Primary Mucinous Adenocarcinoma of the Epididymis

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.

Clinicopathological Characteristics, Treatment, and Prognosis of Rarely Primary Epididymal Adenocarcinoma: A Review and Update

“…Relationship between PEA and von Hippel-Lindau disease (VHLD) is not clear with only one case revealing such association [ 7 ], and thus detection of the VHL gene mutation is not recommended routinely at diagnosis. TP53 gene mutation was detected in a PEA [ 8 ].…”

“…It is whitish or tan-yellow and hard. Necrosis, or invasion of surrounding soft tissue, testis, or spermatic cord, is likely to be observed [ 3 , 4 , 8 ].…”

“…Clear cell papillary cystadenocarcinoma of the epididymis, which has positive CK7, negative RCC marker, and focal immunoreactivity to CD10, can be distinguished from metastatic clear cell renal cell carcinoma (ccRCC) [ 5 ]. By contrast, CK7 staining is reportedly negative in mucinous and poorly differentiated adenocarcinoma of the epididymis [ 8 , 9 ]. Prostate specific antigen (PSA), placental alkaline phosphatase (PAP), S100, vimentin, alpha fetoprotein (AFP), calretinin, and leukocyte common antigen staining can be performed to exclude other types of tumors including metastatic prostate cancer, melanoma, sarcoma, testicular tumor, mesothelioma, and lymphoma.…”

“…Distant metastasis is also the main cause of death after surgery; patients usually die 6 to 8 months later after distant metastasis [ 4 , 11 ]. Chemotherapy may delay the tragic end [ 8 ].…”

“…TP53 gene mutation is likely to be related to poor prognosis of a PEA [ 8 ]. The reported treatment and prognosis of PEA are summarized in Table 5 .…”