Renal and extrarenal congenital rhabdoid tumor: Diagnosis by fine-needle aspiration biopsy and FISH

✍ Scribed by Ricardo Drut; Rosa Mónica Drut

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 189 KB
• Volume: 27
• Category: Article
• ISSN: 8755-1039
• DOI: 10.1002/dc.10040

✦ Synopsis

We report on 2 patients with congenital malignant rhabdoid tumor, one located to the kidney and the other to the soft parts of the cheek. Initial diagnosis was performed through percutaneous fine-needle aspiration biopsies, which yielded cytologic smears exhibiting highly characteristic rhabdoid cells, i.e., cells with a large, vesicular nucleus with a prominent nucleolus and cytoplasm exhibiting a large, dense, paranuclear inclusion. Interphase FISH demonstrated only one signal (heterozygous deletion) for the BCR gene in both cases, supporting the diagnosis. Surgical pathology and immunohistochemistry of both cases confirmed the diagnosis. Both patients died within the following 6 mo to 1 yr.