Work

Targeting mutant VHL-gene results in therapy response in metastatic clear cell carcinoma of rete testis

Year: 2026

Type: article

Abstract: Epididymal and rete testis tumors are exceedingly rare. We report a 69-year-old male who presented with progressive swelling of the right testis/epididymis; histopathology confirmed clear cell carcinoma of the rete testis. Staging with FDG-PET-CT revealed bilateral pulmonary metastases. Subsequent gene panel sequencing identified a pathogenic variant of VHL and a likely pathogenic variant of TP53 . Off-label treatment with belzutifan was initiated. Regression of the pulmonary lesion with ongoing complete remission at 12 months of follow-up was observed. This case highlights the importance of molecular profiling for personalized therapy in rare tumor entities.

Source: Urology Case Reports

DOI: 10.1016/j.eucr.2026.103376

Authors: Michael Karl Melzer, Angelika Mattigk, Verena I. Gaidzik, Nadine Therese Gaisa, Julia Schwenke, Friedemann Zengerling

Institutions: Universität Ulm, University Hospital Ulm

Language: English

Topic: Testicular diseases and treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,160