Teratoma with malignant transformation: A case report with pathological, cytogenetic, and immunohistochemistry analysis

Background. Teratoma with malignant transformation (TMT) is rare and most commonly encountered in adult patient with germ cell tumor (GCT). Method. We report a rare case of testicular teratoma with metastatic TMT/embryonal rhabdomyosarcoma (ERMS). A 44-year-old man underwent right orchiectomy which revealed a malignant teratoma, he subsequently had right pneumonectomy with two pulmonary masses containing a high-grade embryonal rhabdomyosarcoma. The patient developed liver metastasis three months after initial diagnosis. He was treated with a chemotherapy regimen with vincristine, dactinomycin, and cyclophosphamide (VAC) alternating with vincristine and irinotecan (VI) with complete resolution of his liver lesion. The tumors were examined with a battery of cytogenetic, immunohistochemical, and molecular assays. Results. The malignant cells were immunohistochemically positive for desmin, myogenin, and MyoD1. Molecular cytogenetics of embryonal rhabdomyosarcoma tissue revealed the presence of i(12p). The tumor expressed high level of TOPO2A, TOPO1, MRP1, MGMT, BCRP, ERCC1, RRM1, and TS. Conclusion. The activity of topoisomerase inhibitors and the potential usefulness of topoisomerase expression as biomarkers should be further tested in aprospective study.