Language

English

Publication Date

5-1-2026

Journal

American Journal of Medical Genetics Part A

DOI

10.1002/ajmga.70031

PMID

41432111

PMCID

PMC13410750

PubMedCentral® Posted Date

7-29-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

Cancer risk in children with VACTERL, a nonrandom co-occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population-based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage cohort. VACTERL was defined as the presence of ≥ 3 associated defects. Cox regression was applied to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for cancer risk before age 18 in children with VACTERL compared to children without birth defects. Kaplan-Meier analyses were used to estimate cumulative incidence of cancer in each group. Of 21,224,742 births, 2288 met VACTERL criteria; 8 developed cancer, 5 (63%) of whom were diagnosed with embryonal tumors. Children with VACTERL had a significantly increased cancer risk (HR = 3.0, 95% CI: 1.5-6.0), particularly for embryonal tumors (HR = 6.9, 95% CI: 2.9-16.5), relative to unaffected children. Cancer incidence was 421.3 (95% CI: 181.9, 830.0) per million person-years for VACTERL versus 133.4 (95% CI: 131.8-135.0) for unaffected children. Children with VACTERL may face increased cancer risk. Shared developmental or epigenetic mechanisms may underlie both conditions, highlighting efforts to identify subgroups that may benefit from targeted surveillance.

Keywords

Humans, Female, Male, Child, Heart Defects, Congenital, Spine, Neoplasms, Child, Preschool, Limb Deformities, Congenital, Trachea, Anal Canal, Kidney, Infant, Esophagus, Adolescent, Incidence, Infant, Newborn, Registries, Risk Factors

Published Open-Access

yes

Download

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.