1/19. Synovial sarcoma of the upper digestive tract: a report of two cases with demonstration of the X;18 translocation by fluorescence in situ hybridization.Two cases of synovial sarcoma that arose in the upper digestive tract are reported. One case was a polypoid mass that arose at the gastroesophageal junction; the other was a large intramural mass that arose in the wall of the stomach. Both cases had a classic biphasic pattern. In the stomach tumor, the biphasic morphology was focal and there was an abrupt transition to poorly differentiated synovial sarcoma. The tumors had immunohistochemical features that were consistent with synovial sarcoma. Ultrastructural evaluation of the gastroesophageal tumor supported the diagnosis. The diagnostic X;18 translocation was demonstrated by fluorescence in situ hybridization on sections from paraffin-embedded tissue in 86% and 50% of interphase nuclei from the gastroesophageal and gastric tumor, respectively. The translocation was present in equal frequency in the epithelial and spindle cells in the biphasic areas and the poorly differentiated areas of the gastric tumor, indicating that the development of the more aggressive subclone was probably due to genetic mutations not encompassing the SYT-SSX gene fusion product. We are aware of only five reported cases of synovial sarcoma arising in the digestive tract, all in the proximal esophagus. These cases are the first reported arising in the gastroesophageal junction and stomach and the only cases of synovial sarcoma of the digestive tract in which the diagnostic translocation was demonstrated. Sarcomatoid carcinoma (carcinosarcoma) and gastrointestinal stromal tumor are the main differential diagnoses for synovial sarcoma in this site. Synovial sarcoma of the digestive tract may be underdiagnosed, and its recognition may have important clinical implications. fluorescence in situ hybridization is helpful in making this distinction.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/19. Calcifying/ossifying synovial sarcoma shows t(X;18) with SSX2 involvement and mitochondrial calcifications.AIMS: Synovial sarcoma with extensive calcification and ossification is a rare variant, the ultrastructural, cytogenetic and molecular analysis of which has not been reported previously. methods AND RESULTS: A large mass in the shoulder of a 20-year-old male patient led to a deformity of the chest wall, thus supporting the hypothesis that this is a slowly growing variant of synovial sarcoma. Nevertheless, the patient developed metastatic lung disease 7 months after resection. On histology, the monophasic spindle cell proliferation was in several areas obscured by the massive calcification and ossification. immunohistochemistry showed keratin, epithelial membrane antigen, vimentin and CD99 expression. The cytogenetic analysis revealed a single t(X;18)(p11.2; q11.2), typical for synovial sarcoma. Additional fluorescence in-situ hybridization revealed SSX2 involvement. At the ultrastructural level, prominent needle-shaped intramitochondrial crystals were present, both in the cytoplasm and in the extracellular matrix. CONCLUSION: The presence of the t(X;18) with SSX2 involvement definitively characterizes this tumour as a variant of synovial sarcoma. In addition, the needle-like mitochondrial calcifications give a possible clue to the pathogenesis of the extensive metaplastic ossification and calcification.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
3/19. PNET-like features of synovial sarcoma of the lung: a pitfall in the cytologic diagnosis of soft-tissue tumors.Fine-needle aspiration (FNA) cytology of soft-tissue tumors is evolving. As more experience is gained, we are becoming aware of potential pitfalls. We describe 2 cases of synovial sarcoma of the lung, primary and metastatic, in patients who had FNA biopsy performed on a lung mass. The cytologic smears showed extremely cellular groups of malignant small round cells, intersected by small blood vessels, with numerous loose single cells, in a background of macrophages and mature lymphocytes. The tumors displayed monomorphic cells forming rosettes and displaying occasional mitoses. A diagnosis of neuroendocrine tumor/primitive neuroepithelial tumor (PNET) was suspected. Furthermore, this suspicion was supported by immunohistochemical stains, which showed positivity for a neuroendocrine marker, Leu 7 (case 1), and for a neural marker, CD 99 (O 13 or HBA 71) (both cases); and negativity for cytokeratins (case 1). The resection specimen of case 1 had mostly tightly packed small round cells, with occasional rosettes, similar to the FNA biopsy, and focal areas composed of spindle cells, organized in a focal fibrosarcoma-like and hemangiopericytoma-like pattern. A balanced translocation between chromosomes X and 18, demonstrated by both karyotyping and fluorescent in situ hybridization (FISH), enabled us to make a diagnosis of synovial sarcoma, which was histologically classified as poorly differentiated. Case 2 was a metastatic biphasic synovial sarcoma of the arm, with a prominent epithelial component. Synovial sarcoma, when composed mainly of small round cells on cytologic smears, is a great mimicker of neuroendocrine/PNET tumors, with light microscopic and immunohistochemical overlap. awareness of this potential pitfall may aid in preventing a misdiagnosis. Its recognition is of major concern, especially for the poorly differentiated variant, because it is associated with a worse prognosis.