A giant synovial sarcoma of the left lung.

Primary pulmonary synovial sarcoma is an extremely rare and aggressive neoplasm that primarily affects young people and has a poor prognosis. Establishing this diagnosis requires the exclusion of a wide number of other neoplasms with multimodal clinical, imaging, histological, immunohistochemical, and cytogenetic assessment. We present a case of synovial sarcoma of the left lung in a 44-year-old man, diagnosed immunohistochemically after left lower lobectomy with atypical resection of the 5th segment. Imaging, diagnostic workup, histological and immunohistochemical characteristics, surgical treatment, and prognosis are discussed.

[Imaging characteristics and diagnosis of primary middle mediastinal tumors].

Objectives: To investigate the proportion of different histological types and CT enhanced imaging features of primary middle mediastinal lesions in order to improve the understanding of these tumors and the accuracy of preoperative diagnosis. Methods: Retrospective analysis was conducted on 84 patients with primary middle mediastinal lesions and clear histological classifications diagnosed and treated at the Cancer Hospital, Chinese Academy of Medical Sciences from January 2012 to December 2022. Clinical, imaging, and pathological data were collected and classified according to tumor histological classifications. CT imaging manifestations such as tumor location, size, morphology, edge, boundary, internal components, enhancement characteristics, and surrounding tissue invasion were evaluated and recorded. Results: The histological types of the primary middle mediastinal lesions from the 84 patients included mesenchymal tumors, anterior intestinal cysts, giant lymph node hyperplasia, substernal goiter, neuroendocrine carcinoma, lymphohematopoietic system tumors, and mesothelioma, accounting for 28.6%, 27.4%, 14.3%, 3.6%, 11.9%, 9.5%, and 4.8%, respectively. Mesenchymal tumors included peripheral nerve sheath tumors, vascular tumors, adipogenic tumors, solitary fibrous tumors, and synovial sarcoma, accounting for 54.2%, 20.8%, 12.5%, 8.3%, and 4.2%, respectively. The above tumors had diverse imaging manifestations and specific imaging features. Mature fat were found in 3 cases of liposarcoma; Calcification was observed in 2 cases of thyroid nodules and 7 cases of giant lymph node hyperplasia; Enhanced scanning showed significant enhancement in 2 cases of solitary fibrous tumors, 3 cases of thyroid nodules, and 11 cases of giant lymph node hyperplasia; Mediastinal large lymph nodes was observed in 6 cases of lymphoma and 3 cases of mesothelioma; High invasiveness was observed in 4 cases of mesothelioma and 9 cases of neuroendocrine carcinoma. Conclusion: Mediastinal tumors have low incidence rate and rich histological types, and their imaging manifestations are diverse. Preoperative differential diagnosis can be made according to their specific imaging characteristics.

Treatment at relapse for synovial sarcoma of children and adolescents: A multi-institutional European retrospective analysis.

PURPOSE: Though the prognosis for pediatric patients with localised synovial sarcoma (SS) is generally good, the chances of being cured after relapse are limited. This study describes a retrospective multi-institutional series of relapsing SS patients treated at six selected European referral centers for pediatric sarcoma. PATIENTS AND METHODS: The study included 41 patients <21 years with relapsing SS, treated between 2002 and 2022. The analysis included patient's characteristics at first diagnosis, first-line treatments, clinical findings at relapse, and second-line treatment modalities. RESULTS: The first relapse occurred within 3-132 months (median 18 months) after first diagnosis and was local in 34%, metastatic in 54%, and both in 12%. Treatment at first relapse included surgery in 56% of cases, radiotherapy in 34%, and systemic therapy in 88%. In all, 36 patients received second-line medical treatment, that was chemotherapy in 32 cases (with 10 different regimens) and targeted therapy in four. No patient was included in an early-phase clinical trial as second-line therapy-line therapy. Overall response rate was 42%. Median event-free survival (EFS) was 12 months, postrelapse 5-year EFS was 15.8%. Median overall survival (OS) was 30 months, postrelapse 5-year OS was 22.2%. At the Cox's multivariable regression analysis, OS was significantly associated with time and type of relapse. CONCLUSION: Pediatric patients with relapsed SS have a poor prognosis and generally receive an individualized approach, due to the lack of a uniform standardized approach. New comprehensive strategies are needed to improve the knowledge on the biologic landscape of SS and develop tailored prospective clinical trials.

[Primary cardiac synovial sarcoma: a clinicopathological analysis of five cases].

