Synovial sarcoma mimicking desmoplastic small round-cell tumor: Critical role for molecular diagnosis

Peter Cole, Marc Ladanyi, William L. Gerald, Nai Kong V. Cheung, Kim Kramer, Michael P. LaQuaglia, Brian H. Kushner

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Background. The identification of recently described nonrandom chromosomal defects specific for various small round-cell and spindle-cell sarcomas can eliminate diagnostic uncertainty arising from the clinical and histopathologic overlap of soft tissue neoplasms. Methods. A 26-year-old man presented with bulky abdominal-pelvic disease. Immunohistochemical and molecular studies on tumor were performed. Treatment was instituted using cycles of high-dose cyclophosphamide (4,200 mg/m2) with doxorubicin (75 mg/m2). Results. Clinical findings pointed to desmoplastic small round-cell tumor. The tumor was histologically undifferentiated and immunoreactive for vimentin but negative for other markers. Reverse transcriptase-polymerase chain reaction revealed the SYT/SSX2 fusion transcript of the synovial sarcoma t(X;18) chromosomal rearrangement. The high-dose chemotherapy, plus surgery, achieved a complete remission, but recurrent disease emerged 13 months from diagnosis. Conclusions. This clinically unique case of synovial sarcoma highlights how the use of now readily available molecular techniques will allow more accurate appraisals of the incidence and anatomic distribution of soft tissue neoplasms - information that bears upon pathogenesis and treatment. This case confirms the utility of high-dose alkylator-based therapy for synovial sarcoma. It also demonstrates that with nonlocalized solid tumors, the eradication of minimal residual disease remains an elusive goal. One alternative involves immunologic attack against markers derived from tumor-specific chromosomal defects such as those found in our patient.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalMedical and Pediatric Oncology
Volume32
Issue number2
DOIs
StatePublished - Feb 1 1999

Keywords

  • Chromosomal translocation
  • Desmoplastic small round-cell tumor
  • Peritoneal carcinomatosis
  • Reverse transcriptase-polymerase chain reaction
  • Synovial sarcoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Cancer Research

Fingerprint Dive into the research topics of 'Synovial sarcoma mimicking desmoplastic small round-cell tumor: Critical role for molecular diagnosis'. Together they form a unique fingerprint.

  • Cite this