Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis - 25/04/24
Highlights |
• | The occurrence of chronic pancreatitis is most often the result of a combination of genetic and environmental factors. |
• | An autosomal dominant gene (PRSS1) and many predisposing genes have been identified in pancreatitis since 20 years. |
• | Progress in genetic screening are facilitated by the routine use of NGS for diagnosis of genetic pancreatitis. |
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.
Il testo completo di questo articolo è disponibile in PDF.Keywords : Idiopathic pancreatitis, Genetic pancreatitis, PRSS1, SPINK1, CFTR, CTRC, CASR, CPA1, TRPV6, CEL-HYB1
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Vol 48 - N° 6
Articolo 102346- Giugno 2024 Ritorno al numero
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