Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis.
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.
Fernandez
C
C
Service d'Anatomie Pathologique et de Neuropathologie, CHU Timone, 264 rue Saint-Pierre, 13385 Marseille cédex 05, France.
Bouvier
C
C
Sévenet
N
N
Liprandi
A
A
Coze
C
C
Lena
G
G
Figarella-Branger
D
D
D014408:Biomarkers, Tumor / Q000032:analysis; D002528:Cerebellar Neoplasms / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D004273:DNA, Neoplasm / Q000032:analysis; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D008279:Magnetic Resonance Imaging; D008527:Medulloblastoma / Q000473:pathology*; D018335:Rhabdoid Tumor / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D013125:Spinal Neoplasms / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D014430:Twins, Monozygotic
D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm