Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case.
OBJECTIVE
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.
Fornasarig
Mara
M
Gastroenterology Unit, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy. mfornasarig@cro.it
Minisini
Alessandro M
AM
Viel
Alessandra
A
Quaia
Michele
M
Canzonieri
Vincenzo
V
Veronesi
Andrea
A
D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000628:therapy*; D000328:Adult; D003111:Colonic Polyps / Q000235:genetics / Q000628:therapy*; D003113:Colonoscopy; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase