Sequence confirmation of the EWS-WT1 fusion gene transcript in the peritoneal effusion of a patient with desmoplastic small round cell tumor.
Diagn Cytopathol
; 29(6): 341-3, 2003 Dec.
Article
in En
| MEDLINE
| ID: mdl-14648792
ABSTRACT
Desmoplastic small round cell tumor (DSRCT) is a rare undifferentiated neoplasm. The prognosis is poor, even if therapy is instituted promptly, and thus it is important to differentiate it from other histologically and cytologically similar-looking malignancies of the young adult. We present a case of DSRCT in a 17-yr-old male with disseminated peritoneal disease and peritoneal effusion. The cytology sample showed a malignant small round cell tumor, the classical cytological features of DSRCT, and immunohistochemistry performed in the prepared cell block exhibited an antibody expression profile in keeping with DSRCT. Further material from the effusion was prepared for RNA extraction, following which a reverse-transcriptase polymerase chain reaction (RT-PCR) and sequencing of the t(11;22)(p13;q11 or q12) were carried out. The result showed the presence of the reciprocal translocation and thus confirmed the diagnosis of DSRCT. This case shows how molecular techniques (including sequencing) can be applied to cytology in clarifying and confirming certain difficult diagnosis of undifferentiated neoplasms, DSRCT in this particular case.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Soft Tissue Neoplasms
/
Transcription Factors
/
Ascitic Fluid
/
Oncogene Proteins, Fusion
/
Sequence Analysis, RNA
/
Carcinoma, Small Cell
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Diagn Cytopathol
Journal subject:
PATOLOGIA
Year:
2003
Document type:
Article
Affiliation country: