Chromosome 22q dosage in composite extrarenal rhabdoid tumors: Clonal evolution or a phenotypic mimic?

Composite extrarenal rhabdoid tumors (CERTs) represent a diverse group of neoplasms with rhabdoid shape in combination with one of several distinctive tumor types. Like the classic renal and extrarenal malignant rhabdoid tumor (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the cen...

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Bibliographic Details
Published in:Human pathology 2001-10, Vol.32 (10), p.1102-1108
Main Authors: Fuller, Christine E., Pfeifer, John, Humphrey, Peter, Bruch, Leslie A., Dehner, Louis P., Perry, Arie
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
atypical teratoid/rhabdoid tumor
Biological and medical sciences
Biomarkers, Tumor - analysis
Child, Preschool
chromosome 22
Chromosome Mapping
Chromosomes, Human, Pair 22
Clone Cells
Dermatology
divergent differentiation
Female
Gene Deletion
Gene Dosage
Humans
Immunohistochemistry
in situ hybridization
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Medical sciences
Middle Aged
Neoplasm Proteins - analysis
Neoplasms - chemistry
Neoplasms - genetics
Neoplasms - pathology
Neoplasms - surgery
Neurology
Phenotype
rhabdoid tumor
Rhabdoid Tumor - chemistry
Rhabdoid Tumor - genetics
Rhabdoid Tumor - pathology
Rhabdoid Tumor - surgery
Teratoma - chemistry
Teratoma - genetics
Teratoma - pathology
Teratoma - surgery
Tumors of the nervous system. Phacomatoses
Tumors of the skin and soft tissue. Premalignant lesions
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Summary:Composite extrarenal rhabdoid tumors (CERTs) represent a diverse group of neoplasms with rhabdoid shape in combination with one of several distinctive tumor types. Like the classic renal and extrarenal malignant rhabdoid tumor (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, CERTs typically show aggressive clinical behavior. Deletions and mutations of the INII gene on 22q11.2 have been identified in most classic MRTs and AT/RTs; however, it is not known whether the rhabdoid components in CERTs have similar genetic abnormalities. Using fluorescence in situ hybridization (FISH) on archival, paraffin-embedded tissue with a commercially available probe in close proximity to the INII locus (bcr), as well as other chromosome 22 probes, we studied 4 cases of MRT, 13 of AT/RT, and 16 of CERT (3 melanoma, 4 meningioma, 7 carcinoma, 1 rhabdomyosarcoma, and 1 neuroblastoma). Deletion of the 22q11.2 locus was demonstrated in 10 (77%) of 13 AT/RTs and 3 (75%) of 4 MRT, including 1 congenital MRT. Of the 16 CERTs, only 2 (a rhabdoid meningioma and a carcinoma with rhabdoid features; 13%) harbored a deletion at this locus. This difference was statistically significant (P
ISSN:0046-8177
1532-8392
DOI:10.1053/hupa.2001.28252