Journal of Gastroenterology

, Volume 48, Issue 6, pp 770–776

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

  • Mikio Shiozawa
  • Yasuyuki Miyakura
  • Makiko Tahara
  • Kazue Morishima
  • Hidetoshi Kumano
  • Koji Koinuma
  • Hisanaga Horie
  • Alan T. Lefor
  • Naohiro Sata
  • Yoshikazu Yasuda
  • Kenji Gonda
  • Seiichi Takenoshita
  • Akihiko Tamura
  • Noriyoshi Fukushima
  • Kokichi Sugano
Case Report

DOI: 10.1007/s00535-013-0804-3

Cite this article as:
Shiozawa, M., Miyakura, Y., Tahara, M. et al. J Gastroenterol (2013) 48: 770. doi:10.1007/s00535-013-0804-3
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Abstract

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.

Keywords

Lynch syndrome Hereditary nonpolyposis colorectal cancer MSH2 Duplication Multiplex ligation-dependent probe amplification (MLPA) 

Copyright information

© Springer Japan 2013

Authors and Affiliations

  • 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. 1.Department of SurgeryJichi Medical UniversityShimotsukeJapan
  2. 2.Department of SurgeryFukushima Medical UniversityFukushimaJapan
  3. 3.Department of SurgeryTochigi National HospitalUtsunomiyaJapan
  4. 4.Department of PathologyJichi Medical UniversityShimotsukeJapan
  5. 5.Oncogene Research Unit/Cancer Prevention UnitTochigi Cancer Center Research InstituteUtsunomiyaJapan

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