Abstract
Differential diagnosis of monophasic synovial sarcoma requires the detection of specific biological markers. In this study we evaluated the presence of molecular alterations in 15 monophasic synovial sarcomas. Multiple changes affecting chromosome arms were detected by CGH-array in all microdissected cases available, and an association between gain or loss of specific regions harbouring cancer progression-associated genes and aneuploid status was found. The most frequent alteration was loss of 3p including 3p21.3-p23 region that, however, did not involve the promoter regions of the corresponding genes, RASSF1 and MLH1. Using Real-Time PCR, mRNA levels of both resulted moderately high compared to normal tissue; however, the weak to absent protein expression suggests RASSF1 and MLH1 post-transcription deregulation. Moreover, immunohistochemical analysis revealed that both mesenchymal and epithelial antigens were present in diploid tumours. These findings confirm the genetic complexity of monophasic synovial sarcoma and underline the need to integrate different analyses for a better knowledge of this tumour, essential to investigate new diagnostic and prognostic markers.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adult
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Aged
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Biomarkers, Tumor
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Carrier Proteins / analysis
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Carrier Proteins / genetics*
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Carrier Proteins / physiology
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Chromosome Deletion*
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Chromosomes, Human, Pair 3 / genetics*
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DNA, Neoplasm / analysis
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DNA, Neoplasm / genetics
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Down-Regulation
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Female
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Gene Expression Regulation, Neoplastic
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Humans
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Immunohistochemistry
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Keratins / analysis
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Keratins / genetics
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Male
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Microsatellite Repeats
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Middle Aged
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Mucin-1 / analysis
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Mucin-1 / genetics
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MutL Protein Homolog 1
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Neoplasms, Connective Tissue / chemistry
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Neoplasms, Connective Tissue / genetics*
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Neoplasms, Connective Tissue / pathology
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Neoplasms, Connective Tissue / physiopathology
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Nuclear Proteins / analysis
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Nuclear Proteins / genetics*
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Nuclear Proteins / physiology
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Oligonucleotide Array Sequence Analysis
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Prognosis
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RNA, Messenger / analysis
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Sarcoma, Synovial / chemistry
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Sarcoma, Synovial / genetics*
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Sarcoma, Synovial / pathology
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Sarcoma, Synovial / physiopathology
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Transcription, Genetic*
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Tumor Suppressor Proteins / analysis
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Tumor Suppressor Proteins / genetics*
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Tumor Suppressor Proteins / physiology
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Vimentin / analysis
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Vimentin / genetics
Substances
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Adaptor Proteins, Signal Transducing
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Biomarkers, Tumor
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Carrier Proteins
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DNA, Neoplasm
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MLH1 protein, human
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Mucin-1
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Nuclear Proteins
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RASSF1 protein, human
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RNA, Messenger
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Tumor Suppressor Proteins
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Vimentin
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Keratins
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MutL Protein Homolog 1