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Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database

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Abstract

Purpose

Multiple endocrine neoplasia Type 2A (MEN2A) can occur with Hirschsprung disease (HD) due to mutation in the RET proto-oncogene, with the majority develo** medullary thyroid carcinoma (MTC). Given the comorbidity, many parents have contacted us to share concerns and unfortunate experiences about the prevalence rates of MEN2A/MTC in patients with HD. The aim is to determine the prevalence rate of patients with HD and MEN2A or medullary thyroid carcinoma, respectively.

Methods

This is a cross-sectional study of the COSMOS database from January 01, 2017, to March 08, 2023. The database was searched for patients diagnosed with MEN2A, MTC, and HD. IRB exemption was provided (COMIRB #23-0526).

Results

The database contained 183,993,122 patients from 198 contributing organizations. The prevalence of HD and MEN2A was 0.00002%, and for HD and MTC was 0.000009%. One in 66 patients (1.5%) with MEN2A also had HD. One in 319 patients (0.3%) in the HD group had MEN2A. One in 839 patients (0.1%) within the HD population had MTC.

Conclusion

The prevalence of MTC and HD or MEN2A and HD in the study population was low. Considering that almost all MEN2A patients have a positive family history, this data does not support the general genetic testing of HD patients.

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Acknowledgements

We thank the EPIC COSMOS team, Ryan Prieto and Harry Freedman. Also, thanks to Sara Deakyne Davies, EPIC Superuser at the Children’s Hospital Colorado, for analytical support and critical review of the database data analysis.

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Authors and Affiliations

  1. International Center for Colorectal and Urogenital Care, Children’s Hospital Colorado, Aurora, CO, USA

    L. A. Wehrli, M. L. Reppucci, J. Ketzer, A. Dominguez-Muñoz, A. Peña, A. Bischoff & L. De La Torre

  2. Research in Outcomes for Children’s Surgery, Center for Children’s Surgery, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, USA

    E. H. Cooper

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  1. L. A. Wehrli
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Contributions

LAW wrote the main manuscript text and prepared Tables 1 and 2. LAW, EHC and LDLT edited the manuscript. All authors reviewed the manuscript.

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Correspondence to L. De La Torre.

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Wehrli, L.A., Reppucci, M.L., Ketzer, J. et al. Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database. Pediatr Surg Int 39, 227 (2023). https://doi.org/10.1007/s00383-023-05511-0

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