Desmoplastic small round cell tumour of unknown primary origin with lymph node and lung metastases: Histological, cytological, ultrastructural, cytogenetic and molecular findings Journal Article


Authors: Backer, A.; Mount, S. L.; Zarka, M. A.; Trask, C. E.; Allen, E. F.; Gerald, W. L.; Sanders, D. A.; Weaver, D. L.
Article Title: Desmoplastic small round cell tumour of unknown primary origin with lymph node and lung metastases: Histological, cytological, ultrastructural, cytogenetic and molecular findings
Abstract: Desmoplastic small round cell tumour (DSRCT) is an extremely aggressive neoplasm belonging to the family of 'small round blue cell tumours', which includes primitive neuroectodermal tumour (PNET), Wilms' tumour and Ewing's sarcoma. DSRCT is considered to be a neoplasm derived from a primitive cell. It is immunohistochemically reactive with epithelial, neuronal and mesenchymal cell markers, demonstrating divergent differentiation along three cell lines. Originally thought to arise from serosal surfaces, the tumour has recently been reported in the central nervous system and ovary. The tumour in this case is a neoplasm that meets the histological, immunohistochemical, cytological and cytogenetic criteria of DSRCT; it is not associated with serosal membranes, and it has supraclavicular and axillary lymph node deposits and multiple pulmonary and brain metastases. Tumour cells from our case show cytogenetic similarities with Ewing's sarcoma and PNET. Electron microscopic findings suggest similarities between DSRCT and Wilms' tumour. Cloning and sequencing of PCR products showed in-frame fusion of EWS exon 7 to WT1 exon 8.
Keywords: immunohistochemistry; adult; human tissue; exon; case report; lymphatic metastasis; polymerase chain reaction; electron microscopy; reverse transcription polymerase chain reaction; computer assisted tomography; diagnosis, differential; lung neoplasms; tumor markers, biological; cytogenetics; tumor biopsy; cell differentiation; central nervous system tumor; ewing sarcoma; axillary lymph node; molecular cloning; lung metastasis; ovary tumor; tumor cell; brain metastasis; epithelium cell; cell marker; sarcoma, ewing's; karyotype; karyotyping; nerve cell; neuroectoderm tumor; cilia; lymphadenopathy; mesenchyme; serosa; wt1; nephroblastoma; desmoplastic small round cell tumor; neoplasms, unknown primary; neuroectodermal tumors, primitive, peripheral; dsrct; humans; human; male; priority journal; article; ews; desmoplastic round cell tumour
Journal Title: Virchows Archiv
Volume: 432
Issue: 2
ISSN: 0945-6317
Publisher: Springer  
Date Published: 1998-02-01
Start Page: 135
End Page: 141
Language: English
DOI: 10.1007/s004280050147
PUBMED: 9504858
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
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  1. William L Gerald
    374 Gerald