Retrospective Cohort of Patients Diagnosed With HCC on Non-Cirrhotic Liver
Conditions
Keywords
Prevalence, Alpha-1 Antitrypsin Deficiency, HCC on Non-Cirrhotic Liver, Retrospective Cohort
Brief summary
Patients with Alpha-1 Antitrypsin Deficiency (AATD), a rare genetic disease, have a 20- to 50-fold higher risk of developing primary liver cancer (PLC), such as hepatocellular carcinoma (HCC), in both cirrhotic and non-cirrhotic livers, highlighting AATD as a potential oncogenic factor. Therefore, our aim is to evaluate the association between AATD and HCC in patients with a non-cirrhotic liver and no known predisposition
Detailed description
The two most common pathogenic AATD variants, PiS and PiZ, will be identified using the multiplex digital PCR (dPCR) system in a French cohort of 71 patients who developed HCC in a non-cirrhotic liver without known risk factors for HCC
Interventions
OTHERmultiplex digital PCR
multiplex digital PCR
Sponsors
University Hospital, Bordeaux
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Adult patients (≥18 years of age). 2. Histopathologically confirmed diagnosis of hepatocellular carcinoma (HCC). 3. Normal liver or chronic liver disease with minimal to moderate fibrosis in non-tumoral tissue. 4. Signed informed consent obtained prior to participation. 5. No other known etiology or risk factors for liver disease, including: * Alcohol-related liver disease * Metabolic-associated steatohepatitis (MASH) * Viral hepatitis infections * Hemochromatosis
Exclusion criteria
1. Minor patients (\<18 years of age). 2. HCC diagnosis not established according to standard histopathological criteria. 3. Liver with chronic liver disease showing advanced fibrosis in non-tumoral tissue. 4. No signed informed consent prior to participation. 5. Presence of other identified etiologies or known risk factors for liver disease, including: * Alcohol-related liver disease * Metabolic-associated steatohepatitis (MASH) * Viral hepatitis infections * Hemochromatosi
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of Alpha-1 Antitrypsin Deficiency | 1 year | Prevalence of Alpha-1 Antitrypsin Deficiency in a Retrospective Cohort of Patients Diagnosed with HCC on Non-Cirrhotic Liver up to 1 year |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation of clinico-biological parameters-including survival (years), sex, BMI, fibrosis stage, mode of diagnosis, number of tumors, tumor size (mm), metastasis, recurrence, and Edmondson score-according to AAT genotype | 1 year | Correlation of clinico-biological parameters-including survival (years), sex, BMI, fibrosis stage, mode of diagnosis, number of tumors, tumor size (mm), metastasis, recurrence, and Edmondson score-according to AAT genotype. up to 1 year |
Countries
France
Contacts
Primary ContactMarie Decraecker, MD
Outcome results
None listed