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
4/19. Synovial sarcoma of the pleura: a clinical and pathologic study of three cases.Synovial sarcomas are rare soft tissue malignancies that most commonly affect the extremities in the vicinity of large joints. These malignancies typically occur in adolescents and young adults between the ages of 15 and 40 years.(1,2) Historically they are believed to originate from primitive pluripotent mesenchyme capable of synovial differentiation. This belief is consistent with the malignancy's origin from sites devoid of normal synovium, such as the pleural cavity. A variety of pleural cavity sarcomas have been described, including liposarcoma,(3) chondrosarcoma,(4) osteosarcoma,(5) and malignant schwannoma.(6) Pleural synovial sarcoma, however, is a much rarer entity. In fact, pleural synovial sarcoma was first described only 6 years ago(7) and has not yet been reported in the surgical literature. Because of its rarity, pleural synovial sarcoma is often mistaken for the histologically similar malignant mesothelioma, the most common of the pleural neoplasms. This is a critical distinction, because synovial sarcoma may be extremely aggressive. Studies in the last 10 years have shown it to be extremely sensitive to ifosfamide-based chemotherapy, and survival of patients with synovial sarcoma has recently increased with chemotherapy, with 5-year survivals now as high as 57%.(8-10) In this report, we describe 3 cases of synovial sarcoma of the pleura. Clinical findings are correlated with pathologic features, including immunohistochemical stains and fluorescence in situ hybridization (FISH) for the identification of the diagnostic chromosomal translocation, t(X;18)(p11.2;q11.2). This delineation of the clinical and pathologic aspects of this rare, newly recognized tumor should increase awareness among the surgical community.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
5/19. Synovial sarcoma with a secondary chromosome change der(22)t(17;22)(q12;q12).A consistent, pathognomonic translocation, most commonly a balanced reciprocal translocation, t(X;18) (p11.2;q11.2), is found in more than 90% of synovial sarcomas. We report here a secondary chromosome change, der(22)t(17;22)(q12;q12), in addition to the primary t(X;18)(p11.2;q11.2) in a biphasic synovial sarcoma that occurred in the thigh of a 34-year-old woman. Although the karyotype of the primary tumor exhibited 46,X,t(X;18)(p11.2;q11.2), the recurrent tumor showed 46,X,der(X)t(X;18)(p11.2;q11.2),der(22) t(17;22)(q12;q12). The SYT-SSX1 fusion transcript was demonstrated in the primary and recurrent tumors using a reverse transcriptase polymerase chain reaction (RT-PCR). Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. However, we could not detect the EWS-E1AF fusion gene that has been reported to be generated through a t(17;22)(q12;q12) by RT-PCR. Furthermore, fluorescence in situ hybridization (FISH) with cosmid probes corresponding to loci flanking the EWSR1 region demonstrated no split of chromosome 22 in all analyzed interphase nuclei. To our knowledge, this is the first reported case of synovial sarcoma in which an additional (secondary) chromosome change, der(22)t(17;22)(q12;q12), has been demonstrated.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
6/19. Primary pleural synovial sarcoma. A case report and review of the literature.Synovial sarcoma (SS) is an uncommon soft tissue tumor that occurs primarily in the extremities of young adults, especially in the periarticular region. In this report, we describe the rare occurrence of primary SS of the pleura in a 15-year-old boy. Histologically, the tumor demonstrated monophasic morphologic findings and showed positive staining with vimentin and Bcl-2 and focally for cytokeratin CK7. Fluorescent in situ hybridization identified t(X;18) translocation. The patient developed recurrences 20 months following resection of the tumor. The literature on this uncommon entity is reviewed, and its histogenesis, differential diagnoses, and cytologic features are also discussed.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