Objective: To assess the clinicopathological features, immunophenotype, molecular characteristics and differential diagnosis of primary cardiac synovial sarcoma (PCSS). Methods: Five cases of PCSS were collected at Guangdong Provincial People's Hospital from 2008 to 2023, and their clinicopathological features were summarized. Immunohistochemical staining, fluorescence in-situ hybridization (FISH) and next-generation sequencing (NGS) were performed, and relevant literatures were reviewed. Results: The cases were found in four males and one female, ranging in ages from 16 to 51 years (median 30 years). Two cases were located in the pericardium, two in the right ventricle, and one in the left ventricle. Follow-up data were available in four cases. All the four patients died of disease at 3, 7, 13 and 26 months, respectively, after diagnosis. The tumor maximum diameter ranged from 6.0 to 14.0 cm in (mean 10.0 cm). Microscopically, three cases were monophasic and two cases were biphasic. Immunohistochemically, all cases were immunoreactive for EMA, vimentin, bcl-2 and CD56. The tumor cells were variably positive for pan-cytokeratin, SS18-SSX, SOX2, TLE1, CD99, synaptophysin, calretinin and calponin. FISH showed the presence of SS18 rearrangement in all the cases. NGS detected SS18-SSX gene fusion in three cases (SS18-SSX1 in one and SS18-SSX2 in two). Conclusions: PCSS is an exceedingly rare neoplasm, and should be distinguished from other various malignant epithelial and mesenchymal tumors. The clinical history, histopathological and immunohistochemical features, and molecular findings are all essential to the definitive diagnosis of PCSS.

Synovial sarcoma of the viscera (lung and jejunum): a case report.

We report the case of a woman nearing 70 years old who was admitted to the hospital with a complaint of "epigastric distension for 1 month". Her main signs and symptoms were progressive abdominal distension and occasional abdominal pain. Computed tomography suggested an abdominal mass. She had a surgical history of synovial sarcoma (SS) of the lungs. After admission, she was diagnosed with jejunal SS following a puncture biopsy and laparoscopic surgery. This disease usually occurs in the soft tissues of the limbs, and it is extremely rare for SS to originate in the jejunum. The morphologic heterogeneity of SS overlaps with other tumors and makes the diagnosis particularly difficult. Imaging studies usually lack specificity; however, measuring multiple immunohistochemical markers can greatly assist in the diagnosis and differential diagnosis of SS. This case not only enriches our understanding of SS and describes a rare site of origin, but also emphasizes the importance and challenges of achieving an accurate diagnosis. Immunohistochemical and molecular biological testing have important roles in the definitive diagnosis, highlighting the need for precise and innovative diagnostic and therapeutic approaches in SS.

[Renal synovialosarcoma: What about pyelic cytology to make a diagnosis?] / Synovialosarcome primitif du rein : si tout était déjà dans les urines pyéliques ?

Synovialosarcoma is a malignant mesenchymal tumor of young adults that occurs in the deep soft tissues, particularly around large joints. When it occurs in more unusual sites, it could present a significant diagnostic challenge. In this case, a 19-year-old girl was treated for a pyloric mass. A pyelic urine cytology performed simultaneously with a pyloric biopsy proved to be a significant element of orientation and perfectly concordant with the histopathological aspect of the pyelic mass after nephrectomy. We report here the first case of renal synovialosarcoma documented in pyelic urine.

Ultrastructural differences between synovial sarcoma and solitary fibrous tumor: comparative study in adult patients from the National Cancer Institute of Mexico.

Synovial sarcoma (SS) and solitary fibrous tumor (SFT) are entities with considerable morphological and immunohistochemical similarities that sometimes show a non-confirmatory profile (TLE1 negative, CD34 and focal or negative STAT6 and lack of specific fusion IHC markers), in which the utility ultrastructure is unknown. A cross-sectional, retrospective, analytical, nonexperimental study was carried out by the Department of Pathology of the National Cancer Institute of Mexico (INCan) e from January 1, 2009 to December 31, 2018. With 17 SFT cases with diffuse or focal CD34 and STAT6 positivity and 18 cases of SS with positive FISH molecular test t(X:18) breakapart were studied by electron microscopy of fresh glutaraldehyde fixed or paraffin-embedded tissue. The ultrastructural findings with a significant difference present in the SS were tandem tight junctions, desmosomes and abundance of dilated rough endoplasmic reticulum (RER) cisternae (p < 0.001, 0.003, and 0.001, respectively); while in the (SFT) the presence of abundant glycogen, basal lamina, long and slender cytoplasmic processes, pinocytic vesicles, hemidesmosomes, and/or dense plaques, collagen skein, and microvilli-like buds (p = 0.028, 0.005, and <0.001 for the last five). We then infer that the five distinctive markers of the SFT are the collagen skeins intermingled with cellular processes in a shape of "squid can," and the pinocytic vesicles as they were not observed in any case of SS. Conversely, tandem junctions were not found in any SFT case. Although the presence of multivesicular buds in the SFT was not significant, it had not been previously described.

[Two Cases of Retroperitoneal Synovial Sarcoma].

We experienced two cases of renal primary synovial sarcoma. Case 1: A 29-year-old man underwent laparoscopic radical nephrectomy and was originally diagnosed with renal cell carcinoma. Case 2: A 25-year-old man was treated by open radical nephrectomy since radiographical findings indicated tumor invasion to the ureter causing hydronephrosis. Both cases were pathologically diagnosed as renal synovial sarcomas, and were followed using computed tomography. Recurrence was observed within a year in both cases.

Biphasic synovial sarcoma with epithelial predominance reminiscent of adenocarcinoma: a diagnostic challenge.

Synovial sarcoma (SS) is a rare tumour of unknown origin with peak incidence between 10 and 35 years. Although it arises in juxta-articular location, SS is a misnomer and has no true relationship with synovium. In this case report, we present an elderly female patient with a long-standing history of thigh mass which was initially misdiagnosed as metastatic adenocarcinoma deposits on fine needle aspiration cytology, and again misdiagnosed as malignant adnexal skin tumour on core needle biopsy and referred for further management. Here, we discuss the challenges faced in the diagnosis of SS on a small biopsy and ways to differentiate it from other morphological mimickers. Therefore, we aim to increase the awareness of soft tissue tumours that microscopically appear like adenocarcinoma, which is a potential diagnostic pitfall. We also highlight the importance of morphological diagnosis and the utility of molecular testing using fluorescence in situ hybridisation, to arrive at the correct diagnosis of SS.

Utility of Immunohistochemistry With Antibodies to SS18-SSX Chimeric Proteins and C-Terminus of SSX Protein for Synovial Sarcoma Differential Diagnosis.

Synovial sarcoma is a relatively common soft tissue tumor characterized by highly specific t(X;18)(p11;q11) translocation resulting in the fusion of SS18 with members of SSX gene family. Typically, detection of SS18 locus rearrangement by fluorescence in situ hybridization or SS18 :: SSX fusion transcripts confirms the diagnosis. More recently, immunohistochemistry (IHC) for SS18-SSX chimeric protein (E9X9V) and C-terminus of SSX (E5A2C) showed high specificity and sensitivity for synovial sarcoma. This study screened a cohort of >1000 soft tissue and melanocytic tumors using IHC and E9X9V and E5A2C antibodies. Three percent (6/212) of synovial sarcomas were either negative for SS18-SSX or had scattered positive tumor cells (n=1). In these cases, targeted RNA next-generation sequencing detected variants of SS18 :: SSX chimeric transcripts. DNA methylation profiles of 2 such tumors matched with synovial sarcoma. A few nonsynovial sarcoma tumors (n=6) revealed either focal SS18-SSX positivity (n=1) or scattered positive tumor cells. However, targeted RNA next-generation sequencing failed to detect SS18 :: SSX transcripts in these cases. The nature of this immunopositivity remains elusive and may require single cell sequencing studies. All synovial sarcomas showed positive SSX IHC. However, a mosaic staining pattern or focal loss of expression was noticed in a few cases. Strong and diffuse SSX immunoreactivity was also seen in epithelioid sclerosing osteosarcoma harboring EWSR1 :: SSX1 fusion, while several sarcomas and melanocytic tumors including cellular blue nevus (5/7, 71%) revealed focal to diffuse, mostly weak to intermediate SSX staining. The SS18-SSX and SSX IHC is a useful tool for synovial sarcoma differential diagnosis, but unusual immunophenotype should trigger molecular genetic testing.

Cardiogenic and obstructive shock: primary laryngeal synovial sarcoma with cardiac metastasis.

A man in his 20s with a history of laryngeal synovial sarcoma presented with dyspnoea. Imaging revealed a large right ventricular (RV) mass, which was resected, and histological analysis indicated synovial sarcoma recurrence. Within 1 month of RV mass resection, the tumour progressed with paratracheal metastasis. The lumen was nearly obliterated, and right ventricular outflow tract (RVOT) obstruction led to rapid deterioration with mixed cardiogenic and obstructive shock. We present a rare case of primary laryngeal synovial sarcoma metastasising to the heart.

