TY - JOUR
T1 - Desmoplastic small cell tumor of soft tissue
T2 - Molecular variant of EWS-WT1 chimeric fusion
AU - Hamazaki, Minoru
AU - Okita, Hajime
AU - Hata, Jun Ichi
AU - Shimizu, Shin Ichi
AU - Kobayashi, Hiroshi
AU - Aoki, Katsuhiko
AU - Nara, Taemi
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2006/9
Y1 - 2006/9
N2 - A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.
AB - A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.
KW - Desmoplastic small cell tumor
KW - EWS-WT1 fusion transcript
KW - Extra-abdominal
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U2 - 10.1111/j.1440-1827.2006.02003.x
DO - 10.1111/j.1440-1827.2006.02003.x
M3 - Article
C2 - 16930335
AN - SCOPUS:33747519911
VL - 56
SP - 543
EP - 548
JO - Acta Pathologica Japonica
JF - Acta Pathologica Japonica
SN - 1320-5463
IS - 9
ER -