Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report

Abstract

BackgroundTrisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age.Case presentationWe report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon. Genetics of pathology specimens revealed 47(XX) + 13 without other mutations. She underwent prophylactic completion colectomy due to presumed risk of colorectal cancers given underlying adenomatous polyposis. She has recovered well without evidence of recurrence.ConclusionsThe presence of colonic polyposis and colorectal cancer without family history or known mutations for polyposis syndrome suggests an intrinsic predisposition toward colorectal cancer in this patient with Trisomy 13. Recent research into colorectal cancer oncogenes supports that aneuploidy or increased copy number of certain genes on chromosome 13 may increase the risk of malignant transformation. This is an important correlation for researchers studying these topics and clinicians caring for patients with Trisomy 13 as they age.

Colorectal Cancer in People with Intellectual Disabilities

“…There is a suggestion that women with IDs are at higher risk than men [6,28,30], but there is a more mixed picture from the case studies. Interestingly, aside from the case studies, colon cancer was found in children with PWIDs [47,49]. Overall, findings indicate vigilance about colorectal cancer is needed when assessing the health or changes in behaviour in PWIDs.…”

“…The authors suggested that there was almost complete followup. Two colorectal carcinoma cases have been reported in a neonate and a young adult with trisomy 13 [47], and such tumours were described in a female patient with tuberous sclerosis [48]. A literature review on individuals with Down syndrome and digestive cancer identified 39 colon cancers, but overall people with Down syndrome develop fewer digestive neoplasms compared to PWIDs [49].…”