{"doi":"10.1002/cncr.34952","title":"Associations between birth defects with neural crest cell origins and pediatric embryonal tumors","abstract":"BACKGROUND: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to neural crest cells. The effect of BDNCOs on embryonal tumors was estimated to explore potential shared etiologic pathways and genetic origins. METHODS: With the use of a multistate, registry-linkage cohort study, BDNCO-embryonal tumor associations were evaluated by generating hazard ratios (HRs) and 95% confidence intervals (CIs) with Cox regression models. BDNCOs consisted of ear, face, and neck defects, Hirschsprung disease, and a selection of congenital heart defects. Embryonal tumors included neuroblastoma, nephroblastoma, and hepatoblastoma. Potential HR modification (HRM) was investigated by infant sex, maternal race/ethnicity, maternal age, and maternal education. RESULTS: The risk of embryonal tumors among those with BDNCOs was 0.09% (co-occurring n = 105) compared to 0.03% (95% CI, 0.03%-0.04%) among those without a birth defect. Children with BDNCOs were 4.2 times (95% CI, 3.5-5.1 times) as likely to be diagnosed with an embryonal tumor compared to children born without a birth defect. BDNCOs were strongly associated with hepatoblastoma (HR, 16.1; 95% CI, 11.3-22.9), and the HRs for neuroblastoma (3.1; 95% CI, 2.3-4.2) and nephroblastoma (2.9; 95% CI, 1.9-4.4) were elevated. There was no notable HRM by the aforementioned factors. CONCLUSIONS: Children with BDNCOs are more likely to develop embryonal tumors compared to children without a birth defect. Disruptions of shared developmental pathways may contribute to both phenotypes, which could inform future genomic assessments and cancer surveillance strategies of these conditions.","journal":"Cancer","year":2023,"id":364190,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9029,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":247448,"name":"Philip J. Lupo","orcid":"0000-0003-0978-5863","position":1,"is_corresponding":false},{"id":375847,"name":"Tania A. Desrosiers","orcid":"0000-0003-1600-3700","position":2,"is_corresponding":false},{"id":275144,"name":"Hazel B. Nichols","orcid":"0000-0003-0972-1560","position":3,"is_corresponding":false},{"id":491851,"name":"Susan M. Smith","orcid":"0000-0003-4782-6857","position":4,"is_corresponding":false},{"id":96241,"name":"Charles Poole","orcid":null,"position":5,"is_corresponding":false},{"id":268650,"name":"Mark A. Canfield","orcid":"0000-0001-8827-1881","position":6,"is_corresponding":false},{"id":1046426,"name":"Charles Shumate","orcid":"0000-0003-2884-2835","position":7,"is_corresponding":false},{"id":247438,"name":"Tiffany M. Chambers","orcid":"0000-0001-7618-7009","position":8,"is_corresponding":false},{"id":375846,"name":"Jeremy M. Schraw","orcid":"0000-0002-6674-9562","position":9,"is_corresponding":false},{"id":268673,"name":"Wendy N. Nembhard","orcid":"0000-0002-8318-4049","position":10,"is_corresponding":false},{"id":275142,"name":"Mahsa M. Yazdy","orcid":"0000-0002-7415-5350","position":11,"is_corresponding":false},{"id":493350,"name":"Eirini Nestoridi","orcid":null,"position":12,"is_corresponding":false},{"id":530390,"name":"Amanda E. Janitz","orcid":"0000-0003-2690-385X","position":13,"is_corresponding":false},{"id":261928,"name":"Andrew F. Olshan","orcid":"0000-0001-9115-5128","position":14,"is_corresponding":false},{"id":739946,"name":"Eugene C. Wong","orcid":"0000-0002-0044-4336","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-19T01:14:36.728255Z","pmid":"37432072","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}