DICER1 Syndrome in a 25-Year-Old Female: Autopsy Case Report of Mixed Sex Cord-Stromal and Primitive Sarcoma Tumors with Diverse Differentiation Patterns

Abstract Introduction/Objective DICER-1 syndrome is a rare disorder characterized by germline mutations in the DICER1 gene, known to confer a lifetime risk of developing a variety of benign and malignant pathologies. This syndrome typically affects young individuals, though it exhibits exceedingly variable and relatively low penetrance of the neoplastic manifestations. Methods/Case Report We report on a 25-year-old woman with a history of metastatic DICER-1 related mixed pattern sex-cord stromal tumor of the ovary and primitive sarcoma of the liver. Her treatment involved extensive surgeries, including oophorectomy, salpingectomy, and partial hepatectomy, and multiple cycles of chemotherapy. Antemortem surgical pathological analyses revealed a poorly differentiated, primitive sarcoma in the liver and a sex cord-stromal tumor with Sertoli-Leydig and juvenile granulosa cell tumor-like features. The liver tumor exhibited a primitive spindle cell sarcoma with anaplastic features as well as chondrosarcomatous and rhabdomyosarcomatous patterns, suggesting a primary DICER1-related sarcoma. Immunohistochemistry confirmed the tumor’s complex multilineage differentiation, showing variable positivity for CD99, vimentin, CD10, BCL2, and Glypican-3. Positivity for Desmin and MyoD1 was focal, while the tumor was negative for inhibin, calretinin, AE1/3, AFP, and beta-catenin, overall supporting a DICER1-associated sarcoma diagnosis. She eventually died from terminal cardiac arrest secondary to complications from her metastatic cancer. An autopsy revealed a significant abdominopelvic mass leading to hemoperitoneum and extensive organ involvement, highlighting the aggressive nature of DICER1-associated malignancies. Results (if a Case Study enter NA) NA Conclusion This case underscores the importance of recognizing the broad manifestations of DICER-1 syndrome for accurate diagnosis, genetic counseling, and tailored management. Highlighting tumor morphology and immunohistochemical features enriches our understanding of DICER-1 pathology, advancing diagnosis and treatment prospects for affected individuals.