A Population‐Based Assessment of Cancer Risk in Children With <scp>VACTERL</scp>

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.

Authors

Institutions

Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-12-23
DOI
https://doi.org/10.1002/ajmga.70031
Primary Topic
Esophageal and GI Pathology
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

Michael E. Scheurer, A. Janitz, S. E. Plon, Tania A. Desrosiers et al.
American Journal of Medical Genetics Part A
Esophageal and GI Pathology
article

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

Michael E. Scheurer, A. Janitz, S. E. Plon, Tania A. Desrosiers, Charles Shumate, Barbara Luke, Philip J. Lupo, Alexander Renwick, Jeremy M. Schraw, Angela E. Scheuerle, Chad Huff, Ann Nordgren, Ji Yun Tark, Giorgio Tettamanti, Andrew F. Olshan, Rachel D. Harris
article en

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.

American Journal of Medical Genetics Part A
University of North Carolina at Chapel Hill (US), St. Jude Children's Research Hospital (US), Karolinska University Hospital (SE), The University of Texas MD Anderson Cancer Center (US), Texas Department of State Health Services (US), Emory University (US), Baylor College of Medicine (US), Great Ormond Street Hospital (GB), Sahlgrenska University Hospital (SE), Karolinska Institutet (SE), Aflac (United States) (US), Children's Healthcare of Atlanta (US), University College London (GB), University of Oklahoma Health Sciences Center (US), Rice University (US), The University of Texas Southwestern Medical Center (US), Michigan State University (US), University of Gothenburg (SE)
U.S. Department of Defense, Rally Foundation, Cancer Prevention and Research Institute of Texas, National Cancer Institute, National Institute of Child Health and Human Development
Good health and well-being
Openalex Percentile: Top 27%
Esophageal and GI Pathology
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.