Abstract
Objective
To evaluate cancer risk in individuals with cleft lip and/or cleft palate (CL/P).
Design
Retrospective chart review of patients with CL/P, including abstraction of information on cancer diagnoses was conducted. Cancer risk was compared with national population-based estimates using standardized incidence ratios (SIRs) and exact binomial tests. Subgroup analyses compared demographic and clinical characteristics between patients with and without cancer.
Setting
Study was performed at a single tertiary academic center with multidisciplinary surgical, pediatric, and genetic care.
Patients/Participants
Total of 2121 patients with CL/P from 1970 to 2024 with complete medical documentation were included.
Main Outcome Measures
Main outcomes included prevalence of cancer diagnoses, childhood cancer incidence, and differences in cancer occurrence by age, cleft type, syndromic status, and family history.
Results
Total of 144 patients (6.8%) had pathologically confirmed cancer diagnoses. Twelve childhood cancers were identified, with 10 cases presenting before age 15. Children younger than 15 with CL/P had a significantly elevated cancer risk (SIR 4.7; 95% confidence interval: 1.8-7.6; P < .00001). Pediatric cancers occurred mainly in syndromic cases. Cancer prevalence was higher in cleft palate only and cleft lip/palate cases compared with cleft lip only (P < .05). Cancer occurrence was not higher in adults with CL/P compared to the general population.
Conclusions
Cancer risk is not uniformly elevated over the lifespan in individuals with CL/P. Increased cancer risk is observed in our pediatric cohort. Clinical care should include careful assessment of childhood cancers, syndromic features, and family history, with consideration for genetic counseling and multidisciplinary follow-up.
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