Potential diagnostic utility of CDX-2 immunophenotyping in extramammary Paget's disease

Appl Immunohistochem Mol Morphol. 2005 Dec;13(4):342-6. doi: 10.1097/01.pai.0000163989.12896.d2.

Abstract

Extramammary Paget's disease (EMPD) is a rare condition whose importance is amplified by its association with either cutaneous or internal malignancy. Recently it has been shown that EMPD is not a single disease but can be divided into cutaneous and endodermal subtypes. The authors studied 12 new cases of immunohistochemically well-characterized EMPD, including HER-2/neu and CDX-2 immunophenotyping. The latter represents a novel application of this nuclear transcription factor, considered to be a relatively specific IHC marker for gastrointestinal-type epithelium. Cutaneous EMPD, accounting for 10 of the 12 (83%) cases, was CDX2-/HER2+; endodermal EMPD, accounting for 2 of the 12 (17%) cases, was CDX2+/HER2-. Four of the 12 cases (33%) were associated with a malignancy (two cutaneous adenocarcinomas, two colorectal carcinomas). The two cases of cutaneous adenocarcinoma occurred in the cutaneous group (2/10 [20%]), while the two cases of rectal carcinoma (one invasive, one in situ) occurred in the endodermal group (2/2 [100%]). Since EMPD subtypes have specific implications with regard to cancer risk, immunophenotyping should be performed in all cases. CDX-2 immunoreactivity may be useful in the subtyping of EMPD.

MeSH terms

  • CDX2 Transcription Factor
  • Female
  • Homeodomain Proteins / analysis*
  • Humans
  • Immunophenotyping*
  • Male
  • Paget Disease, Extramammary / classification*
  • Paget Disease, Extramammary / diagnosis*
  • Paget Disease, Extramammary / immunology
  • Receptor, ErbB-2 / analysis
  • Retrospective Studies
  • Trans-Activators / analysis*

Substances

  • CDX2 Transcription Factor
  • Homeodomain Proteins
  • Trans-Activators
  • Receptor, ErbB-2