Diagnosis Of Synovial Sarcoma Research Articles

Synovial sarcoma of the cauda equina

Primary synovial sarcoma originating from the cauda equina is extremely rare. Only one case, involving an 11-year-old girl, has been reported. The authors describe the case of a 23-year-old woman with a primary synovial sarcoma of the cauda equina. The patient visited a local hospital and described a 2-month history of low-back pain. She was referred to the authors' hospital for further evaluation. On physical examination, she had a straight-leg raising result of 70° bilaterally. Motor examination revealed Grade 4/5 strength in the bilateral extensor hallux longus muscles. There was normal sensation to light touch and vibration in the lower extremities. Sagittal Gd-enhanced T1-weighted MR imaging demonstrated an intradural, extramedullary, and uniformly enhancing mass that extended from L-3 to L-4. The mass was totally resected and adjuvant local radiation therapy was administered. Reverse transcriptase polymerase chain reaction (RT-PCR) of a paraffin-embedded tissue sample revealed SYT-SSX fusion transcripts, and the diagnosis of synovial sarcoma was confirmed. Five and a half years after surgery, the patient is free of local recurrence and metastatic disease. The RT-PCR detection of SYT-SSX fusion transcripts played a key role in establishing the diagnosis of synovial sarcoma of the cauda equina. Complete resection of the mass with adjuvant local radiation therapy proved to be effective.

Synovial sarcoma of the vulva: a case report

IntroductionContrary to its name, synovial sarcoma does not arise from the synovial membrane but from multipotent stem cells and can present in any part of the body. Very few cases of vulval synovial sarcoma have been reported in the literature; we report on such a presentation. These tumors can present as painless lumps, which must be completely excised to give the best prognosis. Therefore the diagnosis of synovial sarcoma should always be kept in mind in the management of vulval masses, especially in young patients.Case presentationWe report the case of a 28-year-old Caucasian woman with synovial sarcoma of the vulva. Complete excision was possible in this case.ConclusionWe have presented a rare case of synovial sarcoma of the vulva, which can be easily confused with lipoma of the vulva. The management of this tumor requires referral to a cancer centre, with a multidisciplinary approach.

Synovial Sarcoma of the Thyroid Gland

Primary synovial sarcoma of the thyroid is an extremely rare condition which has only been reported twice in the literature. We herein report a case of highly aggressive and rapidly lethal primary synovial sarcoma of the thyroid. A 72-year-old woman presented with extensive local invasion, rapid progression, and early distant metastasis secondary to primary thyroid synovial sarcoma. The tumor exhibited an atypical histologic and immunohistochemical staining pattern. Detection of SYT/SSX fusion transcript confirmed the diagnosis of synovial sarcoma. Due to the aggressive nature of primary synovial sarcoma of the thyroid gland, early diagnosis and comprehensive treatment including wide resection and postoperative chemoradiation is required.

Synovial sarcoma in the buccal space: a case report

Synovial sarcoma (SS) is a malignant soft tissue tumor comprising 5-10% of all soft tissue sarcomas. This tumor normally occurs in the para- articular regions of the extremities but is rare in head and neck sites. SS is sometimes difficult to diagnose because it can mimic benign lesions both clinically and radiologically. This paper presents a rare case of a SS of the buccal space of a 25-year old man. The histology examination and immunohistochemistry of the mass led to a diagnosis of synovial sarcoma. The patient was treated primarily with a surgical resection, followed by radiotherapy and chemotherapy. The follow up examination 17-months after surgery showed no signs of tumor relapse or metastasis.

Malignant inguinal monophasic synovial sarcoma: report of a case and review of the literature

BackgroundA synovial sarcoma (SS) is an aggressive soft tissue tumor that classically occurs in the extremities near, but rarely within large joints, in young adults. Variable symptoms and clinical manifestations may be encountered and a definite diagnosis should depend on pathological results. This poses certain difficulties in arriving at a prompt diagnosis and appropriate treatment.Case presentationWe report the case of a 68-year-old woman patient who presented an inguinal mass with swelling and pain in the right lower limb. She underwent surgery, and later received systematic intravenous chemotherapy. The pathological studies, especially the specific chromosomal translocation of a t(X;18) (p11.2;q11.2), confirmed the diagnosis as a synovial sarcoma. To the best of our knowledge, this is the first report of a monophasic synovial sarcoma in the inguinal region.ConclusionBesides making the readership aware of the rarity of location and age of this present case, this report distinctly highlights the great value of a molecular analysis of an SYT associated genetic alteration in the diagnosis of synovial sarcoma occurring at rare sites especially when immunochemical results are equivocal.

