본문 바로가기
KERD
논문KCI 등재

Endometrial cancer six years after colon cancer in Lynch syndrome: Single institution case in Korea

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류산부인과학

초록

Here, we present a case of endometrial cancer six years after colon cancer in a Lynch syndrome patient at one institution. A 36-year-old Asian woman underwent surgery for colon cancer and six years later she underwent surgery for endometrial cancer. Based on a family history of cancer, she underwent genetic testing, including gene sequencing, after she contracted the colon cancer. A microsatellite instability test was performed and showed an unstable fi nal result. Gene sequencing (MSH2 ) revealed a mutation at c.2649 T>G (p.1883M). However, her follow-up was not normal. In the second operation, immunohistochemistry showed that her endometrium stained negatively for MSH2 , consistent with the previous test. As far as we know, this is a fi rst case of metachronous cancer sin Korea regarding Lynch syndrome in single institution. It is important for enterocolonists and gynecological oncologists to screen effectively to reduce the mortality and costs associated with these genetic malignancies.

Abstract

Here, we present a case of endometrial cancer six years after colon cancer in a Lynch syndrome patient at one institution. A 36-year-old Asian woman underwent surgery for colon cancer and six years later she underwent surgery for endometrial cancer. Based on a family history of cancer, she underwent genetic testing, including gene sequencing, after she contracted the colon cancer. A microsatellite instability test was performed and showed an unstable fi nal result. Gene sequencing (MSH2 ) revealed a mutation at c.2649 T>G (p.1883M). However, her follow-up was not normal. In the second operation, immunohistochemistry showed that her endometrium stained negatively for MSH2 , consistent with the previous test. As far as we know, this is a fi rst case of metachronous cancer sin Korea regarding Lynch syndrome in single institution. It is important for enterocolonists and gynecological oncologists to screen effectively to reduce the mortality and costs associated with these genetic malignancies.

참고문헌 (11)

  1. Fishel R, "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer", Cell, 75, pp.1027~1038 (1993)
  2. Leach FS, "Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer", Cell, 75, pp.1215~1225 (1993)
  3. Umar A, "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability", J Natl Cancer Inst, 96, pp.261~268 (2004)
  4. Burke W, "Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium", JAMA, 277, pp.915~919 (1997)
  5. Järvinen HJ, "Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer", Gastroenterology, 108, pp.1405~1411 (1995)
  6. Ramsey SD, "Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer", Ann Intern Med, 135, pp.577~588 (2001)
  7. Schmeler KM, "Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome", N Engl J Med, 354, pp.261~269 (2006)
  8. Järvinen HJ, "Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer", Gastroenterology, 118, pp.829~834 (2000)
  9. de Vos tot Nederveen Cappel WH, "Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families", Dis Colon Rectum, 45, pp.1588~1594 (2002)
  10. Burke W, "Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium", JAMA, 277, pp.997~1003 (1997)
  11. Perea J, "Early-onset colorectal cancer is an easy and effective tool to identify retrospectively Lynch syndrome", Ann Surg Oncol, 18, pp.3285~3291 (2011)

관련 논문AI추천

One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family김민규, 김종원, 김현주, 이은희, 이지연, 이현욱대한산부인과학회 · Obstetrics & Gynecology Science2013 · 제56권 제06호A Case of Perimenopausal Endometrial Cancer in a Woman with MSH2 Germline Mutation김민규, 박정민, 이은희, 이현욱, 허은진대한폐경학회 · 대한폐경학회지2013 · 제19권 제3호Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea이찬, 김태헌, 이민희, 이현정, 장자현, 정상근, 주원덕, 최민철대한폐경학회 · 대한폐경학회지2017 · 제23권 제1호Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum박성섭, 성문우, 송용상, 신소현, 유은정, 이유경대한산부인과학회 · Obstetrics & Gynecology Science2015 · 제58권 제2호Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient김미선, 김민규, 김수현, 오상은대한산부인과학회 · Obstetrics & Gynecology Science2015 · 제58권 제2호A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients김용범, 노재홍, Ala Aiob, Dong Hoon Suh, Duck Woo Kim, Hyojin Kim, Kidong Kim, Kyoung Un Park, Soo Hyun Seo, Yeo Rae Kim대한산부인과학회 · Obstetrics & Gynecology Science2023 · 제66권 제6호

이 간행물의 다른 논문 (7건)