Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: Report of a case

Mara Fornasarig, Alessandro M. Minisini, Alessandra Viel, Michele Quaia, Vincenzo Canzonieri, Andrea Veronesi

Research output: Contribution to journalArticle

Abstract

PURPOSE: We report the case of two siblings, clinically andendoscopically followed for 12 years, who displayed anattenuated adenomatous polyposis coli phenotype. METHODS: On workup for rectal bleeding with colonoscopy, we found multiple adenomas mainly right-sided in a 21-year-old female and the same colonic phenotype was observed in her 27-year-old brother. We made a clinical diagnosis of attenuated adenomatous polyposis coli and performed APC gene testing. Because they had refused the proposed ileorectal anastomosis surgical option, we planned a periodic, endoscopic follow-up. RESULTS: Gene testing did not confirm the clinical suspicion of attenuated adenomatous polyposis coli. Actually, we did not find anypathogenic mutation in APC gene and we recently identified a biallelic Y125C MYH defect. During the endoscopic follow-up, a progressive reduction of adenomas was seen. CONCLUSIONS: New insight colorectal cancer genetics have allowed definition of a new class of polyposis that applies to some patients with attenuated adenomatous polyposis coli phenotype as in the siblings we have described. To prevent colorectal cancer without recurring to surgery, colonoscopic polypectomy may be a suitable tool in controlling MYH polyposis.

Original languageEnglish
Pages (from-to)272-275
Number of pages4
JournalDiseases of the Colon and Rectum
Volume49
Issue number2
DOIs
Publication statusPublished - Feb 2006

Keywords

  • Adenomatous polyposis coli
  • Attenuated adenomatous polyposis coli
  • Base excision repair gene MYH
  • Colonoscopic polypectomy
  • MYH polyposis

ASJC Scopus subject areas

  • Gastroenterology

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