Disseminated intrathoracic desmoplastic small round-cell tumor: a case report.
OBJECTIVE
Recently recognized as a distinct clinicopathologic entity, desmoplastic small round-cell tumors typically affect young men. These aggressive tumors usually arise in the abdomen; other sites of primary disease have been described only rarely. We report the case of an extraabdominal primary tumor with widespread dissemination, including the subcutaneous tissue, a previously unrecognized metastatic site.


METHODS
We describe the case of a 16-year-old boy with a primary extraabdominal metastatic desmoplastic small round-cell tumor.


RESULTS
Our patient had a primary intrathoracic desmoplastic small round-cell tumor and widespread dissemination involving the subcutaneous tissue, kidney, liver, bone, and lymph nodes. Histopathologic analysis found intense desmoplasia and polyphenotypic expression of neural, muscle, and epithelial markers. Reverse transcriptase-polymerase chain reaction analysis of fresh tumor tissue confirmed the characteristic EWS-WT1 transcript.


CONCLUSIONS
Broader than originally anticipated, the clinical spectrum of desmoplastic small round-cell tumors continues to evolve. Primary intrathoracic tumors with soft-tissue dissemination and polyphenotypic expression should prompt suspicion of this malignancy. Molecular analysis of fresh tumor tissue is an important adjunct to diagnosing this rare neoplasm.
Venkateswaran
L
L
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105-2794, USA.
Jenkins
J J
JJ
Kaste
S C
SC
Shurtleff
S A
SA
Downing
J R
JR
Pappo
A S
AS
D000293:Adolescent; D017809:Fatal Outcome; D016162:Genes, Wilms Tumor; D006801:Humans; D008297:Male; D012512:Sarcoma, Ewing / Q000235:genetics / Q000473:pathology; D018228:Sarcoma, Small Cell / Q000235:genetics / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000235:genetics / Q000473:pathology*