Germ-line and acquired mutations of the hSNF5/INI1 tumor suppressor gene have been reported in central nervous system (CNS), renal, and soft-tissue rhabdoid tumors. The present study was designed to compare the types of INI1 alterations among tumors from diverse anatomical sites and identify mutation hot spots. Fluorescence in situ hybridization and PCR-based microsatellite, heteroduplex, and s...

We report a rare case of primary vulval rhabdoid tumor in an adult. The diagnosis was confirmed using the recently emerging INI1/BAF47 immunostain. We also demonstrate the expression of ER and PR hormonal receptors by the tumor cells.

A newborn girl presented with massive proptosis of the right eye. Physical and radiologic examination disclosed that the primary orbital mass was confined to the site. A diagnosis of malignant rhabdoid tumor was made by histopathologic examination of an incisional biopsy specimen. Exenteration was performed, and the resection margins were free from tumor cells. However, distant metastasis devel...

Rhabdoid colonic tumors are very rare lesions with just a few publications describing such neoplasms. Even more unusual for these lesions are their primary rectal locations, with only two brief case reports having been published on that subject to date. We present a case of a composite rhabdoid rectal carcinoma in a 49-year-old male. The tumor behaved very aggressively, with rapid patient demis...

Purpose. The objective of this study is to report a case of a rare, highly lethal tumor, extrarenal malignant rhabdoid tumor (EMRT) in a 43-year-old man who initially presented with a local recurrence and is now continuously disease free 14 years after aggressive surgical treatment. The case and literature are discussed.

The new World Health Organization (WHO) classification of nervous system tumors, published in 2000, emerged from a 1999 international consensus conference of neuropathologists. New entities include chordoid glioma of the third ventricle, cerebellar liponeurocytoma, atypical teratoid/rhabdoid tumor, and perineurioma. Several histological variants were added, including tanycytic ependymoma, large...

Malignant rhabdoid tumor (MRT), originally described as a sarcomatous variant of Wilms' tumor, is now recognized as a distinct, highly malignant entity. The authors describe, for the first time, a primary tumor of the orbit with histologic, immunohistochemical, and ultrastructural features of MRT. Their findings suggest both epithelial and mesenchymal differentiation of this unique tumor.

Rhabdoid tumours (RTs) are rare, highly aggressive tumours of undetermined origin in humans, and are sub-classified as renal/extrarenal RTs depending on location. The origins of extrarenal rhabdoid tumours are an enigma and neoplasms have rarely been reported in non-primate species. An 11-year-old male Maltese dog was presented with a submandibular mass. Histologically, the mass was composed of...

OBJECTIVE Atypical teratoid/rhabdoid tumors are aggressive neoplasms of the central nervous system occurring mainly in the early childhood and rarely in adults. We described a case of this tumor in an 18-year-old male patient without previous medical history. MATERIAL AND METHODS The neoplasm was localized in the right frontotemporal area of the brain and was totally excised. The specimen was...