Novel SYT–SSX fusion transcript variants in synovial sarcoma
E. DimitriadisD. RontogianniAnastasios KyriazoglouAnna TakouKostantina FrangiaNikolaos PandisTheoni Trangas
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Synovial Sarcoma
Fusion transcript
Fusion transcript
Chimeric gene
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The initial cytogenetic analysis of a biphasic synovial sarcoma showed an apparently normal karyotype. After FISH using chromosome X- and 18-specific probes and RT-PCR using SYT- and SSX-specific primer sets, a cryptic synovial sarcoma-associated t(X;18)(p11;q11) could be revealed. The “masked” nature of the translocation may best be explained by a two-step scenario in which a genuine t(X;18)(p11;q11) has occurred as a first step and a reverse reciprocal X;18 translocation as a second step, leaving the synovial sarcoma-associated SYT–SSX1 fusion intact. The findings further underline our previous suggestion that SYT–SSX1 fusions may correlate with a biphasic nature of the tumor. In addition, our findings indicate that, in analogy to, e.g., the Philadelphia translocation in chronic myeloid leukemia, “masked” translocations may occur in soft tissue tumors and that, as a standard, RT-PCR and/or FISH analyses should be carried out in order to provide karyotypic information that may be relevant to tumor diagnosis and/or prognosis. Genes Chromosomes Cancer 23:198–201, 1998. © 1998 Wiley-Liss, Inc.
Synovial Sarcoma
Primer (cosmetics)
Fusion transcript
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The initial cytogenetic analysis of a biphasic synovial sarcoma showed an apparently normal karyotype. After FISH using chromosome X- and 18-specific probes and RT-PCR using SYT- and SSX-specific primer sets, a cryptic synovial sarcoma-associated t(X;18)(p11;q11) could be revealed. The "masked" nature of the translocation may best be explained by a two-step scenario in which a genuine t(X;18)(p11;q11) has occurred as a first step and a reverse reciprocal X;18 translocation as a second step, leaving the synovial sarcoma-associated SYT-SSX1 fusion intact. The findings further underline our previous suggestion that SYT-SSX1 fusions may correlate with a biphasic nature of the tumor. In addition, our findings indicate that, in analogy to, e.g., the Philadelphia translocation in chronic myeloid leukemia, "masked" translocations may occur in soft tissue tumors and that, as a standard, RT-PCR and/or FISH analyses should be carried out in order to provide karyotypic information that may be relevant to tumor diagnosis and/or prognosis.
Synovial Sarcoma
Primer (cosmetics)
Fusion transcript
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The t(8;21) abnormality occurs in a minority of acute myeloid leukemia (AML) patients. The translocation results in an in‐frame fusion of two genes, resulting in a fusion protein of one N‐terminal domain from the AML1 gene and four C‐terminal domains from the ETO gene. This protein has multiple effects on the regulation of the proliferation, the differentiation, and the viability of leukemic cells. The translocation can be detected as the only genetic abnormality or as part of more complex abnormalities. If t(8;21) is detected in a patient with bone marrow pathology, the diagnosis AML can be made based on this abnormality alone. t(8;21) is usually associated with a good prognosis. Whether the detection of the fusion gene can be used for evaluation of minimal residual disease and risk of leukemia relapse remains to be clarified. To conclude, detection of t(8;21) is essential for optimal handling of these patients as it has both diagnostic, prognostic, and therapeutic implications.
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Synovial Sarcoma
Chromosome 18
Chromosomal rearrangement
Fusion transcript
Monosomy
Gene rearrangement
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9016 Background Synovial sarcomas, which represent 5% to 10% of all sarcomas, are characterized by the X-18 chromosomal translocation. Two fusion genes are created by the translocation: X-SSX1 and X-SSX2. A large-scale multicenter study published in 2002 revealed that the SYT-SSX1 translocation was associated with a poorer prognosis (Ladanyi, Cancer Res 62, 135–140). However, the chemosensitivity according to this translocation is not known. Methods The prognostic value of the type of translocation X-SSX1 or X-SSX2 was investigated in a series of 38 patients with synovial sarcoma (28 localized and 10 initially metastatic), treated by surgery, chemotherapy and radiotherapy in 3 major cancer centers (IGR, Centre L. Bérard, Centre O. Lambret). Chemotherapy was evaluated for 14 patients (neoadjuvant treatment or treatment for metastatic disease) The type of transcript was determined on the initial biopsies of the tumor by RT-PCR. The median follow-up was 47 months (7–256) Results For patients with a non-metastatic tumor (28 patients), a recurrence-free survival benefit was demonstrated in the X-SSX2 group (23 versus 10 months p<0,05) . For the 10 patients with metastatic disease initially, the X-SSX2 translocation is associated with a better prognosis (overall survival : 31 versus 9 months p=0,01). The X-SSX2 group appeared to present a better chemosensitivity (objective response 4/7 versus 1/7 in the X-SSX1 group) p=0,09. Conclusion Synovial sarcomas are rare but it seems important to determine prognostic factors. The type of transcript is an element which could guide the prognosis and determine treatment, and, more importantly, can constitute a useful line of research. No significant financial relationships to disclose.
Synovial Sarcoma
Fusion transcript
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Synovial Sarcoma
Fusion transcript
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Fusion transcript
Acute myeloblastic leukemia
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Synovial sarcoma (SS) is a rare soft-tissue tumor that affects children and young adults. It is characterized by chromosomal translocation t(X;18)(p11.2;q11.2), which results in the fusion of the gene SYT on chromosome 18 with SSX genes on chromosome X. Heterogeneity within SS fusion junctions is rare. We report a case of a 9-year-old boy with a high-grade spindle cell sarcoma. Reverse transcriptase-polymerase chain reaction revealed a characteristic translocation of SSs. However, this sarcoma showed a longer-than-expected PCR product after gel electrophoresis. Direct sequencing of the product disclosed a novel SYT/SSX1 fusion transcript. Detection of fusion transcripts is useful for diagnostics of SS. In each case, when considering this diagnosis on the morphologic grounds an attempt to analyze the translocation using PCR should be made, including the recognition of its uncommon variants.
Synovial Sarcoma
Fusion transcript
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