Monophasic Synovial Sarcoma Research Articles

Metastasis to orbit: A case series from tertiary eye center in Western India

This study aims to understand the pattern of the metastatic tumors to orbit in a tertiary eye center. Metastasis to orbit is extremely rare and challenging to diagnose and often mimics with primary orbital tumor. Due to the tremendous recent advances in cancer therapy, surveillance, ancillary histopathology, and imaging techniques for primary tumor diagnosis, the longevity of patients increases, leading to more chances of detection of orbital metastasis. We retrospectively studied and reviewed a case series of five patients with orbital metastasis from various systemic malignancies from 2018 to 2023. Out of five patients, three patients were from metastasis from breast carcinoma, one from neuroblastoma, and monophasic synovial sarcoma each, found a median age of 49 years (range=3–70 years). The most common symptoms and sign were painful proptosis and restriction of ocular motility, respectively.

Primary Monophasic Omental Synovial Sarcoma in Nulliparous Female: A Case Report

Synovial Sarcoma (SS) is an uncommon soft-tissue malignancy that primarily occurs near tendon sheaths and bone joints. Its primary intra-abdominal location is infrequent and characterised by non specific clinical signs. The mainstay of treatment remains wide local excision with negative margins. Hereby the authors report a rare case of monophasic omental SS in a 30-year-old nulliparous female who presented with chief complaints of an enlarging lump in the right abdominopelvic region over the past year and constipation for three months. The mass was non mobile and non tender. The rest of the physical and laboratory examinations were normal. She has a history of diagnostic laparoscopic excision (for the same complaint) of bilateral adnexal masses with right salpingectomy done three months ago in an outside set-up where histopathology diagnosed the mass as a low-grade fibromyxoid tumour. Presently, Contrast- enhanced Magnetic Resonance Imaging (CEMRI) revealed a large lobulated heterogeneous mass of 19.5×15.4×20 cm extending into mesorectal fat and encasing the sigmoid colon, rectosigmoid junction, uterus, and bilateral ovaries. The patient was taken for emergency surgery as she started displaying symptoms of acute obstruction. Debulking surgery (R2 resection) with ileostomy was performed. Histopathology and immunohistochemistry confirmed the diagnosis of monophasic SS. The patient was started on doxorubicin and has completed three cycles of chemotherapy. SS is an infrequent entity with high mortality rates. The main course of treatment is surgery with healthy resection margins. Long-term follow-up is required due to the high recurrence rate.

Extremely rare presentation of primary jejunal monophasic synovial sarcoma

Extremely rare presentation of primary jejunal monophasic synovial sarcoma

A case of primary mesenteric synovial sarcoma: a challenging presentation

BackgroundSynovial sarcoma is an uncommon soft tissue malignancy that mainly occurs near tendon sheath and bone joints. Primary intra-abdominal location is exceedingly rare and characterized by non-specific clinical signs.Case presentationWe report the case of a young female without medical history who presented with acute abdominopelvic pain. Ultrasound echography revealed a right mass measuring 7 cm in greater diameter cystic with solid areas, likely of ovarian origin. A coelioscopy with peritoneal biopsies was performed. Histological examination with immunohistochemistry concluded the diagnosis of GIST. The patient was referred to the surgery department and after laboratory routine analysis and computed tomography, the patient was proposed to surgical management. Per-operative findings revealed a mesenteric mass locally invading the greater omentum and the appendicular wall. Pathological examination with immunochemistry confirmed the diagnosis of mesenteric monophasic synovial sarcoma invading the appendicular wall with positive surgical margins. Chemotherapy was proposed with a good response. Our patient is free from disease 9 months later.ConclusionsWe aimed through this case report to discuss mesenteric presentation monophasic SS, mimicking ovarian malignancy, emphasizing clinicopathological features and differential diagnoses.

