Clinical Endoscopy

The Korean Society of Gastrointestinal Endoscopy (대한소화기내시경학회)
권호 표지

Cowden's Disease Detected by Gastric Polyposis during Endoscopy in a Routine Check Up: A Case Report

건강검진 내시경에서 위용종증이 발견되어 진단된 코우덴병의 1예

  • Yi, Ji-Eun (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Cho, Dae-Hyeon (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Woo, Jae-Gon (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Kwon, Oh-Un (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Jung, Kyoung-Won (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Jung, Chang-Wook (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Yoo, Gil-Jong (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine) ;
  • Sim, Sang-Goon (Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine)
  • 이지은 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 조대현 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 우재곤 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 권오언 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 정경원 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 정창욱 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 유길종 (성균관대학교 의과대학 마산삼성병원 내과학교실) ;
  • 심상군 (성균관대학교 의과대학 마산삼성병원 내과학교실)
  • Received : 2010.03.10
  • Accepted : 2010.05.30
  • Published : 2010.06.30
⟨ Previous Next ⟩

Abstract

Cowden's disease, a rare autosomal dominant disorder characterized by benign hamartomatous overgrowth of various tissues, increases the risk of cancer of the thyroid, breast, endometrium, prostate, and possibly other organs. Generally, germline mutations in the coding sequence for PTEN are found in 80% of patients with Cowden's disease. Here we report a rare case of incidentally discovered gastric polyposis during esophagogastroscopy for medical screening in a patient with a history of surgery for breast and thyroid cancer. Identifyng the mutation in the PTEN gene to a diagnosis of Cowden's disease.

코우덴병은 전신성 다발성 과오종과 신생물이 특징인 다발성 과오종-신생물 증후군(multiple hamartoma-neoplasia syndrome)으로 유방, 갑상선 및 자궁내막 등에서 악성 변화의 빈도가 높게 나타나며 환자군의 80%에서 PTEN 유전자 돌연변이를 관찰 할 수 있다. 본 증례의 경우 건강 검진 내시경검사에서 식도 극세포증(acanthosis) 및 위 다발성 용종증을 보여 감별진단을 시행하였고 과거력은 갑상선암 및 유방암의 수술병력이 있으며, PTEN 유전자 돌연변이를 보여 코우덴병으로 진단하였다. 이 질환을 가진 환자는 악성변화 가능성에 대한 정기적인 검사가 필요하며 상염색체 우성유전을 하기 때문에 가족에 대한 적극적인 유전학 상담과 여러 유전 질환에 대한 감별진단을 고려하여야 한다.

Keywords

References

  1. Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999;7:267-273. https://doi.org/10.1038/sj.ejhg.5200289
  2. Eng C. Will the real cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000;37:828-830. https://doi.org/10.1136/jmg.37.11.828
  3. Marra G, Armelao F, Vecchio FM, Percesepe A, Anti M. Cowden's disease with extensive gastrointestinal polyposis. J Clin Gastroenterol 1994;18:42-47. https://doi.org/10.1097/00004836-199401000-00011
  4. Chen YM, Ott DJ, Wu WC, Gelfand DW. Cowden's disease:a case report and literature review. Gastrointest Radiol 1987;12:325-329. https://doi.org/10.1007/BF01885173
  5. Allen BS, Fitch MH, Smith JG Jr. Multiple hamartoma syndrome. A report of a new case with associated carcinoma of the uterine cervix and angioid streaks of the eyes. J Am Acad Dermatol 1980;2:303-308. https://doi.org/10.1016/S0190-9622(80)80042-9
  6. Hizawa K, Iida M, Matsumoto T, et al. Gastrointestinal manifestations of Cowden's disease. Report of four cases. J Clin Gastroenterol 1994;18:13-18. https://doi.org/10.1097/00004836-199401000-00005
  7. Kay PS, Soetikno RM, Mindelzun R, et al. Diffuse esophageal glycogenic acanthosis: an endoscopic marker of Cowden disease. Am J Gastroenterol 1997;92:1038-1040.
  8. Park IG, Myung SJ, Yang SK, Young HS. Diagnosis of Cowden's disease based on gastrointestinal manifestations. Korean J Gastrointest Endosc 2003;26:183-191.
  9. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003;22:183-198. https://doi.org/10.1002/humu.10257
  10. Yin Y, Shen WH. PTEN: a new guardian of the genome. Oncogene 2008;27:5443-5453. https://doi.org/10.1038/onc.2008.241
  11. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet 2008;16:1289-1300. https://doi.org/10.1038/ejhg.2008.162
  12. Zhou X, Hampel H, Thiele H, et al. Association of germline mutation in the PTEN tumor suppressor gene and proteus and proteus-like syndromes. Lancet 2001;358:210-211. https://doi.org/10.1016/S0140-6736(01)05412-5
  13. National Comprehensive Cancer Network. I (2010). The NCCN genetic/familial high-risk assessment: Breast and ovarian (version 1.2010). Clinical Practice Guidelines in Oncology. Retrieved March 8 2010, from http://www.nccn.org.