Primary mucinous adenocarcinoma of the epididymis: report of a rare case with molecular genetic characterization including mutation analysis of the TP53 gene.

Abstract

We report a case of primary epididymal mucinous adenocarcinoma in a 60-year-old man who presented with a scrotal mass and subsequently developed pulmonary metastases. On immunohistochemistry the tumor was positive for villin and CK20 and negative for CK7, CDX2, and thyroid transcription factor-1. Molecular genetic analysis revealed an uncommon mutation; 249: AGG →ATG in the TP53 gene, which has not been previously described in association with a primary epididymal adenocarcinoma. Mutational analysis showed KRAS, BRAF, and VHL to be wild-type. No microsatellite instability was found.

• Authors: Sarika Gupta, Benedict Yan, Pay Chin Leow, Sze Yung Chin, Richie Soong, Fredrik Petersson
• Journal: Applied immunohistochemistry & molecular morphology : AIMM (Appl Immunohistochem Mol Morphol) Vol. 23 Issue 4 Pg. 308-12 (Apr 2015) ISSN: 1533-4058 [Electronic] United States
• PMID: 25839701 (Publication Type: Case Reports, Journal Article)

Chemical References

• TP53 protein, human
• Tumor Suppressor Protein p53

Topics

• Adenocarcinoma, Mucinous (genetics, metabolism, pathology)
• Epididymis (metabolism, pathology)
• Genital Neoplasms, Male (genetics, metabolism, pathology)
• Humans
• Lung Neoplasms (genetics, metabolism, pathology, secondary)
• Male
• Middle Aged
• Mutation
• Neoplasm Metastasis
• Tumor Suppressor Protein p53 (genetics, metabolism)