Obstet Gynecol Sci.  2013 Nov;56(6):408-411. 10.5468/ogs.2013.56.6.408.

One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family

Affiliations
  • 1Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.
  • 2Department of Pathology, Samsung Changwon Hospital, Changwon, Korea.
  • 3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea.
  • 4Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea. minkyukim@skku.edu

Abstract

We have recently experienced an endometrial cancer 12 years after the diagnosis of colon cancer with Lynch syndrome. A 49-year-old Korean woman had a family history of colon cancer. Her mother had colon cancer at 56-year-old, and her brother had colon cancer at 48 years old. The patient received surgery for endometrial cancer at the same hospital 12 years after being treated for colon cancer. Immunohistochemistry showed that her endometrial tissue stained negative for MSH2. A microsatellite instability test was performed and showed the presence of instability high microsatellite instability. An hMLH2 gene mutation was detected at codon 629 codon of exon 12, in which a glutamine was replaced with an arginine (1886A>G [p.Gln629Arg]). To our knowledge, this is the first case of metachronous cancer in a Lynch syndrome family in Korea with a gap of more than ten years between cancer diagnoses.

Keyword

Colon cancer; Endometrial cancer; Lynch syndrome

MeSH Terms

Arginine
Colon*
Colonic Neoplasms*
Colorectal Neoplasms, Hereditary Nonpolyposis*
Diagnosis
Endometrial Neoplasms*
Female
Glutamine
Humans
Immunohistochemistry
Korea
Microsatellite Instability
Middle Aged
Mothers
Siblings
Arginine
Glutamine

Figure

  • Fig. 1 Family cancer history of patient. ca, cancer.

  • Fig. 2 Immunohisotchemistry. (A) Endometrium, ×400. (B) Colon, ×400. (C) Gene sequencing result of hMSH2.


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