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Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins

Dinesh Rakheja1, Payal Kapur, Gail E Tomlinson

  • 1Department of Pathology, Children's Medical Center and University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. dinesh.rakheja@utsouthwestern.edu

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|December 6, 2005
PubMed

Insights

In pediatric renal cell carcinoma with Xp11.2 rearrangements, DNA mismatch repair genes hMLH1 and hMSH2 remain active. This study found no evidence that their inactivation contributes to tumor development in these specific pediatric kidney cancers.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Alveolar soft part sarcoma (ASPS) and pediatric renal cell carcinoma (pRCC) share the t(X;17)(p11.2;q25) chromosomal abnormality.
  • Inactivation of DNA mismatch repair genes (hMLH1, hMSH2) has been implicated in ASPS pathogenesis.
  • The role of these genes in pRCC with Xp11.2 rearrangements is not fully understood.

Purpose of the Study:

  • To investigate the status of DNA mismatch repair genes hMLH1 and hMSH2 in pediatric renal cell carcinomas with Xp11.2 rearrangements.
  • To determine if the inactivation of hMLH1 and hMSH2 plays a role in the tumorigenesis of these specific pRCC cases.

Main Methods:

  • Immunohistochemistry was used to assess the expression of hMLH1 and hMSH2 proteins.
  • The study analyzed 4 cases of pediatric renal cell carcinoma exhibiting Xp11.2 rearrangements.

Main Results:

  • All analyzed pediatric renal cell carcinoma cases demonstrated nuclear immunoreactivity for both hMLH1 and hMSH2 proteins.
  • The observed staining for hMLH1 and hMSH2 was patchy, indicating retained protein expression.

Conclusions:

  • Inactivation of DNA mismatch repair genes hMLH1 and hMSH2 does not appear to be involved in the development of pediatric renal cell carcinomas with Xp11.2 rearrangements.
  • The findings suggest that alternative molecular pathways are likely responsible for tumorigenesis in this specific subtype of pRCC.

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