Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0392680 (shortness of breath)
 5,217 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Synovial sarcoma (SS) is a rare malignancy that most commonly involves the extremities and large joints. We describe a 67-year-old woman who presented with shortness of breath and flu-like symptoms, and a chest wall mass. On resection of the mass biphasic morphology of SS was noted, as well as confirmatory immunostains including TLE1 and bcl2. An SS18/SSX2 fusion transcript was detected by reverse transcriptase-DNA amplification. A year later, following chemotherapy, the patient developed a right-sided pleural effusion. Cytological examination of the fluid showed an epithelial population forming clusters and groups. TLE1 was positive, as well as fluorescent in situ hybridization analysis for the SS18/SSX2 fusion transcript. SS can be a challenging diagnosis in fluid-filled cavities, when the epithelial component predominates and its original biphasic quality is not seen. We discuss the diagnostic challenges of monophasic and biphasic SS, and updates to ancillary testing.
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PMID:Biphasic chest wall synovial sarcoma with epithelial pleural effusion: a diagnostic challenge. 3107 50