Disease relevance of Sarcoma, Synovial

• These loci are near the translocation breakpoint seen in the t(X;18) (p11.2;q11.2), which is characteristic of synovial sarcoma, and the chromosome 14q32 breakpoints seen in ataxia telangiectasia and other T cell malignancies [1].
• Recent developments in this field include the identification of novel genes involved in the t(X;18) synovial sarcoma translocation and the discovery that the high-mobility group protein gene, HMGI-C, is involved in the chromosome 12 rearrangements found in lipomas and uterine leiomyomas [2].
• As predicted by expression profiling, epidermal growth factor receptor (a potential therapeutic target) and SALL2 stained most cases of synovial sarcoma; staining was significantly less common among other tested sarcomas [3].
• No expression of FAS was seen in the synovial sarcomas, leiomyosarcomas, or rhabdomyosarcomas that were examined [4].
• NF1 deletions, often in the form of monosomy 17, were found in MPNSTs (76%). neurofibromas (31%), hemangiopericytomas (17%), and fibrosarcomas (17%), but not in synovial sarcomas or cellular schwannomas [5].

High impact information on Sarcoma, Synovial

• SYT sequences constitute the N-terminal segment of a fusion oncogene product, SYT-SSX, routinely detected in synovial sarcoma, an aggressive human tumor [6].
• SYT-SSX fusion transcripts are a defining diagnostic marker of synovial sarcomas and may also yield important independent prognostic information [7].
• SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma [7].
• Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma [8].
• Re: A novel fusion gene, SYT-SSX4, in synovial sarcoma [9].

Chemical compound and disease context of Sarcoma, Synovial

• Synovial sarcomas were responsive to ifosfamide plus doxorubicin, especially among patients younger than 40 years of age [10].
• Our results indicate that this molecular assay can be applied to archival formalin-fixed, paraffin-embedded tumor tissues as a feasible and reliable molecular technique for the diagnosis of synovial sarcoma [11].
• For alkaline phosphatase and adenosine triphosphatase particularly, positive cells and negative cells coexisted, as in the large plump cells of synovial sarcoma [12].
• Analysis of two contigs, C1- and C4, using FISH established that in four of six synovial sarcomas examined the breakpoint occurs between these two contigs: C1 lies distal to the break-point while C4 is proximal [13].
• We also found a loss of imprinting (LOI) for Igf2 in a limited number of primary synovial sarcomas despite demethylation of CpG dinucleotides critical for maintaining imprinting [14].
• Ifosfamide-based chemotherapy was associated with an improved DSS in adult patients with high-risk, primary, extremity, synovial sarcoma and should be considered in the treatment of such patients [15].

Biological context of Sarcoma, Synovial

• Sera from these two patients were used to immunoscreen cDNA libraries from two synovial sarcoma cell lines and normal testis, resulting in the identification of 113 distinct antigens [16].
• Expression of insulin-like growth factor-1 receptor in synovial sarcoma: association with an aggressive phenotype [17].
• The SYT-SSX1 variant of synovial sarcoma is associated with a high rate of tumor cell proliferation and poor clinical outcome [18].
• The SYT-SSX fusion gene has been implicated in the malignant tumor cell growth of synovial sarcoma, but the underlying molecular mechanisms are still poorly understood [19].
• Interphase fluorescence in situ hybridization and reverse transcription polymerase chain reaction as a diagnostic aid for synovial sarcoma [20].

Anatomical context of Sarcoma, Synovial

• Usefulness of cytokeratin subsets for distinguishing monophasic synovial sarcoma from malignant peripheral nerve sheath tumor [21].
• Positivity for D2-40 and podoplanin was also seen in the epithelioid components of 4 of 5 biphasic mesotheliomas and 4 of 6 synovial sarcomas, whereas the spindle cell components of these tumors were negative as were the monophasic synovial sarcomas [22].
• Primary monophasic synovial sarcoma of the pleura: five cases confirmed by the presence of SYT-SSX fusion transcript [23].
• Positive tumors included malignant fibrous histiocytoma (6/6), benign and malignant smooth muscle tumors (5/6 leiomyoma, 8/9 leiomyosarcoma), liposarcoma (4/4), synovial sarcoma (6/7), angiosarcoma (2/2), and sarcoma NOS (2/2) [24].
• Case 2 exhibited a biphasic synovial sarcoma of the mediastinum containing an SYT-SSX2 fusion transcript, which is a rare fusion type in biphasic synovial sarcomas of the limbs [25].

Gene context of Sarcoma, Synovial

• A novel fusion gene, SYT-SSX4, in synovial sarcoma [26].
• Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma [27].
• The SSX1 and SSX2 genes were initially identified as fusion partners of the SYT gene in t(X;18)-positive synovial sarcomas [28].
• The proto-oncoprotein SYT is involved in the unique translocation t(X;18) found in synovial sarcoma SYT-SSX fusions [29].
• Immunohistochemical analysis of protein expression in tissue microarrays of 37 synovial sarcomas demonstrated strong expression of ERBB2 and IGFBP2 in the glandular epithelial component of biphasic tumors and in solid epithelioid areas of some monophasic tumors [30].

Analytical, diagnostic and therapeutic context of Sarcoma, Synovial

• Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients [31].
• Expression profiling of synovial sarcoma by cDNA microarrays: association of ERBB2, IGFBP2, and ELF3 with epithelial differentiation [30].
• Using Western blotting analysis on 74 fresh, fusion variant-typed, tumour samples from localized synovial sarcoma, we found a significant correlation between SYT-SSX1 and high expression of cyclin A (P=0.003) and D1 (P=0.025) [32].
• In the present study, RT-PCR analysis showed that all 64 examined synovial sarcomas from 54 patients had SYT-SSX chimeric genes [33].
• High-grade synovial sarcoma assessed by a histologic grading system based on the proliferative activity of the neoplastic cells can be viewed as high risk with the patients most likely to die of disease within 10 years after surgery and in need of improved chemotherapy [34].

References