Primary pulmonary synovial sarcoma with delayed diagnosis in a 69-year-old man: A case report.

RATIONALE: Primary pulmonary synovial sarcoma is a rare malignant pulmonary tumor accompanied by calcifications in approximately 15% of cases. These calcifications usually have a fine, stippled appearance; coarse shapes have seldom been reported. Moreover, the presence of coarse calcifications often suggests benign tumors, which vastly differ in treatment. We present a rare case of primary pulmonary sarcoma with coarse intratumoral calcifications, the diagnosis of which was delayed because of its radiologic appearance. PATIENT CONCERNS: A computed tomography (CT) scan of a 69-year-old man with right upper quadrant (RUQ) pain revealed an incidental mass at the base of the right lower lobe, the margin of which was not well described with respect to the liver, and intratumoral coarse calcification was noted. Initially, the lesion was believed to be hepatic, and magnetic resonance imaging (MRI) was performed. Based on its imaging features, the mass was thought to be a pulmonary lesion, and a preliminary diagnosis of a benign lesion, such as a hamartoma or granuloma, was made. Four months after the initial CT scan, the patient's RUQ pain had aggravated; however, no change in the mass was observed on follow-up CT. DIAGNOSIS: The final diagnosis was primary pulmonary sarcoma, proven by surgical biopsy. INTERVENTIONS: Wedge resection of the right lower lobe was performed, and the patient received adjuvant chemotherapy. OUTCOMES: The patient's RUQ pain improved, and no recurrence or metastasis has been reported to date. LESSONS: This case describes a rare presentation of a primary pulmonary synovial sarcoma with coarse intratumoral calcifications and the MRI features of the lesion. Intratumoral coarse calcifications often suggest benign lesions, such as hamartomas or post-inflammatory granulomas; however, as malignant lesions cannot be completely excluded, other radiologic and clinical features should be considered carefully. Focal areas of enhancement and eccentric calcification distribution might suggest malignant lesions such as primary pulmonary synovial sarcoma. Furthermore, despite not being used routinely, MRI scans might be helpful because advanced MRI techniques, such as diffusion-weighted imaging, can help distinguish malignant lesions from benign lesions. If the clinical course of a patient suggests malignancy, a more aggressive biopsy strategy should be considered.

Successful reconstruction using a buccal fat pad flap in misdiagnosed buccinators intramuscular synovial sarcoma: A case report.

INTRODUCTION: Synovial sarcoma (SS) is a subtype of soft tissue sarcoma that primarily usually occurs in the lower extremities but rarely arises in the head and neck areas, including the oral cavity. Due to its variable presentation and similarity to benign masses in terms of age at onset, growth rate, and favorable outcomes, SS is often misdiagnosed as a benign tumor. However, it is a malignant tumor. PATIENT CONCERNS: We report the case of intramuscular SS in the oral cavity. Initially, the lesion was clinically suspected as a benign mass but was ultimately confirmed as malignant SS. DIAGNOSIS: Although histopathological examination is the first step in diagnosing SS, molecular testing to confirm the presence of SYT-SSX fusion can provide a definitive diagnosis when the histopathology is inconclusive. In this patient as well, the postoperative pathological report confirmed the diagnosis of biphasic SS, and molecular testing revealed positive SYT/SSX fusion. THERAPEUTICS INTERVENTIONS: Following the recommendation of multidisciplinary care system, a wide excision was performed including the buccinators muscle, and reconstruction was performed using a buccal fat pad flap to prevent cheek depression. OUTCOMES: On the final pathologic report, SS was removed margin-free, and there were no metastatic lymph nodes. No evidence of cheek dimpling was observed, and follow-up neck CT showed no significant changes in the lymph nodes. As a result of observation up to several months after surgery, there were no functional and aesthetic complications. CONCLUSIONS: We report a successful case of intramuscular SS resection, initially misdiagnosed as a benign mass, using a buccal fat pad flap. We also highlight the importance of correctly diagnosing SS, especially in the craniofacial region where it can be mistaken for benign masses.

Primary synovial sarcoma and acinar adenocarcinoma of prostate rarely occur simultaneously: A case report.

