This is a cross-sectional, multicenter tissue study with an exploratory aim to estimate the prevalence of genetic mutations that predispose individuals to diseases in the context of cholestatic disorders and hepatobiliary neoplasms. It is intended as a hypothesis-generating study for future empirical investigations.
Instrumental or histological diagnosis of HBCs, defined as primary liver and/or biliary tumors (hepatocellular carcinoma, cholangiocarcinoma, hepatocholangiocarcinoma) occurring in patients without apparent underlying chronic liver disease or in the context of cryptogenic chronic liver disease;
Curative treatment through surgical resection of the neoplasm or liver transplantation
GGT and/or alkaline phosphatase >1.5 times the normal values in two or more measurements taken at least 6 months apart,
A history of pruritus combined with [BA] >10 mmol/l for a period of ≥6 months.
None
Subjects with a diagnosis of HBCs who have undergone liver resection or liver transplantation, and a population of patients affected by CCLDs.
Other
Other
Not listed
Prevalence of Pathogenic and Variant Mutations in PFIC Genes in HBCs and CCLDs Patients
To estimate the prevalence of pathogenic germline mutations, probably pathogenic mutations, variants of uncertain significance, probably benign variants, and benign variants in the genes responsible for PFIC in individuals diagnosed with HBCs who have undergone liver resection or liver transplantation, and in a population of patients with CCLDs.
Identifying New PFIC-Associated Genes in HBCs and CCLDs Patients Negative for NGS Analysis via WES
Estimate the percentage of patients carrying newly identified genes potentially responsible for PFIC, discovered through WES
Identification of Somatic Mutations in Tumor Tissue Samples from Patients Undergoing Liver Resection or Transplantation for HBCs
Estimate percentage of patients carrying somatic mutations identified through NGS (in PFIC-related genes) or through WES.
Laboratory and Clinical Features of HBCs and CCLDs Patients
Estimate percentage of patients with PFIC gene mutations and BRIC, LPAC, ICP, DIC phenotype, advanced fibrosis, pruritus, and/or neonatal jaundice
Comparison of Allelic Frequency of PFIC-Related Mutations in the NGS Panel between the Study Population and gnomAD Database
Estimate the proportion of a specific allele among the total alleles identified in the NGS genetic analysis.
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