Journal of Clinical Oncology, Vol 16, 3028-3036, Copyright © 1998 by American Society of Clinical Oncology
Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants
WL Gerald, M Ladanyi, E de Alava, M Cuatrecasas, BH Kushner, MP LaQuaglia and J Rosai
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. geraldw@mskcc.org
PURPOSE: Intense investigation has reshaped concepts about undifferentiated
tumors occurring in young people (small round-cell tumors). Tumors
associated with t(11;22)(p13;q12) and descriptively designated desmoplastic
small round-cell tumor (DSRCT) are a distinctive, rare, poorly understood
member of this family. We reviewed 109 cases of DSRCT to further
characterize this entity better. METHODS: Clinical information and
histology were reviewed. Immunohistochemistry and immunoblotting were
performed using standard techniques. Chimeric EWS-WT1 RNA and DNA were
detected by polymerase chain reaction (PCR) and genomic translocation
breakpoints mapped in a subset of cases. RESULTS: There were 90 males and
19 females from 6 to 49 years of age (mean, 22 years). A total of 103 had
tumor in the abdominal cavity, four in the thoracic region, one in the
posterior cranial fossa, and one in the hand. Typical histologic and
immunohistochemical features were usually evident in well-sampled tumors,
but variations in cellularity, stromal components, cytology, architecture,
and immunoreactivity occurred. Tumor cells were usually reactive with
antibodies to keratin (67 of 78 cases, 86%), epithelial membrane antigen
(50 of 54, 93%), vimentin (64 of 66, 97%), desmin (70 of 78, 90%),
neuron-specific enolase (60 of 74, 81%), and the EWS-WT1 chimeric protein
(25 of 27, 93%); typically nonreactive for muscle common actin (one of 58,
2%), myogenin (zero of eight, 0%), and chromogranin (one of 46, 2%); and
variably reactive for MIC2 (nine of 47, 20%) and p53 (five of 17 with >
20% tumor cells reactive). Functional EWS-WT1 gene fusion was evident in 25
of 26 cases with genomic breakpoints in WT1 intron 7, and EWS introns 7, 8,
and 9. Prognosis in general is poor, but tumors are responsive to
aggressive therapy. CONCLUSION: This large review identifies a greater
degree of clinical, pathologic, and molecular variation than originally
appreciated for tumors associated with t(11;22)(p13;q12). Translocation and
functional fusion of the EWS and WT1 genes appears to be a consistent
feature of this unique tumor.
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