Monophasic parapharyngeal synovial sarcoma diagnosed by cytology, immunocytochemistry, and molecular pathology: Case report and review of the literature

Synovial sarcoma (SS) of the head and neck region are rare, accounting for less than 10% of all head and neck soft tissue sarcomas. A limited number of SS have been reported in the parapharyngeal space and these reports have all been based on histological examination of resection material. The diagnosis of monophasic SS on cytology is extremely difficult. We report the first case where a SS was correctly diagnosed on a fine needle aspirate by cytology with the assistance of immunocytochemistry and fluorescence in situ hybridization. We will emphasize the importance of ancillary techniques, such as immunocytochemistry and cytogenetic/molecular pathology, in avoiding diagnostic pitfalls and correctly diagnosing monophasic SS on cytologic material. We will propose an algorithmic approach to accurately diagnose parapharyngeal spindle cell neoplasms with the use of appropriate ancillary studies in conjunction to morphological features.

Diagnostic utility of dual-color break-apart chromogenic in situ hybridization for the detection of rearranged SS18 in formalin-fixed, paraffin-embedded synovial sarcoma

Pathological diagnosis of synovial sarcoma is often problematic due to its broad spectrum of histology. Because synovial sarcoma consistently carries a specific chromosomal translocation, t(X;18), and its derivative chimeric gene, either SS18-SSX1 or SS18-SSX2, detecting these abnormalities by reverse transcription polymerase chain reaction or fluorescence in situ hybridization has been recognized as a powerful aid for diagnosis. Recently, chromogenic in situ hybridization, which enables simultaneous visualization of both genomic abnormality and the morphology of tumor cells, has gained attention. This study investigated the diagnostic utility of dual-color break-apart chromogenic in situ hybridization as a novel method for detecting SS18 rearrangement in synovial sarcoma. Formalin-fixed, paraffin-embedded tissue samples from 16 cases of synovial sarcoma and 10 cases of 5 other types of soft tissue sarcoma were collected. Dual-color break-apart probes were designed against the genomic region adjacent to SS18. Fluorescence and chromogenic in situ hybridization studies were performed using the same sections. In both assays, the number of signals was counted for sixty nuclei per sample. Scoring ratios (unpaired signals/paired signals) were calculated. Subsequently, SS18-SSX1 and SS18-SSX2 were examined by reverse transcription polymerase chain reaction. The results of chromogenic in situ hybridization, fluorescence in situ hybridization, and reverse transcription polymerase chain reaction were correlated. Unpaired signals were clearly observed in all the synovial sarcoma samples, which mostly indicated rearranged SS18. Synovial sarcoma and non-synovial sarcoma samples were clearly distinguished from each other by the scoring ratios. Reverse transcription polymerase chain reaction demonstrated SS18 chimeric gene transcripts in all the synovial sarcoma cases, while no fusion genes were detected in the non-synovial sarcoma cases. Taken together, unpaired signals in synovial sarcoma reflected rearranged SS18. The present chromogenic in situ hybridization-based SS18 rearrangement detection system provides a highly sensitive and specific method for the diagnosis of synovial sarcoma. Chromogenic in situ hybridization-based methods have great potential for routine use in the diagnosis of synovial sarcoma.

Synovial sarcoma: a rare presentation of parapharyngeal mass

Synovial sarcoma is a rare soft tissue sarcoma of the head and neck region involving the parapharyngeal space. The diagnosis of synovial sarcoma can be very challenging to the pathologists. We present a rare case of parapharyngeal synovial sarcoma in a young female patient who had a two-month history of left cervical intumescent mass at level II. The fine needle aspiration cytology of the mass was proved inconclusive. Transcervical excision of the mass was performed and the first case of parapharyngeal sarcoma was identified in our center by fluorescence in situ hybridization (FISH) technique. Repeat imaging revealed residual tumor. The patient successfully underwent a second excision of the residual tumor and received adjuvant radiotherapy.

Diagnosis of synovial sarcoma by fine-needle aspiration biopsy and interphase FISH: report of a case

Diagnosis of synovial sarcoma by fine-needle aspiration biopsy and interphase FISH: report of a case

Pediatric synovial sarcoma of the sacrum: a case report

We reported a rare synovial sarcoma arising within sacrum of a 12-year-old boy. A plain radiograph, magnetic resonance imaging performed before surgery, and the intraoperative findings showed that the tumor was S2 and below. Immunohistochemically, desmin and CD34 were negative. CK, CK7, CK1, CK3, CK8, CK19, Bcl-2, E-cadherin, ki-67, P53, SMA, CD99, CD56, S-100, vimentin, and epithelial membrane antigen were positive. Some were focal positively reactive to S-100, P53, and ki-67. The spindle cells were strongly positive for vimentin and CK3. The immunohistochemical findings confirmed its diagnosis of synovial sarcoma.