Synovial sarcoma of the oral cavity: Report of 4 cases and review of the literature

Abstract Synovial sarcoma is a rare and high-grade soft tissue tumour that rarely affects the head and neck region. Approximately 90% of synovial sarcomas are seen in the extremities. About 5 to 10% occur in the head and neck region with high incidences in the parapharyngeal space and hypopharynx. In the oral cavity, synovial sarcoma has been reported in the buccal mucosa, tongue, floor of the mouth, the retromolar region, hard and soft palates, the gingivobuccal sulcus and the mandible. In this paper, we report 4 very rare cases of monophasic synovial sarcoma of the oral cavity and highlight the need for proper diagnosis and treatment plan in the cases of synovial sarcoma. So far, around 250 cases of synovial sarcoma of head and neck have been reported in the literature. In India, on extensive literature search we could retrieve 18 cases of synovial sarcoma involving the head and neck region, of these 11 cases of primary synovial sarcoma involving the oral cavity have been reported previously. To our knowledge, this is the first series of primary synovial sarcoma of the oral cavity in the Indian literature.

Novel characteristics for immunophenotype, FISH pattern and molecular cytogenetics in synovial sarcoma

As a rare and highly aggressive soft tissue sarcoma, the new immunophenotype, atypical FISH pattern and relevant molecular cytogenetics of synovial sarcoma (SS) remain less known, although it is characteristically represented by a pathognomonic chromosomal translocation t (X; 18) (p11.2; q11.2). Methodologically, the morphology was retrospectively analysed by using H&E staining, and immunohistochemical features were investigated by using markers that have been recently applied in other soft tissue tumors. Moreover, FISH signals for SS18 and EWSR-1 break-apart probes were examined. Finally, cytogenetic characteristics were analysed via RT-PCR and Sanger sequencing. Consequently, nine out of thirteen cases that were histologically highly suspected as SS were finally identified as SS via molecular analysis. Histologically, nine SS cases were divided into monophasic fibrous SS (4/9), biphasic SS (4/9) and poorly differentiated SS (1/9). Immunohistochemically, SOX-2 immunostaining was positive in eight cases (8/9) and PAX-7 immunostaining was diffusely positive in the epithelial component of biphasic SS (4/4). Nine cases showed negative immunostaining for NKX3.1 and reduced or absent immunostaining for INI-1. Eight cases showed typically positive FISH signalling for the SS18 break-apart probe, whereas one case exhibited an atypical FISH pattern (complete loss of green signalling, case 2). Furthermore, the SS18-SSX1 and SS18-SSX2 fusion genes were identified in seven cases and two cases, respectively. The fusion site in 8 out of 9 cases was common in the literature, whereas the fusion site in case 2 was involved in exon 10 codon 404 in SS18 and exon 7 codon 119 in SSX1 (which has not been previously reported), which notably corresponded to the complete loss of green signalling in the FISH pattern. Additionally, FISH analysis of the EWSR-1 gene in nine SS cases demonstrated aberrant signalling in three cases that were recognized as a monoallelic loss of EWSR-1 (1/9), an amplification of EWSR-1 (1/9) and a translocation of EWSR-1 (1/9). In conclusion, SS18-SSX fusion gene sequencing is obligatory for a precise diagnosis of SS when dealing with a confusing immunophenotype and atypical or aberrant FISH signalling for SS18 and EWSR-1 detection.

Monophasic pericardial synovial sarcoma in a turkish female patient: a very rare case with cyto-histopathological findings

BackgroundThe aim was to present a 35-year-old female patient with diagnosis of monophasic primary pericardial synovial sarcoma (PSS) with cytopathological findings.Case PresentationThe case with back pain, palpitation and weakness, was diagnosed with pericardial effusion and suspicious mass adjacent to right heart in ultrasonography. Computerized tomography showed mass 12 × 11 × 6.5 cm in size, located in right mid-anterior pericardial area, with heterogeneous internal structure, heterogeneously contrasting right heart and prominent pressure on superior vena cava. Cytopathology of pericardial effusion showed monotonous cells with oval-spindle vesicular nuclei, less amphophilic cytoplasm, evenly distributed chromatin and inconspicuous nucleoli. The pericardial mass was resected incompletely, spindle cell mesenchymal tumor with hypercellular fascicular structure and with infiltrative margins, containing a small amount of loose myxoid stroma, occasionally necrotic areas was observed histopathologically. Immunohistochemical positive reaction was for vimentin, Bcl-2, TLE-1. Accordingly, the case was diagnosed with monophasic PSS.ConclusionsThis case of monophasic primary PSS was an extremely rare malignancy diagnosed with the cytopathological findings.

