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Abnormal nucleotide repeat sequence in the TGF-betaRII gene in hepatocellular carcinoma and in uninvolved liver

A Enomoto1, M Esumi, K Yamashita

  • 1Department of Pathology, Nihon University School of Medicine, Tokyo 173-8610, Japan.

The Journal of Pathology
|October 24, 2001
PubMed

Insights

Replication error (RER)-related genetic alterations in the TGF-betaRII gene were found in some hepatocellular carcinoma (HCC) patients, indicating potential gene and tissue-specific instability during carcinogenesis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Replication error (RER)-related genetic alterations are linked to a subset of hepatocellular carcinomas (HCCs), particularly those with multiple primary cancers.
  • Understanding genetic mutations in specific genes is crucial for comprehending hepatocarcinogenesis.

Purpose of the Study:

  • To investigate mutations in nucleotide repeats of three genes (TGF-betaRII, BAX, IGF-IIR) associated with RER in hepatocarcinogenesis.
  • To determine if these mutations are linked to HCC development, especially in patients with multiple primary cancers.

Main Methods:

  • Examined tumor and non-tumor hepatic tissues from 48 HCC patients (34 solitary, 14 with gastric cancer).
  • Analyzed nucleotide repeat sequences in TGF-betaRII, BAX, and IGF-IIR genes.
  • Compared genotypes between liver tumor, non-tumor liver tissue, and gastric cancer specimens.

Main Results:

  • Abnormal signals in the TGF-betaRII gene's poly A tract were observed in 4 out of 6 RER-positive double-cancer cases.
  • Genotypes like (A)9/10 and (A)9/9 were found in HCC tissue, with similar abnormalities also present in non-tumor liver tissue.
  • No mutations were detected in the BAX or IGF-IIR genes.
  • Gastric cancer tissues showed a normal (A)10/10 genotype, ruling out germline mutations in TGF-betaRII.

Conclusions:

  • Genetic instability in the TGF-betaRII gene's nucleotide repeat is associated with a subset of HCCs, particularly in patients with multiple primary cancers.
  • This genetic abnormality can occur in both tumor and non-tumor liver tissues, suggesting gene-specific and tissue-specific instability.
  • The findings highlight the role of specific genetic alterations in hepatocarcinogenesis and multi-cancer development.

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