睪丸內的細胞血管纖維瘤合併肉瘤轉化，一個罕見疾病的病例報告和文獻回顧

張家郡、楊啟瑞

中國醫藥大學附設醫院 泌尿部

Cellular angiofibroma with sarcomatous transformation in scrotum, a rare case report and literature review

Jia-Jyun Jhang, Chi-Rei Yang

Department of Urology, China Medical University Hospital, Taichung, Taiwan

Introduction: Cellular angiofibroma is a rarely encountered soft tissue tumor primarily affecting the vulvovaginal or inguinoscrotal region. Here, we describe the case of a patient who initially sought medical attention at our hospital for a right scrotal mass. Excision of the intra-scrotal tumor was performed, preserving the testis. Pathological examination confirmed the diagnosis of Cellular angiofibroma with sarcomatous transformation. Subsequent imaging studies revealed no evidence of metastasis or local recurrence after a one-year follow-up period.

Case presentation: A 46-year-old male presented to our hospital with a newly discovered mass in the right scrotum. Physical examination showed a palpable, non-tender mass in right lower scrotum. Scrotal ultrasound revealed a heterogeneous mass measuring 43.51 x 15.76 mm with calcification adjacent to the right testis. Of all the tumor markers examined, only mild elevation of Lactate Dehydrogenase (LDH) was found. Upon exploring the scrotum, the mass seems to have a distinct margin with testis. Testis preservation tumor excision was performed. Pathology report describes proliferation of spindle to oval shaped tumor cells bearing variable-sized, hyperchromatic nuclei and focally surrounding thick walled, hyalinized vessels. Some multinucleated floret-like giant cells, lipoblast-like tumor cells and atypical mitoses are identified. Immunohistochemical analysis revealed positivity for CD34 and estrogen receptor, while being negative for S100 protein and beta-catenin, with focal loss of RB1 expression. Scrotum echo and CT done one year afterwards showed no evidence of tumor recurrence or metastasis.

Discussion and review: Cellular angiofibroma is a rare mesenchymal tumor first documented in 1997 by Nucci et al., with research primarily comprising case series. The tumor is typically located in vulvovaginal or inguinoscrotal region, it commonly manifests as a painless mass, occasionally leading to misdiagnoses such as hernia, hydrocele, or malignancies. Diagnosis relies on histopathological examination, often RB1/FOXO1 deletion is also found. Previous studies suggest a benign course for Cellular angiofibroma, with only one reported case of recurrence. Sarcomatous transformation is a scarce entity in this disease. Though sarcomatous change rises our concern to a malignant presentation, to date there have been no report of distal metastasis of this tumor. Surgical excision with a clear margin remains the preferred treatment approach, although long-term monitoring may still be necessary.