Translocation: t(X;18)(p11.2;q11.2) can be diagnostic in poorly differentiated lesions (t(X;18) not specific for synovial sarcoma) Fusion of SYT gene on … 4. Synovial sarcoma is a high grade (aggressive) tumor and metastasizes (spreads) to distant sites from the primary tumor in up to 50% of cases. Am J Clin Pathol 1996;105:195-9. It has become increasingly apparent that synovial sarcoma (SS), a malignancy most commonly found in the soft tissues of the extremities, may arise at a wide variety of other sites, including the head and neck, 1-4 mediastinum, 5 heart, 6 esophagus, 7 and vulva. Synovial sarcoma: ultrastructural and immunohistochemical features of epithelial differentiation in monophasic and biphasic tumors. Translocation X;18 in synovial sarcoma Synovial Sarcoma Synovial Sarcoma (Orbit Synovial sarcoma ns. The tumor is mostly observed as a nodule in the lung periphery. Primary pulmonary sarcoma with morfhologic fea-tures of monophasic synovial sarcoma and chromosome translocation t(X;18). Synovial sarcoma is a well-recognized soft tissue malignancy that typically arises in young adults. Although this tumor generally affects adults, about 30% of reported cases occur in children and adolescents. However, the lung is the most frequently involved ‘organ’ by synovial sarcoma. Adjuvant radiation considered for high risk patients. The histopathology was reported as intermediate grade synovial sarcoma with SYT-SSX1 translocation in immunohistopathology. SS18 (synovial sarcoma translocation, chromosome 18) Department of Molecular Genetics, Graduate School of Medicine, Dentistry, Pharmaceutical Sciences, Okayama University. Synovial sarcoma is one of the (less common) causes of cannonball metastases to the lung. This reciprocal translo- cation has been observed in synovial sarcomas of the extremities, as well as :in those arising in less common locations [2]. Although SYT-SSX fusion proteins appear to trigger synovial sarcoma development, little is known about the downstream targets of SYT-SSX. Synovial sarcoma is characterized by a specific chromosomal translocation, t(X;18)(p11;q11). Synovial sarcoma (SS) is a rare sarcoma driven by a translocation between SS18 and SSX 1, 2, or 4. Gross Findings: The diameter of SSs varies from 3 to 10 centimetres (cm).Tumors tend to be multinodular and can be cystic. 8. This defect appears to be the underlying cause of the tumor. In this study, a primary synovial sarcoma of the lung exhibiting the X;18 translocation is presented. Synovial Sarcoma - Thoracic Key Synovial sarcoma (SS) is a rare sarcoma driven by a translocation between SS18 and SSX 1, 2, or 4. One fibrous type, known as a spindle or sarcomatous cell, is relatively small and uniform, and found in sheets. Synovial sarcoma is the fourth or fifth most common subtype of soft tissue sarcoma and is distinguished by its younger age of presentation, frequent history of pain, and diagnostic chromosomal translocation. The histopathology in synovial sarcoma may be biphasic (consisting of … SYT gene translocation detected in a case of synovial sarcoma by fluorescence in situ hybridization (FISH), using a break-apart probe. With approximately 800 to 1,000 cases a year in the United States, it most commonly affects young adults between the ages of 15 and 30 years. Detection of the synovial sarcoma translocation t(X;18 ... Synovial sarcoma (SS), an aggressive type of soft tissue tumor, occurs mostly in adolescents and young adults. This translocation can be found in 90% of all synovial sarcomas and in addition, it is absent in other types of sarcoma. Cytogenetic analysis of a synovial sarcoma of the base of the tongue showed a reciprocal translocation involving chromosomes X and 18 (t(X;18)(p11.2;q11.2)). Of the trials that contain synovial sarcoma as an inclusion criterion, 14 are phase 1 (10 open), 6 are phase 1/phase 2 (6 open), 9 are phase 2 (7 open), and 2 are phase 3 (1 open). Over 90% of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of SS18-SSX1 or SS18-SSX2 fusion genes. Synovial Sarcoma Skytting B et al: 3030536: 1987: A consistent chromosome translocation in synovial sarcoma. Currently, histologic diagnosis of synovial sarcoma is corroborated by the presence of an SYT gene translocation. Kaplan MA, Goodman D, Satish J, Bhagavan BS, Travis WD. The genetic translocation is very t(X;18) specific for synovial sarcoma. 