Monophasic synovial sarcoma of the ethmoid sinus

Sino-nasal synovial sarcomas are rare mesenchymal tumours, most arising primarily from the paranasal sinuses. Very few have been described with an extension to the nasal cavity. Due to a range of non-specific symptoms and local aggressiveness, diagnosis tends to be confusing. Here we describe a case of a primary sino-nasal monophasic synovial sarcoma, diagnosed by histopathology and treated by excision and adjuvant radiation therapy. On follow-up, the patient had minimal residual disease and was further offered revision surgery and chemotherapy. She declined surgery and received chemotherapy, and remains symptom-free to date. A wide range of diagnoses should be considered for nasal masses since all tissue types coexist in this region.

The Vertical Rectus Abdominis Myocutaneous Flap for Complex Abdominal Wall Reconstruction on a Relapse Case of Monophasic Synovial Sarcoma

Introduction: Vertical Rectus Abdominis Myocutaneous (VRAM) flap is a chosen method for a large wound closure instead of Anterolateral Thigh (ALT) flap. Both versatile and highly vascularized flaps share almost similar advantages for large wound closure. In our case, the site and size of the wound are the points of consideration. Case Presentation: A 16-year-old girl with a chief complaint of a large progressive lower abdominal mass enlarged since January 2021 that has grown back from the same site. Abdominal CT-Scan shows a tumor in the right lower abdomen infiltrated to the pelvic cavity and spanning from the lower abdominal area all the way to the groin area. Histopathology interpretation suggests a Monophasic Synovial Sarcoma. The patient underwent a second tumor resection with VRAM flap as the wound closure. The benefits of this versatile flap are excellent dead space obliteration and low Surgical Site Occurrence (SSO’s). Conclusion: As postulated in many studies VRAM flap is an excellent flap for a CAWR procedure. The expected SSO’s is non-existence during the postoperative follow-up

Synovial sarcoma of the tibial nerve - case report of a rare tumor in a rare location requiring early diagnosis

BackgroundWe present the case of a patient with a rare synovial sarcoma (SS) of the tibial nerve. So far, only 4 cases of patients with SS originating from the tibial nerve have been described in the literature, and our patient is only the second patient whose limb was saved during treatment. Synovial sarcomas are malignant mesenchymal tumors, i.e., tumors arising from connective tissue. Synovial sarcomas account for 5–10% of all soft tissue sarcomas. However, the name synovial sarcoma is misleading, because the tumor does not originate from synovial cells, but rather from primitive mesenchymal cells. The name most likely originated from the localization around the large joints on the limbs, more often on the lower ones, in the area of the knee joints.We point out the aspects of correct and quick diagnosis and subsequent treatment, which has very important effect on the patient’s prognosis. Primary less radical excision without prior biopsy verification leads to a higher risk of local recurrence, even if a proper reexcision was performed immediately after biopsy verification of the sarcoma.Case presentationA woman born in 1949 began to suffer at the end of 2020 with escalating pain under the left inner ankle with a projection to the sole and fingers. Her personal, family work and social history were insignificant. After the initial neurological examination, the patient was sent for an ultrasound examination of the ankle, which showed a lobular mass measuring 50 × 22 × 16 mm and according magnetic resonance imaging, the finding appeared to be a suspicious neurinoma of the tibial nerve. The tumor was surgically excised, without prior biopsy verification: a 50 × 20 mm tumor was dissected in the distal part of the tarsal canal, which grew through the structure of the tibial nerve and in some places into the surrounding area and appeared intraoperatively as a neurofibroma. But histologically the tumor was classified as monophasic synovial sarcoma. The patient was indicated for a wide reexcision of the skin with the subcutaneous tissue of size 91 × 20 × 15 mm. Now the patient is being treated with external radiotherapy to the tumor bed and she is able to walk.ConclusionThis report draws attention to a rare type of malignant nerve tumor, which both clinically and radiologically can mimic benign peripheral nerve sheath tumors. Synovial sarcoma should be considered in very painful resistances, typically located around the joints of the lower limbs, the growth of which can be slow. Because the size of the tumor is a negative prognostic factor, it is necessary to make a timely diagnosis using MR imaging and a biopsy with histological examination and to start treatment quickly. Surgical treatment should take place only after a biopsy with histological examination of the tumor so that it is sufficiently radical and does not have to undergo an additional reoperation, as happened in the case of our patient.

