title: 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.affiliation: *Department of Pathology, National University Health System †Cancer Science Institute, National University of Singapore, Singapore.
authors.forename: Sarika
authors.initials: S
authors.lastname: Gupta
authors.forename: Benedict
authors.initials: B
authors.lastname: Yan
authors.forename: Pay Chin
authors.initials: PC
authors.lastname: Leow
authors.forename: Sze Yung
authors.initials: SY
authors.lastname: Chin
authors.forename: Richie
authors.initials: R
authors.lastname: Soong
authors.forename: Fredrik
authors.initials: F
authors.lastname: Petersson
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004822:Epididymis / Q000378:metabolism / Q000473:pathology; D005834:Genital Neoplasms, Male / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009362:Neoplasm Metastasis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000378:metabolism
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53