Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis

• Published in: The American journal of surgical pathology Vol. 26; no. 2; p. 266
• Main Authors: Fernandez, C, Bouvier, C, Sévenet, N, Liprandi, A, Coze, C, Lena, G, Figarella-Branger, D
• Format: Journal Article
• Language: English
• Published: United States 01.02.2002
• Subjects: Biomarkers, Tumor - analysis; Cerebellar Neoplasms - congenital; Cerebellar Neoplasms - genetics; Cerebellar Neoplasms - pathology; Diagnosis, Differential; Diseases in Twins; DNA, Neoplasm - analysis; Fatal Outcome; Female; Gene Deletion; Germ-Line Mutation; Humans; Immunoenzyme Techniques; Infant; Magnetic Resonance Imaging; Medulloblastoma - pathology; Rhabdoid Tumor - congenital; Rhabdoid Tumor - genetics; Rhabdoid Tumor - pathology; Spinal Neoplasms - congenital; Spinal Neoplasms - genetics; Spinal Neoplasms - pathology; Twins, Monozygotic
• ISSN: 0147-5185
• DOI: 10.1097/00000478-200202000-00016

Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to the inactivation of the hSNF5/INI1 gene. A subset of cerebral tumors, associated with malignant rhabdoid tumors or isolated ones arising in siblings, showed similar molecular alterations. We report for the first time in monozygotic twins a congenital disseminated malignant rhabdoid tumor in one twin and a cerebellar tumor mimicking a medulloblastoma in the other. Molecular analysis revealed similar alterations for both tumors: a deletion of exon 7 of the hSNF5/INI1 gene in one allele, and a point mutation in the same exon in the other, suggesting a common genetic pathway. Analysis of constitutional DNA revealed a germline mutation. These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy.