Linked Life Data

10555010

Source:http://linkedlifedata.com/resource/pubmed/id/10555010

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1999-12-8
pubmed:abstractText
Desmoplastic small cell tumor (DSCT) is a high-grade malignant neoplasm that shows polyphenotypic differentiation. Its almost exclusive involvement of serosal surfaces (particularly peritoneum) has led to the consideration of a putative "mesothelioblast" as the cell of origin. Although an extraserosal case involving the brain (presumably arising from the dura) has been reported, to date no case primary in the bone or soft tissues has been documented. The authors describe a 34-year-old man who presented with a 3-year history of pain in the right hand and a recently noted mass in the hypothenar area. Open biopsy followed by wide en bloc excision in combination with index ray resection was performed. Subsequently, the patient underwent ipsilateral axillary lymph node dissection. Extensive radiologic workup at the time of presentation and 12 months later revealed no tumor in the chest or abdomen. The patient was treated with an HD-CAV chemotherapy regimen (cyclophosphamide, doxorubicin, vincristine, ifosfamide, etoposide) and was free of tumor until 18 months later, at which time he developed multiple metastases in the lungs. Currently, he is alive with tumor and in poor condition. The histologic sections of the mass displayed the characteristic features of DSCT involving bone and soft tissue. Immunohistochemical stains showed positivity of the tumor cells for muscle marker (desmin), neuroendocrine markers (chromogranin, synaptophysin), and epithelial markers (keratins CAM5.2, AE1:AE3, epithelial membrane antigen). Chimeric transcripts were detected by reverse transcriptase-polymerase chain reaction, indicating the presence of EWS-WT1 gene fusion, which is characteristically associated with DSCT. Sequence analysis showed in-frame fusion of EWS exon 9 to WT1 exon 8--a variant not documented in any other case. This is a unique example of DSCT primary in bone and soft tissues, which raises interesting questions about the histogenesis of this tumor type and its relationship to other small round cell tumors. Although the "mesothelioblast" hypothesis as the origin of DSCTs is attractive, it does not account for the tumors that are located in the brain or, as in this patient, in the soft tissues and bone. In addition, this patient demonstrates a rare variant of EWS-WT1 gene fusion not described in DSCT involving serosal surfaces.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0147-5185
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1408-13
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Primary desmoplastic small cell tumor of soft tissues and bone of the hand.
pubmed:affiliation
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
pubmed:publicationType
Journal Article, Case Reports