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  • 标题:Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome
  • 本地全文:下载
  • 作者:Ahn, Do Hee ; Rho, Jung Hee ; Tchah, Hann
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2016
  • 卷号:59
  • 期号:1
  • 页码:40-42
  • DOI:10.3345/kjp.2016.59.1.40
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

  • 关键词:Lynch syndrome; Mismatched repair genes; Colorectal Neoplasms
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