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Biomedical subjects

Norman Q Walford

Publications and source records attributed to Norman Q Walford.

3 recordsLinked to original sources

Giant mixed-type perinephric liposarcoma.

Retroperitoneal fatty tumours are uncommon occurrences in current urologic practice, the differentials being lipomas, liposarcomas and extra-renal angiomyolipomas (AML). We report an unusual case of a 48-year-old Chinese female who presented with a 6.2 kg giant mixed-type liposarcoma in the left perinephric space, invading into the renal cortex and parenchyma. Extirpative surgery with left radical nephrectomy was performed, and histology confirmed liposarcoma with both myxoid and well-differentiated elements. The patient remains well and disease-free at 6-month follow-up. We review the literature on the diagnosis and management of these perinephric lipomatous lesions. We also discuss the diagnostic dilemma in differentiating such malignancies from benign angiomyolipomas in the perinephric area on conventional radiological imaging, and its direct implications with respect to extent of surgery and renal preservation.

Female↗

Infantile myofibromatosis: a case report and review of the literature.

Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative; however, visceral involvement may be fatal. We present a case of infantile myofibromatosis in a 1-year-old boy and review the literature.

Humans↗

Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome.

The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. The tumors associated with the syndrome include atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, medulloblastoma, and extrarenal rhabdoid tumor. Rhabdoid tumor of the kidney (RTK) has not been described as part of the RPS. We report a case of a 7-month-old boy with RTK whose sister had a malignant cerebellar tumor followed by a malignant lung and pleural tumor of childhood with typical rhabdoid histology. Molecular genetic analysis of the RTK and tissue from the pleural tumor revealed in both cases identical nonsense mutations of the hSNF5/INI1 gene on chromosome 22q11.2, where thymidine was substituted for cytosine in base 472. The proband had an identical germline mutation. This is the fifth genetically analyzed RPS pedigree and the first to include an RTK.

Cerebellar Neoplasms↗