Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma

Hillary Elwood1, Alcides Chaux, Luciana Schultz

  • 1Department of Pathology, Johns Hopkins University, Baltimore, Maryland 21231-2410, USA.

Urology
|June 28, 2011
PubMed
Abstract

Insights

Collecting duct carcinoma (CDC) shows SMARCB1/INI1 gene loss in 15% of cases. This loss did not correlate with clinical features, suggesting potential genetic alterations in some rare renal tumors.

Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Collecting duct carcinoma (CDC) is a rare, aggressive renal tumor.
  • CDC shares morphologic overlap with renal medullary carcinoma.
  • SMARCB1/INI1 gene loss is implicated in pediatric rhabdoid tumors and renal medullary carcinoma.

Purpose of the Study:

  • To assess SMARCB1/INI1 expression in Collecting duct carcinoma (CDC).
  • To investigate the potential role of SMARCB1/INI1 alterations in CDC pathogenesis.
  • To evaluate the utility of SMARCB1/INI1 immunoexpression in differentiating CDC from renal medullary carcinoma.

Main Methods:

  • A tissue microarray was constructed from 20 archival CDC cases.
  • Immunohistochemistry using BAF47 antibody assessed SMARCB1/INI1 expression.
  • Nuclear staining intensity and pattern were evaluated.

Main Results:

  • Complete loss of SMARCB1/INI1 expression was found in 3 out of 20 (15%) CDC cases.
  • Three additional cases showed focal, weak staining.
  • No significant differences in clinicopathologic or outcome features were observed based on SMARCB1/INI1 status.

Conclusions:

  • Complete SMARCB1/INI1 loss occurs in 15% of CDC, suggesting potential genetic alterations.
  • SMARCB1/INI1 status did not correlate with clinical or outcome features in this cohort.
  • SMARCB1/INI1 immunoexpression has limited differential diagnostic value between CDC and renal medullary carcinoma, pending further validation.

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