Original ArticlesCongenital Disseminated Malignant Rhabdoid Tumor A Distinct Clinicopathologic Entity Demonstrating Abnormalities of Chromosome 22q11White, Frances V., M.D.; Dehner, Louis P., M.D.; Belchis, Deborah A., M.D.; Conard, Katrina, M.D.; Davis, Mary M., M.D.; Stocker, J. Thomas, M.D.; Zuppan, Craig W., M.D.; Biegel, Jaclyn A., Ph.D.; Perlman, Elizabeth J., M.D.Author Information From the Departments of Pathology, Lauren V. Ackerman Laboratory of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (F.V.W., L.P.D.), Division of Human Genetics and Molecular Biology, Penn State College of Medicine, Hershey, Pennsylvania (D.A.B), Alfred I. duPont Institute, Wilmington, Delaware (K.C.), Indiana University Medical Center, Indianapolis, Indiana (M.M.D), Uniform Services University of Health Sciences, Bethesda, Maryland (J.T.S.), Loma Linda University, Loma Linda, California (C.W.Z.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (J.A.B.), and Johns Hopkins Medical Institutions, Baltimore, Maryland (E.J.P.). Address correspondence and reprint requests to Dr. Frances V. White, Division of Surgical Pathology, Box 8118, Washington University Medical Center, 660 South Euclid Avenue, St. Louis, MO 63110-1093, USA. The American Journal of Surgical Pathology: March 1999 - Volume 23 - Issue 3 - p 249-256 Buy Abstract The clinical, pathologic, and immunohistochemical features of a widely disseminated tumor with rhabdoid phenotype are described in nine infants ≤3 months of age. Five neonates had tumor evident at birth, two of which had placental metastases. The average survival following diagnosis was <6 weeks. None of the infants had an apparent primary tumor in either the kidney or brain. In four cases, the dominant mass involved the head and neck region, and in two cases, the primary mass was paraspinal. The histologic features were those of a high-grade, round cell neoplasm with abundant cytoplasm and containing cells with cytoplasmic filamentous inclusions. Immunohistochemical studies revealed polyphenotypic antigen expression. Genetic information was available from eight of nine cases. Karyotype analysis revealed abnormalities of chromosome band 22q11-12 in three of six tumors. Fluorescence in situ hybridization studies or molecular studies demonstrated 22q11.2 deletions in all five cases with available frozen tissue, two of which had translocations involving 22q by karyotype analysis. The similar clinical and pathologic findings in these rapidly fatal tumors in infants and the demonstration of abnormalities of chromosome 22q11 in a majority of the cases supports their histogenetic and nosologic relationship to the family of malignant rhabdoid tumors that typically occur in young children in several anatomic sites, including kidney, soft tissues, liver, and brain. Like neuroblastoma and rhabdomyosarcoma, malignant rhabdoid tumor can appear as disseminated disease at birth or shortly thereafter. © 1999 Lippincott Williams & Wilkins, Inc.