Case Of Extrarenal Rhabdoid Tumor Research Articles

Malignant Rhabdoid Tumour of the Perineum in an Adult—A Rare Presentation

Rhabdoid tumors of extrarenal origin are uncommon. This is the first report of rhabdoid tumor presenting as a perineal mass. Furthermore, it is a disease of childhood, with adult presentation being rare. We report a case of extrarenal rhabdoid tumor and discuss its presentation and possible treatment options.

Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis

Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.

Primary rhabdoid cancer of the ileum: A case report and review of the literature

Since the first publication of a rhabdoid cancer, described as an infrequent variant of Wilms’ tumor, several cases of extrarenal rhabdoid tumor have been reported in the literature. Here, we report on a primary rhabdoid cancer of the small intestine, and give a review of the data available in the literature. An 81-year-old male patient was admitted to the Department of Internal Medicine with subileus and bloody stools. While gastroscopy and colonoscopy failed to identify a neoplastic disease, abdominal US and CT raised the suspicion of a malignancy involving the descending colon. Ileus-mandated laparotomy disclosed an obstructive tumor of the ileum. This segment was resected, followed by several relapses, and the patient died after a 7-month-period of non-relenting deterioration. Histological work-up of the numerous biopsies disclosed a cellular, solid, necrotic, hemorrhagic, and invasive tumor. The cancer cells were round-to-polygonal, and scattered bizarre pleomorphic cells with prominent nucleoli were common. The overall appearance of the neoplasm was highly similar in every specimen. The immunohistochemical phenotype of the malignant cells indicated rhabdoid characteristics. A thorough search of the literature revealed additional 22 cases of primary rhabdoid GI cancers. This report aims to call the pathologist's attention to the differential diagnostic importance of this entity.