J Pediatr Gastroenterol Nutr. 2024 Dec 20. doi: 10.1002/jpn3.12443. Online ahead of print.

Batul Kaj-Carbaidwala ¹, Johan Fevery ², Douglas G Adler ³, Annika Bergquist ⁴, Lissy de Ridder ⁵, Mark Deneau ⁶, Corinne Gower-Rousseau ⁷, Roger W Chapman ⁸, Kate D Lynch ^8 9, Catherine A M Stedman ¹⁰, David C Wilson ¹¹, Uzma Shah ¹, Lipika Goyal ¹², Harland S Winter ¹, Jochen K Lennerz ¹³

Author information

¹Division of Pediatric Gastroenterology, Hepatology and Nutrition, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

²Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium.

³Porter Adventist Hospital, Centura Health, Denver, Colorado, USA.

⁴Division of Hepatology, Department of Upper GI Disease, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden.

⁵Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.

⁶Division of Pediatric Gastroenterology, Hepatology and Nutrition, University of Utah, Salt Lake City, Utah, USA.

⁷Research and Public Health Unit, Robert Debré Hospital, Reims University Hospital, Reims, France.

⁸Translational Gastroenterology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.

⁹Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.

¹⁰Christchurch Hospital, University of Otago, Christchurch, New Zealand.

¹¹Child Life and Health, University of Edinburgh, Edinburgh, UK.

¹²Stanford Cancer Center, Palo Alto, California, USA.

¹³Massachusetts General Hospital, Center for Integrated Diagnostics, Boston, Massachusetts, USA.

Abstract

Primary sclerosing cholangitis (PSC) is a risk factor for cholangiocarcinoma. When a child is diagnosed with both PSC and inflammatory bowel disease (IBD), evidence-based information on counseling families and risk management of developing cholangiocarcinoma is limited. In this case series (PubMed/collaborators), we included patients with PSC-IBD who developed cholangiocarcinoma and contacted authors to determine an event curve specifying the time between the second diagnosis (IBD or PSC) and a diagnosis of cholangiocarcinoma. Review of n = 175 studies resulted in a cohort of n = 21 patients with pediatric-onset PSC-IBD-cholangiocarcinoma. The median time to development of cholangiocarcinoma was 6.95 years from the second diagnosis. Despite the small number, 38% of cholangiocarcinoma developed within the first 2 years, and 47% of patients developed cholangiocarcinoma in the transition period to adult care (age 14-25). Our findings highlight the importance of screening that extends over the so-called transition period from pediatric to adult care.