Malignancy as a Possible Complication of Complex Regional Pain Syndrome: A Case Report

A synovial sarcoma presented in the knee of a young woman 20 years after the onset of pain which was attributed to complex regional pain syndrome (CRPS). Was this a chance occurrence, or could there be any link between the two conditions? Did the pain itself and the persistent inflammatory and immunological response to pain contribute to the development of malignancy, or could the malignancy have been present subclinically for many years and have contributed to the ongoing pain syndrome? This case report looks into the diagnosis of synovial sarcoma and CRPS and the relationship between the neurogenic inflammation seen in CRPS and that seen in malignancies. The diagnosis of CRPS is a diagnosis of exclusion. Constant vigilance of patients with this unpleasant condition is necessary.

12. Molecular tools for diagnosis of synovial sarcomas: correlation of RT-PCR and fish on paraffin embedded material

Background Synovial sarcomas (SS) comprise 8–10% of soft tissue tumours, may occur at any site, are histologically diverse, and immunohistochemistry is not diagnostic. This makes diagnosis difficult, particularly in SS arising in uncommon sites such as the thorax. SS are characterised by a (X;18) (p11.2;q11.2) chromosome translocation fusing SYT with any of several SSX genes to create a functional SYT-SSX fusion protein. Fluorescence in situ hybridisation (FISH) can detect the translocation on paraffin sections, but has limitations. Reverse transcription PCR may be more sensitive and provides DNA sequence information, but fresh material is rarely available. Aims To perform RT-PCR on archival paraffin-embedded blocks of SS in typical sites with typical morphology (low diagnostic ambiguity, n = 14;7) and in difficult SS cases (previously diagnosed as such based on traditional techniques) arising in the thorax (n = 14; 9). Methods RNA was extracted, reverse transcribed, the SYT-SSX translocation was amplified by PCR and se-quenced. Sections of the same block underwent FISH analysis. Results Of the typical SS cases, 6/7 (85.7%) amplified SYT-SSX, and 5/6 (83.3%) were concordant with FISH. Of the thoracic cases, 4/9 (44.4%) were SYT-SSX positive by PCR, concordant with FISH in 7/8 cases (87.5%). Conclusion RT-PCR correlates well (85% concordance) with FISH, but has greater sensitivity. In the atypical cases, less than 50% were confirmed as SS cases by molecular techniques, and the negative cases are now undergoing review. Molecular testing should be added to the repertoire of tools available for SS diagnosis, particularly when the cases are atypical or entirely monophasic. Acknowledgements L. M. Stimmler received an RCPA undergraduatescholarship (2007).

Primary synovial sarcoma arising from a crossed ectopic kidney with fusion

Crossed renal ectopia with fusion is a rare anomaly of the kidney. The present case report describes a 67-year-old man with renal tumor who had been diagnosed as having a crossed ectopic kidney with fusion for 25 years. The pathological diagnosis of the primary tumor specimen was Wilms' tumor with favorable histology. Upon tumor recurrence, molecular detection of SYT-SSX2 fusion transcripts lead to the diagnosis of synovial sarcoma of the kidney. To our knowledge, this is the first case of primary synovial sarcoma arising from a crossed ectopic kidney with fusion.

TLE1 expression is not specific for synovial sarcoma: a whole section study of 163 soft tissue and bone neoplasms

