Renal and extrarenal congenital rhabdoid tumor: diagnosis by fine-needle aspiration biopsy and FISH.
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.
Department of Pathology, Hospital de Niños Superiora Sor María Ludovica, La Plata, Argentina. patologi@netverk.com.ar
Ricardo
R
Drut
Rosa Mónica
RM
Drut
D001707:Biopsy, Needle; D002610:Cheek / Q000473:pathology* / Q000502:physiology; D017809:Fatal Outcome; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology*; D007680:Kidney Neoplasms / Q000151:congenital / Q000378:metabolism / Q000473:pathology*; D015513:Oncogene Proteins / Q000096:biosynthesis; D011505:Protein-Tyrosine Kinases; D011518:Proto-Oncogene Proteins; D051562:Proto-Oncogene Proteins c-bcr; D018335:Rhabdoid Tumor / Q000151:congenital / Q000378:metabolism / Q000473:pathology*
D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr