FULMINANT HEPATITIS ASSOCIATED APLASTIC ANEMIA PRESENTED CONCOMITANTLY WITH LIVER INJURY AND AFFECTED BY LIVER TRANSPLANTATION: A CASE SERIES

transplantation.This study compares clonal architecture and disease trajectory in idiopathic AA and HA-AA.Methods: All samples were evaluated using flow cytometry.HA-AA samples, including longitudinal ones, underwent T-cell receptor beta (TRB) sequencing (EuroClonality-NGS protocol) and whole exome sequencing (WES).In idiopathic AA patients with suspected germline predisposition, WES or panel sequencing was performed.Results: HA-AA is characterised by a predominance of activated (HLA-DR) CD8 T cells, unlike idiopathic AA, which typically lacks increased HLA-DR expression and CD8 dominance, suggesting a distinct pathogenesis.No differences were found between RCC and AA histological subtypes.WES revealed no monogenic cause in HA-AA but detected variants of unknown significance, including CXCR4, ASXL1, WRAP53, and ACD.No variants of interest were detected in the AA group.TRB sequencing in HA-AA showed variable clonal expansion at diagnosis, with diversification following successful treatment in most-but not all -patients.Persistence of expanded clones did not necessarily portend poor response.CDR3 amino acid sequences were largely private, with occasional matches to viral antigen-associated sequences, such as CMV.Conclusions: HA-AA is associated with a distinct immunophenotypic and genotypic pattern irrespective of histology.HA-AA is marked by elevated activated CD8 cells, detectable in peripheral blood during preceding hepatitis.

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Publication Details

Journal
EJC Paediatric Oncology
Published
2025-11-05
DOI
https://doi.org/10.1016/j.ejcped.2025.100364
Primary Topic
Liver Disease and Transplantation
Type
article
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article

FULMINANT HEPATITIS ASSOCIATED APLASTIC ANEMIA PRESENTED CONCOMITANTLY WITH LIVER INJURY AND AFFECTED BY LIVER TRANSPLANTATION: A CASE SERIES

Jiří Froněk, Martina Suková, Michaela Komonova
EJC Paediatric Oncology
Liver Disease and Transplantation
article

FULMINANT HEPATITIS ASSOCIATED APLASTIC ANEMIA PRESENTED CONCOMITANTLY WITH LIVER INJURY AND AFFECTED BY LIVER TRANSPLANTATION: A CASE SERIES

Jiří Froněk, Martina Suková, Michaela Komonova
article en

Abstract

transplantation.This study compares clonal architecture and disease trajectory in idiopathic AA and HA-AA.Methods: All samples were evaluated using flow cytometry.HA-AA samples, including longitudinal ones, underwent T-cell receptor beta (TRB) sequencing (EuroClonality-NGS protocol) and whole exome sequencing (WES).In idiopathic AA patients with suspected germline predisposition, WES or panel sequencing was performed.Results: HA-AA is characterised by a predominance of activated (HLA-DR) CD8 T cells, unlike idiopathic AA, which typically lacks increased HLA-DR expression and CD8 dominance, suggesting a distinct pathogenesis.No differences were found between RCC and AA histological subtypes.WES revealed no monogenic cause in HA-AA but detected variants of unknown significance, including CXCR4, ASXL1, WRAP53, and ACD.No variants of interest were detected in the AA group.TRB sequencing in HA-AA showed variable clonal expansion at diagnosis, with diversification following successful treatment in most-but not all -patients.Persistence of expanded clones did not necessarily portend poor response.CDR3 amino acid sequences were largely private, with occasional matches to viral antigen-associated sequences, such as CMV.Conclusions: HA-AA is associated with a distinct immunophenotypic and genotypic pattern irrespective of histology.HA-AA is marked by elevated activated CD8 cells, detectable in peripheral blood during preceding hepatitis.

EJC Paediatric OncologyVol. 6
University Hospital in Motol (CZ), Institute of Clinical and Experimental Medicine (CZ)
Openalex Percentile: Top 57%
Liver Disease and Transplantation
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FULMINANT HEPATITIS ASSOCIATED APLASTIC ANEMIA PRESENTED CONCOMITANTLY WITH LIVER INJURY AND AFFECTED BY LIVER TRANSPLANTATION: A CASE SERIES — Jiří Froněk, Martina Suková, et al. · EJC Paediatric Oncology (2025) | TGRS Research Map | TGRS