title: SYT-SSX2 variant of primary pulmonary synovial sarcoma with focal expression of CD117 (c-Kit) protein and a poor clinical outcome.
abstract: Pulmonary synovial sarcoma is a rare neoplasm recently recognized as a distinct entity and characterized by t(X;18) translocation and production of at least 2 fusion genes, SYT-SSX1 and SYT-SSX2. We report a case of primary pulmonary synovial sarcoma with the SYT-SSX2 phenotype and a rapidly progressive downhill course. Previous reports have suggested that the soft tissue synovial sarcomas with SYT-SSX2 phenotype have a favorable clinical outcome. To the best of our knowledge, this is also the first report of CD117 (c-Kit) expression in a pulmonary synovial sarcoma. A 45-year-old woman presented with left chest pain and was found to have a left lower lobe tumor that was originally diagnosed as a sarcomatoid carcinoma. After the patient underwent chemotherapy and brachytherapy, the specimen from a left pneumonectomy showed a large spindle cell tumor, which was reclassified as a synovial sarcoma based on the results of immunophenotyping and molecular genetic studies. Differentiation between sarcoma and carcinosarcoma is crucial for implementing appropriate therapy. Furthermore, if the tumor expresses c-Kit, it may respond to target-based therapy.
authors.affiliation: Department of Pathology at the University of Texas Medical Branch at Galveston, 77555-0588, USA.
authors.forename: Nahal
authors.initials: N
authors.lastname: Boroumand
authors.forename: Vinay
authors.initials: V
authors.lastname: Raja
authors.forename: Dennie V
authors.initials: DV
authors.lastname: Jones
authors.forename: Abida K
authors.initials: AK
authors.lastname: Haque
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics / Q000378:metabolism / Q000556:secondary; D017809:Fatal Outcome; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010641:Phenotype; D019009:Proto-Oncogene Proteins c-kit / Q000096:biosynthesis*; D013584:Sarcoma, Synovial / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000556:secondary
chemical_list: D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion; C116512:SYT-SSX fusion protein; D019009:Proto-Oncogene Proteins c-kit