Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

Abstract

The purpose of this study was to describe the digestive neoplasms found in persons with Down syndrome. Due to intellectual disability, persons with Down syndrome do not convey their symptoms and pain, leading to delayed diagnosis and potentially worse outcome. It is thus important to know which organs are at risk for tumors and possible tumor risk factors. In a review of the literature, we found 13 benign tumors and 127 cancers in 1 fetus, 8 children, and 131 adults with Down syndrome. The review suggests a decreased incidence of digestive cancer, however, with a possible increased incidence of neoplasms of the pancreas and gallbladder. The distribution of cancers is distinct from that in the general population and that in persons with other intellectual disabilities who share the same life conditions, suggesting that constitutional protective factors exist. This review may allow a more specific, adapted medical follow-up for persons with Down syndrome and could help to elucidate the oncogenesis of digestive neoplasms.

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.…”

“…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]. In a Finnish data linkage study from a cancer registry of PWIDs (1982PWIDs ( -1986, 302 people with fragile-X syndrome were followed-up on cancer incidence until 2005 [50].…”

“…The findings were unclear as, although 11 cancers were reported, only 1 cancer was coded as digestive and another was unspecified, hence it was unclear whether these were related to colon cancer. Either way, the last 2 studies identified that colorectal cancers appear rarer compared to the general population and the occurrence remains less well established [49][50].…”

A Lower Risk of Dying from Urological Cancer in Down Syndrome: Clue for Cancer Protecting Genes on Chromosome 21

“…Cytogenetics of bladder cancer do not point to chromosome 21 [19] . However, an overexpression of genes such as ANA, TIAM1, ETS2, IFNAR, COL18A1 and CAR has been suggested to exert a protective effect against various cancers [5,21,22] . ANA impairs serum-induced cell cycle progression from the G0/G1 to the S phase.…”

“…Endostatin, the product of the COL18A1 gene, is a powerful antiangiogenic factor [for discussion, see ref. 5,21 ]. The coxsackie and adenovirus receptor gene which codes for a transmembrane protein involved in cellular adhesion is particularly expressed in urothelial tumors and is often downregulated in transitional cell carcinoma [22] .…”