Monophasic synovial sarcoma mimicking schwannoma: a case report of a rare peripheral nerve tumor and literature review

ABSTRACT Introduction Synovial sarcomas occurring as primary nerve tumors (SSPN) are rare and only 69 cases of SSPNs are reported in literature. Despite the little data available, SSPNs differ from other SSs in some distinctive aspects such as epidemiology, location, and early onset of symptoms. SSPN are consequently underdiagnosed and easily mistaken for benign or malignant peripheral nerve sheath tumors (PNST). Therefore, cytogenetic or molecular testing becomes essential in order to make a correct diagnosis. This article deals with an extremely rare case of monophasic SSPN of the posterior cords of the right brachial plexus. To our knowledge, this is only the tenth case of intraneural synovial sarcoma involving the brachial plexus. Case Presentation We report the case of a 64-year-old man, who came to our attention due to a slow-growing painful right axillary neoformation, approximately 25 mm in size. The patient did not show any neurological impairments. Ultrasonography and constrast MRI showed a heterogeneous mass arising from the posterior cord of the right brachial plexus, resembling a schwannoma. The patient underwent total resection of tumor and capsule. Histologically, a diagnosis of monophasic synovial sarcoma was made based on histologic features and the immunohistochemical profile. Conclusions We report a rare primary synovial sarcoma of the brachial plexus. Given its rarity, the diagnosis may be challenging and requires a core biopsy or the surgical specimen to permit immune-molecular analysis. Margin-free surgery is the mainstay of curative treatment, while chemo- or radiotherapy may have a role in advanced or margin-positive neoplasms.

Localised Synovial Sarcoma in Adolescents and Young Adults Versus Adults – Is There a Difference in Outcome?

AimsSynovial sarcomas are a rare subgroup of soft-tissue sarcoma arising in adolescents and young adults (AYA) and in adult patients. The objective of our analysis was to investigate the outcomes and potential differences of AYA versus adult patients with initially localised disease. Materials and methodsIn total, 51 patients (25 AYA and 26 adult) were identified and evaluated in this retrospective single centre analysis. Baseline characteristics, treatment and outcome were assessed. ResultsThe predominant subtype in both groups was monophasic synovial sarcoma (17 AYA and 21 adult) and the most common site was the extremities (14 and 19 patients) with deep tumour location in both groups (33 and 24 patients). More AYA patients had tumours >5 cm (13/25 patients) when compared with adults (10/26 patients, P = n.s.). Primary wide resection was carried out in 15 AYAs and in 18 adults. Postoperative radiation therapy was the only statistical difference between AYA (n = 19) and adult patients (n = 12; P = 0.029). Nineteen and 17 patients, respectively, received adjuvant chemotherapy with no evidence of disease after six cycles. Nine and 11 patients relapsed after initial therapy and the most common metastatic site was the lung (eight versus nine patients). Five-year overall survival rates were 85% and 75%. Female gender, tumour size ≤5 cm and absence of progressive disease showed a significant association with overall survival in AYA patients (P = 0.013, P = 0.04 and P < 0.001), whereas non-extremity tumours and progression after initial therapy were significant for worse overall survival in adult patients (P = 0.012 and P < 0.001). No difference in overall survival between AYA and adult patients was observed (P = 0.899). ConclusionsAYA and adult patients showed no significant difference in terms of overall survival. Male gender, tumour size >5 cm and progressive disease were prognostic markers for worse outcome, whereas tumour location (non-extremity) and progression after initial therapy were markers for worse outcome in adult patients.

Abdominal Wall Synovial Sarcoma, a Rare Presentation

Synovial sarcoma is a malignant mesenchymal neoplasm which com- monly arises in the extremities of adults, in close associationwith joint capsules. Only a few cases of synovial sarcoma occurring in the abdominal wall have been reported. We report an extremely rare case of monophasic synovial sarcoma of abdominal wall in a 58-year-old woman who had presented with painless left ante- rior abdominal wall mass. The patient underwent excisional surgery. Histological and immunohistochemistry examinations revealed monophasic synovial sarcoma. Base on the diagnosis, the patientreceived chemoradiation.Primary synovial sarcoma is rarely found in the anterior abdominal wall. But, it should be included in the differential diagnosis.