4-5 µm thick paraffin sections were mounted Terry et al., 2005). Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. Two categories of synovial sarcoma defined by divergent chromosome translocation breakpoints in Xp11.2, with implications for the histologic sub-classification of synovial sarcoma Cytogenet Cell Genet , 70 ( 1995 ) , pp. With approximately 800 to 1,000 cases a year in the United States, it most commonly affects young adults between the ages of 15 and 30 years. Synovial sarcoma is characterized cytogenetically by translocation t(X;18)(p11.2;q11.2). Intra-abdominal synovial sarcomas account for less than 1% of lesions. Figure 1 . Crossref, Medline, Google Scholar; 22 Birdsall S, Osin P, Lu YJ, et al. Synovial sarcomas have unique genomic characteristics and are driven by a pathognomonic t(X;18) chromosomal translocation and … Synovial sarcoma accounts for 8% to 10% of all sarcomas [1]. With approximately 800 to 1,000 cases a year in the United States, it most commonly affects young adults between the ages of 15 and 30 years. A specific translocation in this sarcoma induces fusion of the SYT gene on chromosome 18 to the SSX genes on chromosome X, leading to proliferation of the tumor cells. Synovial sarcoma is a high grade (aggressive) tumor and metastasizes (spreads) to distant sites from the primary tumor in up to 50% of cases. 1 Although relatively rare, SS is the third most com- Synovial sarcomas (SS) represent a unique subset of soft tissue sarcomas (STS) and account for 5–10% of all STS. Specific chromosomal translocations have come to define many types of sarcomas. … Over 90% of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of SS18-SSX1 or SS18-SSX2 fusion genes. LETTER TO THE EDITOR Translocation X;18 in Synovial Sarcoma As part of a cytogenetic survey of sarcomas, we recently described a translocation involving an X chromosome and chromosome # 1 8 in two poorly differentiated sar- comas [1] whose exact pathologic diagnosis could not be established with certainty. Synovial sarcoma has a fusion gene, SYT-SSX, which is the result of a chromosomal translocation unique for this tumor, t(x;18)(p11;q11), which is present in up to 90% of cases. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. Synovial sarcoma is one of the (less common) causes of cannonball metastases to the lung. Synovial sarcoma (SS) is a rare sarcoma driven by a translocation between SS18 and SSX 1, 2, or 4. It occurs mostly in adolescents and young adults (i.e., AYA), but there is no difference in patient numbers in terms of sex [ 76 ]. The 2 other tumors had complex translocations, which, however, always involved … Synovial sarcoma differs from other STS by the relatively young age at diagnosis and clinical presentation. The occurrence of synovial sarcoma in the hand-wrist area is rare (4 to 8.5% of all synovial sarcomas in different studies). Shipley JM et al: 10359553: 1999: A novel fusion gene, SYT-SSX4, in synovial sarcoma. The resultant tumors are either monophasic (pure sarcomas), biphasic (a combination or epithelioid and sarcomatous components), or … Synovial sarcoma is characterized by a specific translo- cation, t (X;18) (p11.2;q11.2) [9, 11]. Synovial sarcoma (SS) comprises approximately 8% of all soft tissue sarcomas (STSs), with the lower limbs being the most common site of primary disease. Despite its name, the lesion does … Synovial Sarcoma (SS) is the fourth most common soft tissue sarcoma, characterized by translocation t(X;18) (p11.2;q11.2). In the alveolar rhabdomyosarcoma category, 20% of the cases are negative for the PAX3-FKHR or PAX7-FKHR fusion resulting from the 2;13 or 1;13 chromosomal translocation. It bears the t(X;18) (SYT;SSX) translocation, which seems to be specific