TLE1, a transcriptional repressor essential in hematopoiesis, neuronal differentiation and terminal epithelial differentiation, has recently been shown in a single tissue microarray study to be a highly sensitive and relatively specific marker of synovial sarcomas. Expression of TLE1 has not, however, been studied in standard sections of soft tissue and bone tumors. We investigated TLE1 expression in a large series of well-characterized mesenchymal tumors, to more fully characterize the range of TLE1 expression. Standard sections of 163 bone and soft tissue tumors were immunostained for TLE1 (sc-9121, 1:100; Santa Cruz Biochemicals) using the Dako Dual Envision+ detection system. Nuclear positivity was scored as negative (<5% of cell positive), 1+ (5–25% of cells positive), 2+ (25–50% of cells positive), and 3+ (>50% of cells positive). Overall, TLE1 was expressed by 18 of 20 (90%) of synovial sarcoma, with 16 cases (89%) showing 2–3+ positivity. However, TLE1 expression was also seen in 53 of 143 (37%) non-synovial sarcoma, with 36 such cases (25%) showing 2–3+ positivity. TLE1 expression was commonly seen in peripheral nerve sheath tumors, including 33% of neurofibromas, 100% of schwannomas, and 30% of malignant peripheral nerve sheath tumors. Among non-neoplastic tissues, nuclear TLE1 expression was variably present in basal keratinocytes, adipocytes, perineurial cells, endothelial cells and mesothelial cells. Our study confirms the excellent sensitivity of TLE1 for synovial sarcoma. However, TLE1 expression is by no means specific for synovial sarcoma, being present in a number of tumors, which enter its differential diagnosis, in particular tumors of peripheral nerve sheath origin. Heterogeneity of TLE1 expression likely explains the differences between the present standard section study and the earlier TMA study. TLE1 may be of value in the differential diagnosis of synovial sarcoma, but should be used only in the context of a panel of antibodies. Morphology, ancillary immunohistochemistry for traditional markers such as cytokeratins and CD34, and molecular confirmation of synovial sarcoma-associated fusion genes should remain the ‘gold standards’ for this diagnosis.

A Case of Primary Synovial Sarcoma of the Thorax With a Variant SYT-SSX1 Fusion Transcript

With synovial sarcoma (SS) of the thorax, being exceptionally rare, its definite diagnosis is difficult, and the optimal therapy has not yet been established. An examination of our patient, a 64-year-old man with SS using a chest roentgenogram showed a large mass with homogeneous density in the lower two-thirds of the left hemithorax. A computed tomographic image of the chest revealed a large, heterogeneous, enhanced mass in the left hemithorax. Histologic examination of the resected tumor tissues suggested monophasic fibrous SS. A fragment of the SYT-SSX1 fusion transcript, which was smaller than the control, was amplified with reverse transcriptase polymerase chain reaction. Direct sequence analyses revealed the fusion between exon 9 of SYT and exon 5 of SSX1 instead of fusion between exon 10 of SYT and exon 6 of SSX1, which is found in most cases. Although the biological and clinical significance of this rare variant is not yet known, our data present another example of the usefulness of molecular analyses for making a definite diagnosis of SS in unusual sites.

Proliferation heterogeneity in synovial sarcoma (SS) defines different patterns of clinical outcome: A retrospective study of 32 patients

e21511 Background: SS is an aggressive soft tissue sarcoma (STS) characterized by a constitutive overexpression of the bcl-2 proteins and high proliferation rate (Ki67). The aim of the study was to evaluate prognostic value of proliferative activity and apoptosis in SS. Methods: A retrospective analysis of 32 patients treated at three oncology centers between January 2000 and August 2008 was conducted. Histologic diagnosis of SS was confirmed by FISH analysis of t(X;18). Bcl-2 and Ki67 were determined by immunohistochemistry at baseline and after neoadjuvant chemotherapy (CT). A cut-off value of 20% was established for Ki67. The bcl-2 gene status was evaluated by FISH in neoadjuvant subgroup. Treatment-induced pathological response (pCR) was defined as tumor necrosis of 100%. Endpoints were recurrence rate (RR), disease-free survival (DFS) and overall survival (OS). Clinical and pathological variables were considered in uni- and multivariate analysis. Results: 13/32 patients received an anthracycline/ifosfamide-based chemotherapy (CT) before surgery. 8 pts received concomitant radiotherapy. A median number of 3 cycles of neoadjuvant CT was administered. All patients underwent surgical resection and pathologic assessment of the coexpression of bcl-2 and Ki67 was evaluated in the resected specimens. At baseline, all samples showed immunoexpression of bcl-2 and 9/13 had Ki67 more than 20%. After neoadjuvant CT, Ki67 was downregulated &lt;20% in 11/13 samples and bcl-2 was negative in 4/13 pts. At FISH analysis, bcl-2 gene was neither rearranged nor amplified. After a median follow-up of 21 months (range 13–64 months), 9/13 pts without pCR experienced progression disease and 5 of them were dead of SS. At uni- and multivariate analysis, both pCR and downregulation of bcl-2 and Ki67 activity had a significant impact on DFS and OS (p=0.03). Conclusions: 1. Downregulation of bcl-2 and Ki67 index after treatment could be a predictor of recurrence and overall survival. 2. SS is characterized by cellular heterogeneity in which a high proliferative compartment coexists with low proliferative/anti-apoptotic compartment with different response to treatment. No significant financial relationships to disclose.

