First Molecular Genetic Characterization of Skene's Gland Adenocarcinoma.
Level 4 - case-series / case-control
Single clinical case report with molecular characterization.
PubMed 32795117 · doi:10.1177/1066896920947808
What was done
A 73-year-old woman presented with a 3 x 2 cm polypoid lesion at the interface between the bladder neck and proximal urethra. Following transurethral resection, tissue fragments were analyzed with histology, immunohistochemistry (prostate specific antigen, prostatic acid phosphatase, NKX3.1, and alpha-methylacyl-CoA racemase), next-generation sequencing (Illumina TruSight Tumor 170 assay), and fusion assays (ArcherDX FusionPlex Solid Tumor Kit and FusionPlex Sarcoma kit).
What was found
Histology showed an epithelial neoplasm of cribriform structures located in the subepithelial connective tissue of the bladder wall and proximal urethra. The lesion was positive for prostate specific antigen, prostatic acid phosphatase, NKX3.1, and alpha-methylacyl-CoA racemase. Next-generation sequencing identified a mutation and loss of heterozygosity in the PTEN gene. No gene fusions were detected.
Why it matters
This provides the first molecular genetic profiling of a Skene's gland adenocarcinoma, providing evidence of PTEN alteration in female prostatic-homologue malignancy.
Limits
This report describes only a single patient (n = 1). The rarity of the condition leaves optimal treatment strategies, grading, and prognostic criteria uncertain.
Cited by
- supports Skene's glands are the female anatomical homologue of the male prostate.