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

ABSTRACT: 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.

SUBMITTER: Wang J

PROVIDER: S-EPMC3138084 | biostudies-other | 2011

REPOSITORIES: biostudies-other

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

Wang Jue J Kazmi Syed A Jaffar SA

Sarcoma 20110609

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 ...[more]

PMID: 21776193

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Project description:BackgroundExtrapelvic endometriosis is defined as the presence of ectopic endometrial tissue in structures outside the pelvis. Although extra-pelvic endometriosis is generally considered benign conditions, malignant potential within endometriotic foci occurs even after definitive surgery. Malignant transformation of hepatic endometriosis is extremely rare. Preoperative diagnosis of this cancer is difficult, and no guidelines on the optimal management currently exist. Here, we present a case report of malignant transformation of hepatic endometriosis and a brief literature review to highlight the current knowledge of the prevalence, clinical features, diagnosis, and management of this condition.Case presentationA 50-year-old woman with a 2-year duration of progressive right upper quadrant abdominal pain was admitted to the hospital. She underwent hysterectomy and bilateral salpingo-oophorectomy for benign conditions 4 years prior. Tumor markers demonstrated elevated carbohydrate antigen (CA)-199 112U/mL (normal range: 0-35U/mL) only. Radiological imaging suggested the presence of a 10.7 × 7.7-cm mass in the right lobe of the liver extending to the diaphragm. The intraoperative frozen sections suggested malignant tumor. Right hepatectomy with infiltrating diaphragm resection was performed. The final pathology with immunohistochemistry staining confirmed endometrioid adenocarcinoma in the liver originating from preexisting hepatic endometriosis. After the multidisciplinary team meeting, the consensus was surgery followed by adjuvant chemotherapy. To our knowledge, this is the first case of Chinese woman of a malignant liver tumor originating from endometriosis ever reported by reviewing the current English medical literature.ConclusionThough rare, extrapelvic endometriosis-associated cancers should be considered as differentiated diagnosis even after hysterectomy and bilateral salpingo-oophorectomy. This case highlights the importance of collaborative efforts across multiple disciplines for accurate diagnosis and appropriate treatment of malignant transformation of hepatic endometriosis.

Project description:BackgroundIntracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus, visual disturbances, hypopituitarism, and diabetes insipidus. Initial diagnosis can be challenging due to similar radiological features in both teratomas and other lesions such as craniopharyngiomas. Gross total resection is recommended if feasible and associated with a good prognosis.Case descriptionA 10-year-old girl presented with newly diagnosed growth retardation, fatigue, cephalgia and bilateral hemianopia. Further laboratory analysis confirmed central hypothyroidism and hypercortisolism. Cranial magnetic resonance imaging showed a cystic space-occupying lesion in the sellar and suprasellar compartment with compression of the optic chiasm without hydrocephalus present, suspicious of craniopharyngioma. Subsequently, an endonasal endoscopic transsphenoidal near-total tumor resection with decompression of the optic chiasm was performed. During postoperative recovery the patient developed transient diabetes insipidus, the bilateral hemianopia remained unchanged. The patient could be discharged in a stable condition, while hormone replacement for multiple pituitary hormone deficiency was required. Surprisingly, histopathology revealed conspicuous areas of skin with formation of hairs and squamous epithelia, compatible with a mature teratoma.ConclusionsWe present an extremely rare case of pediatric sellar teratoma originating from the pituitary gland and a review of literature focusing on the variation in presentation and treatment. Sellar teratomas are often mistaken for craniopharyngioma due to their similar radiographic appearances. However, the primary goal of treatment for both pathologies is to decompress eloquent surrounding structures such as the optic tract, and if applicable, resolution of hydrocephalus while avoiding damage to the pituitary stalk and especially the hypothalamic structures. If feasible, the aim of surgery should be gross total resection.

Dataset Information

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

Publications

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

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