Mediastinal Synovial Sarcoma

Synovial sarcoma of the mediastinum is a rare neoplasm that has overlapping histological and immunophenotypic features with other tumors in the differential diagnosis. We describe a case of this disease. The tumor was located at the right side of the pericardium, where an FDG-PET scan showed an uptake. It was resected, a resection which was complicated by the necessity of partially resecting the pericaridium and right middle lobe which were invaded by the tumor. The doubling time of the main tumor was 11.8 days. The margin of the resected specimen was tumor-free both macro- and microscopically. Reverse transcription-PCR confirmed the diagnosis of synovial sarcoma. The patient rejected chemotherapy or radiation therapy, and had recurrent tumors only one month after the operation. Finally, she opted to have only palliative care and died 79 days after the operation.

Synovial sarcoma: Diagnosis on fine‐needle aspiration by morphology and molecular analysis

Synovial sarcoma (SS) is characterized by the t(X; 18) (p11.2; q11.2) translocation resulting in the SYT-SSX fusion transcript, detectable by reverse transcriptase polymerase chain reaction (RT-PCR). Fine-needle aspiration (FNA) cytology diagnosis of SS is challenging. We evaluated the applicability of RT-PCR on FNAs and to perform a detailed cytomorphological analysis in unequivocal cases of SS. A prospective and retrospective analysis was performed over 4 years (2003-2007). Prospectively, FNAs positive for the SYT-SSX fusion transcript by RT-PCR (n = 6) and, retrospectively, cases proven on histopathology and immunohistochemistry (ICC; positivity for vimentin and epithelial membrane antigen [EMA]/cytokeratin) as SS (n = 10) were included in the study. A detailed cytomorphological analysis was carried out. There were 9 biphasic and 7 monophasic tumors. The aspirates from both biphasic and monophasic tumors were richly cellular in all cases with micro tissue fragments. Pericapillary arrangement of tumor cells was present in most cases. Attempted gland formation was seen in 7 of 9 biphasic tumors. The individual tumor cells were round, ovoid, or spindle shaped. Pleomorphism was mild; monophasic tumors displayed lesser pleomorphism as compared with the biphasic ones. Nuclear chromatin was bland in all cases except 1 and nucleolar prominence was seen in just 3 biphasic tumors. Mast cells were seen in 3 biphasic and 2 monophasic tumors. Scanty to moderate extracellular matrix material was seen in 5 cases. FNA cytology of SS shows a spectrum of cytomorphological features; the diagnosis is confirmed by RT-PCR on the aspirated material for the SYT-SSX fusion transcript.

Primary mediastinal synovial sarcoma: a case report and review of the literature

Primary mediastinal synovial sarcoma is a rare malignancy with only a few cases reported so far. A 56-year-old woman was admitted to our hospital for an investigation of a nodule in the left middle lung on chest radiography. Computed tomography revealed a mediastinal mass first described as a solitary fibrous tumor. The diagnosis of synovial sarcoma was established by computed tomography-guided percutaneous needle biopsy. Work up showed no metastasis to distant organs or contralateral pleural cavity. The mass was surgically resected; pathological and immunohistochemical analyses confirmed the diagnosis of a monophasic spindle cell synovial sarcoma probably originating from phrenic nerve. The patient received adjuvant chemotherapy and radiation and is free of recurrence after a follow up of 16 months.

Primary endobronchial synovial sarcoma confirmed by SYT-SSX1 fusion gene transcript by reverse transcriptase polymerase chain reaction

Primary sarcomas of lung are rare compared to metastatic sarcomas. Herein, we report a rare case of primary pulmonary synovial sarcoma with polypoid endobronchial growth in a 35-year-old lady who presented with cough and dyspnea. A malignant pulmonary tumor was suspected and left pneumonectomy was performed. Grossly, a non-encapsulated polypoidal endobronchial tumor measuring 6 cm in greatest diameter, with a solid, tan-white cut surface was identified. Microscopically, tumor was characterized by a proliferation of oval to spindle-shaped cells arranged in sheets and fascicles. Focal hemangiopericytomatous pattern was noted. Immunohistochemically, tumor cells were positive for vimentin, BCL-2, MIC-2 and calponin and focally positive for pancytokeratin and epithelial membrane antigen. A subsequent molecular analysis performed using reverse transcriptase-polymerase chain reaction with RNA extracted from paraffin-embedded tissue, revealed SYT/SSX1 fusion gene which confirmed the diagnosis of synovial sarcoma. The utility of immunohistochemistry and molecular techniques in diagnosis of such a rare case is stressed and the relevant literature is discussed.