic CM, Sargent DJ, Moore MJ, et al: Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003; 349: 247–257 7）Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261–268 2）De la Chapella A: The incidence of Lynch syndrome. Fam Cancer 2005; 4: 233–237 3）Vasen HF, Blanco I, Aktan-Collan K, et al.: Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013; 62: 812–823 9）Canard G, Lefevre JH, Colas C, et al.: Screening for Lynch syndrome in colorectal cancer: Are we doing enough? Ann Surg Oncol 2012; 19: 809–816 15）Le DT, Uram JN, Wang H, et al: PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015; 25: 2509–2520 4）Hampel H, Frankel WL, Martin E, et al.: Screening for the Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer). N Engl J Med 2005; 352: 1851–1860 14）Lipson EJ, Sharfman WH, Drake CG, et al: Durable cancer regression off-treatment and effective re-induction therapy with an anti-PD-1 antibody. Clin cancer Res. 2013; 19: 462–468 |
| References_xml | – reference: 10）NCCN-National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology (NCCN guidelines). 2017. Genetic/familial high- risk assessment: colorectal. Version 3. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf (2018.4.21) – reference: 12）Sargent DJ, Marsoni S, Monges G, et al: Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol; 2010: 3219–3226 – reference: 6）Vasen HF: Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 2000; 18: 81S–92S – reference: 15）Le DT, Uram JN, Wang H, et al: PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015; 25: 2509–2520 – reference: 7）Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261–268 – reference: 5）大腸癌研究会：大腸癌取扱い規約第8版．東京：金原出版，2013 – reference: 1）Lynch HT, de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 801–818 – reference: 9）Canard G, Lefevre JH, Colas C, et al.: Screening for Lynch syndrome in colorectal cancer: Are we doing enough? Ann Surg Oncol 2012; 19: 809–816 – reference: 8）大腸癌研究会：遺伝性大腸癌診療ガイドライン2016年版．東京：金原出版，2016 – reference: 13）Brahmer JR, Drake CG, Wollner I, et al: Phase I study of single-agent anti-programmed death-1 (MDX-1106) in refractory solid tumors: safety, clinical activity, pharmacodynamics, and immunologic correlates. J Clin Oncol 2010; 28: 3167–3175 – reference: 2）De la Chapella A: The incidence of Lynch syndrome. Fam Cancer 2005; 4: 233–237 – reference: 3）Vasen HF, Blanco I, Aktan-Collan K, et al.: Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013; 62: 812–823 – reference: 14）Lipson EJ, Sharfman WH, Drake CG, et al: Durable cancer regression off-treatment and effective re-induction therapy with an anti-PD-1 antibody. Clin cancer Res. 2013; 19: 462–468 – reference: 4）Hampel H, Frankel WL, Martin E, et al.: Screening for the Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer). N Engl J Med 2005; 352: 1851–1860 – reference: 11）Ribic CM, Sargent DJ, Moore MJ, et al: Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003; 349: 247–257 |
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| SubjectTerms | Lynch syndrome, universal screening, microsatellite instability リンチ症候群，ユニバーサルスクリーニング，MSI |
| Title | A case of Lynch syndrome diagnosed by microsatellite instability test performed as universal screening |
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