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Related Experiment Videos

Replication error-positive samples found in pheochromocytomas.

Nives Pecina-Slaus1, Tamara Nikuseva-Martic, Koraljka Gall-Troselj

  • 1Department of Biology, School of Medicine, University of Zagreb, Salata 3, HR-10000 Zagreb, Croatia. nina@mef.hr

In Vivo (Athens, Greece)
|March 31, 2005
PubMed
Summary

Genetic instabilities in E-cadherin (CDH1) and APC genes are linked to pheochromocytoma development. Mismatch repair may be a therapeutic target, and the wnt signaling pathway appears involved in this cancer.

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Area of Science:

  • Oncology
  • Molecular Genetics
  • Cancer Biology

Background:

  • Adenomatous polyposis coli (APC) and E-cadherin (CDH1) are tumor suppressor genes crucial for cell adhesion and wnt signaling.
  • These genes play roles in various cancers, including their potential involvement in pheochromocytoma.

Purpose of the Study:

  • To investigate genetic instabilities in APC and CDH1 genes in human pheochromocytoma.
  • To explore the role of c-myc protein expression and potential therapeutic targets in pheochromocytoma.

Main Methods:

  • Analysis of gene instability in 15 sporadic pheochromocytomas using PCR/loss of heterozygosity.
  • Immunohistochemistry was employed to detect c-myc protein levels.

Main Results:

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  • Allelic imbalances were detected in APC (1 sample) and CDH1 (1 sample) genes.
  • Replication error-positive (RER+) samples, indicating impaired mismatch repair, were found in 30.8% of heterozygous samples.
  • Increased c-myc protein expression was observed in pheochromocytoma compared to normal adrenal tissue.

    • Conclusions:

    • Microsatellite genetic instabilities of the E-cadherin gene are implicated in pheochromocytoma development and progression.
    • The findings suggest that targeting mismatch repair could be a viable strategy for pheochromocytoma treatment.
    • Aberrant APC and CDH1 gene expression, along with elevated c-myc, points to the involvement of the wnt signaling pathway in pheochromocytoma pathogenesis.