Esophageal adenocarcinoma in children is extremely rare, but has been reported.6
Most cases have been mainly described in association with BE, which is considered the precursor lesion of esophageal cancer.6
BE occurs as a result of chronic and severe GERD. Therefore, in the pediatric population, the chief clinical concern is to prevent children with GERD from developing BE, and to detect those children with GERD that are at risk of developing BE.6
Certain underlying disorders that predispose pediatric patients to the most severe and chronic GERD, and its complications, include:
- otherwise healthy with chronic GERD,
- neurologic impairment,
- EA and other malformations,
- chronic lung disease: cystic fibrosis,
- family history and genetic predisposition,
- genetic syndromes: Cornelia de Lange syndrome,
- obesity, and
- other inflammatory problems.
The prevalence of BE in children seems to increase as the severity and chronicity of GERD increase. There are certain underlying disorders that predispose pediatric patients to the most severe and chronic GERD, and its complications. These are shown in Table 1. The exact incidence of BE in otherwise healthy children with GERD is not known. In a recent study that described 6,731 patients who underwent upper endoscopy in 12 pediatric facilities, they found biopsy proven intestinal metaplasia in nine patients (0.133%). Patients with suspected BE were older than patients without BE (median 14.7 vs. 10.1 years; = 0.011), and in logistic regression analyses, both hiatus hernia and older age were independent significant predictors of suspected BE. In another study of children with chronic GERD, esophageal metaplasia was present in some 10% of children with severe chronic GERD, half of whom had goblet cell metaplasia.6
Looking at the population of children with GERD that is severe enough to require surgery, BE was found in 11 (7.3%) out of 150 children.
Neurologic impairment is one of the common associated causes that predisposes to severe GERD in children. Studies have mentioned that 10–25% of institutionalized intellectually disabled individuals have symptoms of vomiting, regurgitation, or rumination, and in a recent study of institutionalized individuals, it was found that GERD was more frequent and severe if patients had scoliosis, cerebral palsy, use of anticonvulsant drugs or other benzodiazepines, or who had an IQ < 3. Of those patients that had an endoscopy, BE was found in 18 (14.0%) and peptic strictures in five (3.9%).6
Another predisposing condition to severe GERD includes those patients with congenital malformations, in particular esophageal atresia (EA), in which most of the cases of esophageal adenocarcinoma have been described. A recent study that followed children for a mean of 36 years shows a prevalence of BE of 11%.7
Therefore, children with EA need to have very close follow-up. Children with other malformations like diaphragmatic hernias are also at higher risk of developing severe GERD. Children with chronic lung disease, in particular patients with cystic fibrosis, have also been shown to have a higher prevalence of severe GERD and Barrett's BE. It has been suggested that the standardized incidence ration of esophageal adenocarcinoma in those patients is significantly higher.8
The exact role that genetic predisposition plays is not clear. Significant clusterings of reflux symptoms, HH, erosive esophagitis, BE, and esophageal adenocarcinoma occur in families, suggesting some heritability of GERD and its complications. There are, however, well defined genetic syndromes that have been associated with severe GERD and its complications. An example includes Cornelia de Lange syndrome in which BE seems to occur in 10% of those studied, and adenocarcinoma have been described.9
The recent obesity epidemic has been associated with an increased incidence of GERD both in adults and children. The impact that it will have in the incidence of BE in the pediatric population is not clear, but it has already been shown in pediatric cross-sectional studies that moderately and extremely obese children are more likely to have a diagnosis of GERD compared with normal weight children (OR 1.16, 95% CI: 1.02–1.32 and 1.32, 95% CI: 1.13–1.56, respectively).10
The role that other inflammatory conditions play in the development of BE is not clear. Eosinophilic esophagitis (EoE) is an allergy-mediated esophageal inflammation that produces severe esophagitis. BE has not been associated with EoE, but recently the first case reports of BE associated with EoE were published. Given that the incidence of EoE is increasing, long-term follow-up of these patients will be needed to establish if BE will occur more frequently in those patients. Supported by grant NIH K24 DK082792A.