for this tumor type and can be detected in paraffin-embedded tissue, using reverse transcriptase-polymerase chain reaction (RT-PCR). Despite its name, SS does not appear to be of synovial origin, but rather from It is somewhat more common in males. KEY WORDS: synovial sarcoma, soft tissue sarcoma, prognostic factors, radiotherapy, chemotherapy. Virtually all synovial sarcomas contain a translocation involving chromosomes X and 18. A diagnosis of biphasic SS, grade three, was made. Synovial sarcomas of the thorax are rare, but most frequently occur in the mediastinum, followed by the pleura, lung parenchyma, pericardium, and … Email Fazel.Khan@stonybrookmedicine.edu. Synovial sarcomas with proven diagnostic translocation are being described with increasing frequency in unsuspected locations not related to joints, such as lung, pleura, heart, or pharynx. There are no well-established risk factors for synovial sarcoma. A series of 38 soft tissue sarcomas were analyzed. Recommended Reading 1. Tumors are divided histologically into monophasic, bi-phasic, and poorly differentiated categories. Histologically, the tumor demonstrated monophasic morphologic findings and showed positive staining with … Human synovial sarcomas contain a recurrent and specific chromosomal translocation t (X;18) (p11.2;q11.2). SYT gene translocation detected in a case of synovial sarcoma by fluorescence in situ hybridization (FISH), using a break-apart probe. Identification of synovial sarcoma, which is mainly based on a combination of traditional morphology, identification of chromosomal t(X;18) translocation and a panel of IHC markers , remains a challenge due to its histological overlap with other soft tissue tumor types. Summary Synovial sarcoma is a highly aggressive soft tissue malignancy that often affects adolescents and young adults. The origin and molecular mechanism of the development of SS remain only partially known. Synovial sarcoma is characterized by the t (X;18) (p11;q11) translocation which occurs in over 90% of cases regardless of histologic subtype. With approximately 800 to 1,000 cases a year in the United States, it … Causes. Associations. Recommended Reading 1. Spindle cell component 50-80% positive. Translocation associated sarcoma characterized by SS18-SSX1/2 fusion Monomorphic spindle cell sarcoma with or without areas of epithelial differentiation (monophasic or biphasic, respectively) Accounts for ≤ 10% of thoracic synovial sarcoma cases, with most arising in the lungs or pleura ( Mod Pathol 2007;20:760 ) Terminology It is associated with a unique chromosomal translocation that results in the formation and expression of the fusion gene SS18-SSX, which underlies its pathogenesis. Synovial sarcoma (SS) is the most frequent nonrhabdomyosarcomatous soft tissue sarcoma encountered in adolescents and young adults, and despite advances in the treatment of local disease, metastases remain the main cause of death. This translocation results in fusion of the SSXT gene from chromosome 18 with one of two highly homologous and closely neighboring genes on chromosome X for the monophasic and polyphasic tumor types. A recurrent, tumor-specific translocation t(X;18)(p11.2;q11.2) is observed in approximately 90% of synovial sarcomas. The t(X;18)(p11.2;q11.2) translocation found in synovial sarcomas results in a fusion between the SYT gene on chromosome 18 and an SSX gene on the X chromosome. Synovial sarcomas are relatively common intermediate-to-high grade malignant soft tissue tumors, often with an initial indolent course, ... Cytogenetic aberration of the t(X;18) translocation is highly specific, seen in over 90% of cases 1-4. This specific chromosomal translocation between chromosome X and chromosome 18 has been noted in more than 90% of cases. Synovial sarcoma specific translocation associated with both epithelial and spindle cell components. There appears to be a genetic component to the disease, which is associated with the chromosomal translocation t(X;18) (p11;q11). 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