Commentary on "Primary orbital monophasic synovial sarcoma with calcification: A case report".

The present letter to the editor is related to the study titled “Primary orbital monophasic synovial sarcoma with calcification: A case report’’. Orbital synovial sarcoma is one of the rare intraorbital masses seen in adult and pediatric populations. Some case reports in the literature revealed that synovial sarcoma may contain calcifications. Therefore, it is important to make differential diagnosis among calcified orbital masses in childhood.

Clinicopathologic features of a patient with primary monophasic synovial sarcoma of the jejunum.

A case of primary synovial sarcoma of the jejunum was collected and analyzed retrospectively. A 19-year-old man who presented to hospital with abdominal pain. The CT scan showed a large mixed abdominal mass with bleeding. Laparotomy revealed that the tumor originated from the jejunum, accompanied by rupture and hemorrhage. Microscopically, the tumor was composed of spindle cells. The tumor cells demonstrated diffuse expression of vimentin, transducin-like enhancer (TLE)-1, B-cell lymphoma protein (Bcl)-2, CD99 and focal expression of epithelial membrane antigen (EMA). The presence of specific SS18 gene rearrangement was confirmed in tumor cells. The patient received 6 cycles of chemotherapy after jejunal tumor resection. And 12 months later, the patient presented pancreatic metastasis and had radiotherapy. The patient died 15 months after the diagnosis.

Cardiogenic shock and tumor resection due to cardiac synovial sarcoma: a case report

BackgroundCardiac synovial sarcoma of the heart is a rare, aggressive mesenchymal tumor with poor prognosis, since complete resection is seldom feasible.Case presentationA 23-year-old man was referred in cardiogenic shock. Emergency computed tomography (CT) revealed a large tumor with obstruction of the right atrium (RA) and prolapse into the right ventricle (RV). Resection and pericardial patch plasty were performed. Histology confirmed a G-3 spindle-cell sarcoma. At 21 months postoperatively, CT and cardiac magnetic resonance (MR) angiography showed a tumor emerging from the lateral wall of the superior caval vein (SCV) and the RA. The RA and SCV were completely resected and replaced with a tailored Dacron tunnel prosthesis. Histology confirmed R0 resection of a G-3 spindle-cell sarcoma. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed a monophasic fibrous synovial sarcoma. Echocardiography upon discharge showed normal biventricular function. The heart was tumor-free upon PET-CT 24 months thereafter. A sudden progression with innumerable pulmonary nodules caused only minimal exertional dyspnea, and the patient received palliative monochemotherapy with ifosfamide. Thirty months after the first operation, he succumbed to hemorrhage from a brain metastasis.ConclusionsWe report an unusually long postoperative period of 30 months in our patient after resection of a very large right atrial sarcoma. Early diagnosis, aggressive surgical treatment, adjunctive chemotherapy and radiotherapy affect survival. Systematic inclusion of patients in multicenter initiatives, including biobanking, is necessary. Better knowledge of genetic defects relevant to these cardiac tumors will promote accurate diagnoses and suggest novel and personalized gene-based therapies.

PRIMARY SYNOVIAL SARCOMA OF THE PLEURA: A RARE DIAGNOSIS

TYPE: Late Breaking Abstract TOPIC: Disorders of the Pleura INTRODUCTION: Primary synovial sarcoma of the pleura is extremely rare and without a defined optimal treatment. We aim to raise awareness of this diagnosis and the challenges in its treatment. CASE PRESENTATION: A 52-year-old man, smoker (33 pack-year), was evaluated due to left pleuritic chest pain with associated fatigue and anorexia. At physical examination, reduced left hemithorax expansion was noted. Contrast-enhanced CT-scan revealed a pleural mass and pleural effusion. Trans-thoracic biopsy provided an initial diagnosis of solitary fibrous tumour of the pleura. PET-scan confirmed an isolated hypermetabolic pleural mass. Even though the clinical condition was fragile, becoming bedridden requiring hospitalization and supplement oxygen, he was submitted to surgery. Intra-operative left lung invasion was confirmed and he was submitted to extra-pleural pneumonectomy. Definitive anatomopathological examination revealed a pleural monophasic synovial sarcoma (with rearrangement of the SS18 gene) with lung, diaphragm and group 5 lymph nodes involvement. He went through 6 cycles of doxorubicin and ifosfamide. Pulmonary rehabilitation and palliative care were offered, achieving a performance status of 0. One-year post-surgery, peritoneal and abdominal lymph nodes recurrence were detected and he was submitted to additional chemotherapy. Unfortunately, the disease progressed and the patient died 23 months after the surgery. DISCUSSION: We underline the impact of the extensive initial surgery combined with chemotherapy, rehabilitation and palliative care in the improvement of performance status and quality of life. CONCLUSIONS: Synovial sarcoma of the pleura has a high rate of mortality and morbidity with an important role of extensive resection surgery. DISCLOSURE: No significant relationships. KEYWORD: Synovial sarcoma

