{
  "abstract": "Background and aims: Patients with alpha-1 antitrypsin deficiency (AATD) have a 20-to 50-fold higher risk of developing primary liver cancer (PLC), such as hepatocellular carcinoma (HCC), in both cirrhotic and noncirrhotic livers, highlighting AATD as a potential oncogenic factor. In this exploratory study, we aimed to describe the frequency and characteristics of AATD alleles in patients with HCC arising in noncirrhotic livers. Methods: The two most common pathogenic AATD variants, the Z (SERPINA1 p.Glu366Lys) and S (SERPINA1 p.Glu264Val) alleles, were identified using a multiplex digital polymerase chain reaction (PCR) system in a French cohort of 91 patients who developed HCC in a noncirrhotic liver and without major liver risk factors, including alcohol consumption, viral hepatitis, or metabolic-associated steatohepatitis. Results: We found that 22.83% (21/91) of patients with HCC carried at least one S or Z allele of SERPINA1, a prevalence that was higher than in the general French population (16.9%) and in the UK population with PLC (12%). The distribution of genotypes was heterozygous for the M and S alleles (18/21), heterozygous for the M and Z alleles (2/ 21), and homozygous for the S allele (1/21). Interestingly, AAT globules were observed in nontumoral liver tissue in 7 cases (37%), including individuals heterozygous for the M and S alleles and the individual homozygous for the S allele. Conclusion: Our study provides descriptive data on the presence of S and Z variants of SERPINA1 in patients with HCC arising in noncirrhotic livers, highlighting their potential relevance for further investigation.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 18,
  "authors": [
    {
      "name": "Aurélie Beaufrère"
    },
    {
      "name": "Celine Leon"
    },
    {
      "name": "Marie Decreaker"
    },
    {
      "name": "Laurent Possenti"
    },
    {
      "name": "Manon Evain"
    },
    {
      "name": "Audrey Coilly"
    },
    {
      "name": "Carolin V Schneider"
    },
    {
      "name": "Zoé Feurer"
    },
    {
      "name": "Marie-Françoise Odou"
    },
    {
      "name": "Malika Balduyck"
    },
    {
      "name": "Audrey Payancé"
    },
    {
      "name": "Kai M Schneider"
    },
    {
      "name": "Paulette Bioulac"
    },
    {
      "name": "Jean-Frédéric Blanc"
    },
    {
      "name": "Brigitte Le Bail"
    },
    {
      "name": "Catherine Guettier"
    },
    {
      "name": "Samuel Amintas"
    },
    {
      "name": "Marion Bouchecareilh"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/590bvrte7v06c.bib",
  "cited_by": 0,
  "doi": "10.1016/j.jceh.2026.103545",
  "fulltext_url": null,
  "id": "590bvrte7v06c",
  "issns": [
    "0973-6883"
  ],
  "landing_url": "https://amu.hal.science/hal-05775005v1",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "openalex",
      "2721|Hepatocellular Carcinoma Treatment and Prognosis"
    ]
  ],
  "openalex": "W7148632326",
  "pdf_url": "https://amu.hal.science/hal-05775005/document",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-02",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/590bvrte7v06c.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:46Z",
      "native_id": "hal-05775005",
      "source": "hal",
      "url": "https://amu.hal.science/hal-05775005v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "hal:0.sdv",
      "subfield": "general"
    }
  ],
  "title": "Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort",
  "title_text": "Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:46Z",
  "url": "https://research.draconitic.com/paper/590bvrte7v06c",
  "venue": "Journal of Clinical and Experimental Hepatology",
  "versions": []
}