Partial duplication of MSH2 spanning exons 7 through 14 in Lynch syndrome

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• 作者：Mikio Shiozawa (1)
  Yasuyuki Miyakura (1)
  Makiko Tahara (1) (5)
  Kazue Morishima (1)
  Hidetoshi Kumano (1)
  Koji Koinuma (1)
  Hisanaga Horie (1)
  Alan T. Lefor (1)
  Naohiro Sata (1)
  Yoshikazu Yasuda (1)
  Kenji Gonda (2) (5)
  Seiichi Takenoshita (2)
  Akihiko Tamura (3)
  Noriyoshi Fukushima (4)
  Kokichi Sugano (5)
  
• 关键词：Lynch syndrome ; Hereditary nonpolyposis colorectal cancer ; MSH2 ; Duplication ; Multiplex ligation ; dependent probe amplification (MLPA)
• 刊名：Journal of Gastroenterology
• 出版年：2013
• 出版时间：June 2013
• 年：2013
• 卷：48
• 期：6
• 页码：770-776
• 全文大小：531KB
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• 作者单位：Mikio Shiozawa (1)
  Yasuyuki Miyakura (1)
  Makiko Tahara (1) (5)
  Kazue Morishima (1)
  Hidetoshi Kumano (1)
  Koji Koinuma (1)
  Hisanaga Horie (1)
  Alan T. Lefor (1)
  Naohiro Sata (1)
  Yoshikazu Yasuda (1)
  Kenji Gonda (2) (5)
  Seiichi Takenoshita (2)
  Akihiko Tamura (3)
  Noriyoshi Fukushima (4)
  Kokichi Sugano (5)
  
  1. Department of Surgery, Jichi Medical University, Shimotsuke, Tochigi, Japan
  5. Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Younan 4-9-13, Utsunomiya, Tochigi, 320-0834, Japan
  2. Department of Surgery, Fukushima Medical University, Fukushima, Fukushima, Japan
  3. Department of Surgery, Tochigi National Hospital, Utsunomiya, Tochigi, Japan
  4. Department of Pathology, Jichi Medical University, Shimotsuke, Tochigi, Japan
  
• ISSN：1435-5922

文摘

Background Lynch syndrome, also referred to as hereditary nonpolyposis colorectal cancer, is the most common form of hereditary colorectal cancer, and is associated with a high incidence of multiple primary neoplasms in various organs. Methods A 79-year-old woman (patient 1) diagnosed with ascending colon cancer had a history of previous carcinomas of the uterus, stomach, uroepithelial tract, and colon. One year later, she developed a brain tumor (glioblastoma). A 54-year-old female (patient 2) was diagnosed with endometrial cancer and sigmoid colon cancer. Both patients underwent genetic evaluations independently. Results No mutations were found in an exon-by-exon analysis of genomic DNA by polymerase chain reaction (PCR) and reverse transcription (RT)-PCR. However, multiplex ligation-dependent probe amplification (MLPA) identified genomic duplication spanning from exon 7 to exon 14 of the MSH2 gene in both patients. Due to the presence of this characteristic gene duplication, their pedigrees were investigated further, and these showed that they are paternal half-sisters, consistent with paternal inheritance. Conclusion Large genomic duplication from intron 6 through intron 14 in MSH2 is a very rare cause of Lynch syndrome and is difficult to identify with conventional methods. MLPA may be an alternative approach for detecting large-scale genomic rearrangements.