A rare case of metastatic synovial sarcoma initially masqueraded as bronchogenic carcinoma: A case report

Synovial Sarcoma (SS) is a rare type of highly aggressive sarcomatoid neoplasm, that commonly affects the extremities. Primary pulmonary and intra-abdominal SS are extremely rare. However, metastasis to lungs from other sites is far more common. Diagnosis usually depends on histopathological evaluation (HPE) and immunohistochemistry (IHC) analysis. SS18–SSX fusion gene Cytogenetics is the confirmatory test. Here we report a case of a 54-year-old male smoker who presented with left-sided chest pain for one month primarily raised the suspicion of bronchogenic carcinoma based on chest radiograph. The further radiological evaluation demonstrated heterogeneously enhancing multiple soft tissue densities in the left hemithorax and the abdominal cavity. A diagnosis of monophasic metastatic SS was established after HPE and IHC analysis which showed spindle cells that were positive for CD 99, Bcl2, TLE 1 and D240. HPE with IHC analysis could serve as a helpful diagnostic tool to overcome the diagnostic dilemma. Metastatic workup is mandatory in all cases of SS because of the aggressive nature of the tumour.

A Transthoracic Ultrasound-Guided Needle Biopsy Provided the Diagnosis for a Synovial Sarcoma of the Pleura

A case report is presented of a 72-year-old woman with monophasic synovial sarcoma of the buttocks, diagnosed four years before. The tumor was treated with surgical removal followed by radiotherapy. The patient regularly underwent follow-up examinations and the last chest computed tomogram (CT) showed a left-sided pleural mass and ipsilateral effusion. The patient was admitted in hospital to obtain a specific histological diagnosis before treatment of chest pathology was initiated. An ultrasound (US)-guided fine needle aspiration biopsy (FNAB) of the pleural lesion and US-guided thoracentesis with drainage of blood serum pleural fluid were performed. The pathological examination of the lesion revealed a definitive diagnosis of synovial sarcoma of the pleura. For pleural-based lesions, the diagnostic accuracy of US-guided biopsy is similar to that of CT-guided biopsy, with a lower complication rate, the absence of radiation exposure to patients, and a significantly reduced procedural time. The presence of pleural effusion creates a favorable acoustic window for US-guided biopsy of pleural lesion, which is useful for the diagnosis.

Massive primary cardiac synovial sarcoma of the left atrium: a case report

BackgroundSynovial sarcomas are tumors typically located in the extremities and characterized by a t(X;18)(p11.2;q11.2) chromosomal translocation. With only around 100 cases reported in the literature, cardiac synovial sarcomas are extremely rare.Case presentationWe describe a case of a 59-year-old male who presented to his primary care physician with chest pain, palpitations, and dyspnea and was diagnosed with atrial flutter. Following atrial ablation, a transthoracic echocardiogram incidentally revealed a 5.5 × 5.0 cm heterogeneous mass. Further workup found a heterogeneous mass with mild fluorodeoxyglucose uptake that was abutting the left atrium, left ventricle, and left pulmonary veins. The tumor was resected and confirmed to be a monophasic synovial sarcoma with a SS18-SSX gene fusion. Four months post-operative, the patient had recovered well from surgery. He is currently undergoing concurrent radiation and chemotherapy.ConclusionsDue to the rarity of this tumor, guidelines on diagnosis and treatment come only from case reports. Our case describes a primary cardiac synovial sarcoma arising from the left atrium in the atrioventricular groove in which diagnosis of atrial flutter preceded detection of the mass.