Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis

Riccardo Nascimbeni, Salvatore Pucciarelli, Diego Di Lorenzo, Emanuele Urso, Claudio Casella, Marco Agostini, Donato Nitti, Bruno Salerni

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

PURPOSE: The risk of cancer or severe polyposis of the rectal stump after total colectomy for MutYH-associated polyposis is scarcely defined. To evaluate this risk, we describe the findings of endoscopic surveillance of the rectal stump in a series of patients with biallelic MutYH mutations and polyposis. METHODS: This is a retrospective, observational, multicenter case series derived from 2 familial cancer registries. Biallelic, germ-line MutYH mutations were found in 14 patients with no adenomatous polyposis coli gene mutations. Eleven of them underwent total colectomy with ileorectal anastomosis and yearly proctoscopic surveillance thereafter. Phenotype and histology of rectal polyps were recorded at diagnosis and during follow-up. Development of adenomas and carcinomas during endoscopic surveillance of the rectal stump was observed. RESULTS: At diagnosis, 6 patients had attenuated polyposis (10-100 adenomas), 5 patients had classical polyposis, 8 patients had colon carcinoma, and no patient had rectal carcinoma. The mean number of rectal polyps at diagnosis was 2.64 ± 2.11 (range, 0-6). No patients had rectal cancer. The most frequent MutYH mutations were Y165C/Y165C and G382D/G382D in 6 and 2 patients, respectively. During surveillance of the rectal stump after surgery (median duration, 5 y; range, 2-23 y), no patient developed rectal cancer. The mean number of adenomas per proctoscopy was 1.23 ± 2.19 (range, 0-10 adenomas per proctoscopy). This study was limited by the small size and retrospective nature of the case series. CONCLUSION: Total colectomy with ileorectal anastomosis may be appropriate for patients with MutYH-associated polyposis, provided that they have no rectal cancer or severe rectal polyposis at presentation and that they undergo yearly endoscopic surveillance thereafter.

Original languageEnglish (US)
Pages (from-to)1670-1675
Number of pages6
JournalDiseases of the Colon and Rectum
Volume53
Issue number12
DOIs
StatePublished - Dec 1 2010

Keywords

  • Endoscopic surveillance
  • Myh-associated polyposis
  • Total colectomy

ASJC Scopus subject areas

  • Gastroenterology

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