The following is a summary of “Testicular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature,” published in the May 2023 issue of the Urologic Oncology by Philips et al.

Persistent Mullerian duct syndrome (PMDS) is a rare sexual differentiation disorder caused by abnormalities in the Mullerian inhibiting factor (MIF) pathway, failing embryonic Mullerian duct regression. The simultaneous presence of undescended testis increases the likelihood that these patients will develop testicular malignancies. Due to its rarity, clinicopathologic and treatment outcome data on testicular cancer in PMDS are limited. The researchers present their institution’s experience with testicular malignancy in PMDS and review the relevant published literature. 

Between January 1980 and January 2022, they retrospectively queried their institution’s testicular cancer database for all patients diagnosed with testicular cancer and PMDS. In addition, a search was conducted in Medline/PubMed for English-language articles published during the same period. In addition to treatment and prognosis, pertinent clinical, radiologic, and pathologic disease characteristics were extracted. About 4 of the 637 patients treated for testicular malignancies at their institution during the specified period also had a diagnosis of PMDS. About 3 cases of testicular tumor were validated pathologically as seminoma, while one was a mixed germ cell tumor. 

In addition to surgery, all patients in their series presented with stage 2B or higher disease and required neoadjuvant or adjuvant chemotherapy. After an average of 67 months of follow-up, all patients were disease-free. A search of Medline/PubMed yielded 44 articles (49 patients) on testicular tumors associated with PMDS, the majority (59%) of which presented with a large abdominal mass. Only 5 cases (10%) had a history of adequately treated cryptorchidism. In PMDS, testicular cancer typically manifests in adults with advanced-stage disease due to neglectful or insufficient management of cryptorchidism. The appropriate direction of cryptorchidism in childhood is likely to reduce malignant degeneration and, if not, to permit early-stage diagnosis.

Source: sciencedirect.com/science/article/abs/pii/S1078143923000820