7/19. A novel fusion gene, SS18L1/SSX1, in synovial sarcoma.Synovial sarcoma is an aggressive soft tissue tumor that is characterized cytogenetically by the t(X;18)(p11;q11) translocation, resulting in fusion between the SS18 gene on chromosome 18 and one of the SSX genes on the x chromosome. The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. Because SS18/SSX fusions do not seem to occur in other tumor types, and because synovial sarcomas may sometimes be difficult to distinguish from other spindle cell tumors, molecular genetic analysis has become established as an important diagnostic tool. Upon cytogenetic analysis of a soft-tissue tumor that showed classic synovial sarcoma morphology, we detected two supernumerary marker chromosomes but no rearrangement of chromosomes X or 18. By fluorescence in situ hybridization, the marker chromosomes were shown to contain material from chromosomes X and 20, including the SSX gene cluster on the x chromosome and the SS18L1 gene, which shows strong homology with the SS18 gene, on chromosome 20. Further RT-PCR analysis and sequencing of the amplified products revealed a novel SS18L1/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1. Thus, the existence of genetic heterogeneity has to be taken into account when RT-PCR is used for the diagnosis of synovial sarcoma.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
8/19. Primary renal synovial sarcoma with inferior vena cava and right atrium invasion.Primary renal synovial sarcoma is an uncommon and perhaps under-diagnosed disease. We report a case of renal tumor in a 19-year-old man. Clinically, the tumor mimicked renal cell carcinoma with renal vein, inferior vena cava and right atrium invasion. Histologically, the tumor consisted of monophasic, high-grade, spindle cell components. The diagnosis was validated by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction, which demonstrated SYT-SSX translocation: a characteristic cytogenetic finding for synovial sarcoma. Our case shows that synovial sarcoma should be considered in the differential diagnosis of renal tumors, especially in adolescents and young adults. Proper molecular analysis should be undertaken to attain a definitive diagnosis.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
9/19. Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the larynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8.Approximately 10% of all mesenchymal malignancies are classified as synovial sarcomas, which show a balanced translocation t(X;18)(p11.2;q11.2) at the cytogenetic level. The occurrence of this neoplasm in the head and neck region is rare, and its lowest frequency is found in the larynx. When synovial sarcomas are present in such unusual locations, diagnosis based solely on histologic features might be problematic, and to our knowledge, cytogenetic data have been reported so far in only one case of synovial sarcoma of the larynx. Because of the rarity and shortage of consistent prognostic markers, there is no clear consensus for the treatment of these patients. cytogenetic analysis of a primary case of synovial sarcoma of the larynx was performed by using a 48-color fluorescence in situ hybridization technique that allows differential staining of short and long chromosome arms to establish the karyotype. We report here the molecular cytogenetic analyses of a synovial sarcoma of the larynx harboring the diagnostic t(X;18), as well as trisomies 2 and 8. The karyotypic information on synovial sarcomas of the larynx is scarce, and our data might add to the diagnosis and prognosis of this tumor.- - - - - - - - - - ranking = 0.83333333333333keywords = hybridization (Clic here for more details about this article) |
10/19. Cytokeratin-positive meningeal peripheral PNET/Ewing's sarcoma of the cervical spinal cord: diagnostic value of genetic analysis.Peripheral primitive neuroectodermal tumor (PNET)/Ewing's sarcoma (ES) of the central nervous system is extremely rare and should be differentiated from central PNET and other small blue round cell tumors. We describe a case of a meningeal peripheral PNET/ES of the spinal cord in an 11-year-old boy. Immunohistochemically, the small blue round cell tumor showed expression of epithelial markers and of CD99, thus posing an important differential diagnostic problem with a poorly differentiated synovial sarcoma. fluorescence in situ hybridization revealed rearrangement of the EWS gene, as seen in peripheral PNET/ES. Peripheral PNET/ES does occur in the central nervous system, but its diagnosis can be extremely difficult on morphologic and immunohistochemical grounds alone. Genetic analysis plays a key role in its distinction from other small blue round cell tumors.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
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