534 Cryptorchidism-associated intratesticular leiomyosarcoma: A rare tumor with diagnostic and therapeutic relevance

Introduction/Objective Primary intratesticular leiomyosarcoma is an exceptionally rare malignancy, with approximately 30 cases reported worldwide. It typically presents in men over the age of 50 as a painless, firm testicular mass, often mimicking more common germ cell tumors. While leiomyosarcoma accounts for about 7% of all soft tissue sarcomas, its occurrence in the male genitourinary tract is uncommon, and primary involvement of the testis is particularly rare. The presence of cryptorchidism in this case adds to its clinical uniqueness, as undescended testes are a known risk factor for various testicular pathologies. This rarity, combined with nonspecific clinical features, makes diagnosis challenging. Histopathological examination and immunohistochemistry are essential for definitive diagnosis. Radical inguinal orchiectomy is the mainstay of treatment, with adjuvant therapy considered in select high-grade or advanced cases. Given the limited number of documented cases, there is no consensus on standard treatment, and further studies are needed to better define optimal management strategies. Methods/Case Report A 50-year-old male with a history of undescended testis presented with a firm, painless testicular mass. He underwent radical inguinal orchiectomy, and histopathology confirmed a diagnosis of primary testicular leiomyosarcoma. Grossly, the specimen consisted of a right testis with attached spermatic cord, measuring 4.0 × 3.0 × 2.5 cm and weighing 20 grams. The tunica was intact. Sectioning revealed a well-circumscribed, firm, tan-white mass within the testicular parenchyma, measuring 2.5 cm in greatest dimension. No gross involvement of the tunica vaginalis, epididymis, or spermatic cord was identified. Microscopy showed interlacing fascicles of spindle cells with eosinophilic cytoplasm and elongated nuclei. Immunohistochemistry was positive for smooth muscle actin, desmin, and H-caldesmon, confirming smooth muscle differentiation. Based on its confinement to the testicular parenchyma and absence of spread to paratesticular structures, the tumor was staged as pT1. Laboratory evaluation revealed elevated LDH, while alpha-fetoprotein (AFP) and β-human chorionic gonadotropin (β-hCG) were within normal limits. Definitive management involved radical inguinal orchiectomy, with adjuvant radiotherapy or chemotherapy considered in select high-grade or advanced cases. Results NA Conclusion This case adds to the limited literature on primary testicular leiomyosarcoma and emphasizes the diagnostic value of histopathology and immunohistochemistry in identifying rare mesenchymal tumors. Given the absence of specific clinical or radiologic features, accurate diagnosis relies heavily on tissue analysis. Early surgical intervention offers the best chance for favorable outcomes. Multidisciplinary collaboration is essential for staging and treatment planning. Although recurrence data for primary testicular leiomyosarcoma is limited, rates as high as 25–50% have been reported in related soft tissue and paratesticular leiomyosarcomas, especially in high-grade tumors. Therefore, long-term clinical and radiologic follow-up is critical to monitor for recurrence and guide further management.