Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis

Solène Dermine; Emmanuelle Masson; Emmanuelle Girodon-Boulandet; Thierry Bienvenu; Claude Férec; Philippe Lévy; Vinciane Rebours

doi:10.1016/j.clinre.2024.102346

Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis

Clin Res Hepatol Gastroenterol. 2024 Apr 22;48(6):102346. doi: 10.1016/j.clinre.2024.102346. Online ahead of print.

Authors

Solène Dermine¹, Emmanuelle Masson², Emmanuelle Girodon-Boulandet³, Thierry Bienvenu³, Claude Férec⁴, Philippe Lévy¹, Vinciane Rebours⁵

Affiliations

¹ Department of Pancreatology, Beaujon Hospital, DMU Digest, AP-HP, Clichy, France; Université Paris-Cité, Paris, France.
² Department of Molecular Genetics and Reproduction Biology, CHRU Brest, Brest, France; Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France.
³ Université Paris-Cité, Paris, France; Laboratory of molecular genetics, Cochin Hospital, AP-HP, Paris, France.
⁴ Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France.
⁵ Department of Pancreatology, Beaujon Hospital, DMU Digest, AP-HP, Clichy, France; Université Paris-Cité, Paris, France. Electronic address: vinciane.rebours@aphp.fr.

PMID: 38657903
DOI: 10.1016/j.clinre.2024.102346

Abstract

Genetic testing is performed for unexplained pancreatitis. The aim of this study was to evaluate the diagnostic value of repeating genetic testing in idiopathic pancreatitis when new predisposing genes are identified. We investigated 330 patients who were initially screened for PRSS1, SPINK1 and CFTR genes. A new analysis was performed by Next-Generation Sequencing (NGS) for PRSS1, SPINK1, CFTR, CTRC, CASR, CPA1, TRPV6 genes and the CEL-HYB1 allele in clinical practice, and patients were included in our cohort study. Additional rare variants were identified in 7.3 % of the patients. Screening for new pancreatitis genes is recommended when initial screening is limited. Routine use of NGS is a useful diagnostic tool in these cases.

Keywords: CASR; CEL-HYB1; CFTR; CPA1; CTRC; Genetic pancreatitis; Idiopathic pancreatitis; PRSS1; SPINK1; TRPV6.