RATIONALE: Primary synovial sarcoma of the prostate is an extremely rare mesenchymal malignant soft tissue tumor with unique morphological features. Synovial sarcoma often occurs in the pararticular tissues of limbs in young people, but rarely occurs in prostate. Because it is very rare, it is easily misdiagnosed as benign prostatic hyperplasia or prostate cancer clinically. A case of synchronous acinar adenocarcinoma of the prostate has not been reported. In this article, we report a unique case of primary prostatic synovial sarcoma with acinar adenocarcinoma. PATIENT CONCERNS: A 58-year-old male patient was found to have a prostate mass during physical examination. Prostate ultrasound examination showed an increase in prostate volume of 5.2 × 3.3 × 3.3 cm, mixed echo mass can be seen on the left side of the prostate, with a size of approximately 4.9 × 4.3 cm, left seminal vesicle compressed. DIAGNOSES: Prostatic synovial sarcoma (biphasic type) combined with prostatic acinar adenocarcinoma (Gleason 3 + 3). INTERVENTION: The patient received radical prostatectomy, followed by adjuvant chemotherapy and radiotherapy. OUTCOME: After 2 months of follow-up, at the time of writing this article, the patient received a comprehensive treatment plan of adjuvant chemotherapy and radiotherapy for 2 months, and no recurrence or metastasis was found. LESSONS: Primary prostatic synovial sarcoma (biphasic type) combined with prostatic acinar adenocarcinoma is a very unique and rare case, and effective treatment guidelines are not yet clear, posing new challenges to clinical treatment. Making full use of pathological and imaging examinations, early diagnosis and radical surgery combined with multidisciplinary treatment seem to be still a positive method.

Indolent Multinodular Synovial Sarcoma of Peripheral Nerves Mimicking Schwannoma: A Case Report and Literature Review.

BACKGROUND/AIM: Most cases of synovial sarcoma (SS) are aggressive and large-sized; only few show indolent behavior, having a small size. Nerves are rare sites of SS occurrence. An atypical case of SS can lead to its misdiagnosis as a benign tumor and delay its treatment. CASE REPORT: Here, we report a case of primary SS of indolent multinodular synovial sarcoma of peripheral nerves. Considering the clinical and imaging findings at the first visit, we suspected a benign tumor and continued careful follow-up. Three years later, marginal resection was performed and SS was suspected. We then performed an additional wide resection using a free flap. Histopathologically, the proximal tumor showed a diffuse proliferation of spindle cells without pleomorphism, whereas the distal tumor showed a similar histology with more hypercellularity. Additional wide-resection specimens showed remnant tumors derived from the peripheral nerve. Immunohistochemistry (IHC) showed positive staining for SS18:SSX and SSX in both tumors and fluorescence in situ hybridization showed positive staining for the SS18 split in both tumors. Finally, SS of the peripheral nerve was diagnosed. Owing to FNCLCC grade 2 tumor and tumor size, adjuvant chemotherapy was not performed. CONCLUSION: In cases of SS or other sarcomas with atypical clinical courses, with imaging findings mimicking benign tumors, we recommend marginal resection along with pathological examination for correct diagnosis.

[Oncological outcomes and prognostic factors in surgically treated patients with synovial sarcoma]. / Resultados oncológicos y factores pronósticos en pacientes con sarcoma sinovial tratados quirúrgicamente.

INTRODUCTION: Synovial sarcoma is an unusual tumor with an incidence of 1-3 cases per million. It is more frequent in teenagers and young adults under 30. It develops anywhere, but the extremities are the most frequent place of appearance (80% extremities, 20% other locations: 8% trunk, 7% retroperitoneal/abdominal, 5% head and neck). Oncological results are different depending on the study. Survival rate free of local recurrence, survival rate free of events and global survival rate vary upon published studies. The same happens with the disease's prognostic factors. METHODS: The objective was to analyze a group of 43 patients with diagnosis of synovial sarcoma of the extremities treated surgically and determine (1) global survival rate, (2) survival rate free of events, (3) local recurrence rate and (4) oncological risk factors. RESULTS: The global survival rate at 2 years was 90% (IC95%: 76 - 96%) and 67% (IC95%: 49-80%) at 5 years. The survival rate free of events at 2 years was 68% (IC95% 51-80%) and 48% (IC95% 32-52%) at 5 years. The recurrence rate at 2 years was 9% (IC95% 3-25%) and 25% (IC95% 13-46%) at 5 years. The histological grade and metastatic presence were bad prognostic factors. DISCUSSION: We can conclude that our oncological results are in line with those published in previous series and that there were two factors associated with poor prognosis.

Introducción: El sarcoma sinovial es un tumor raro (incidencia de 1-3 casos por millón). Es más frecuente en adolescentes y adultos menores de 30 años. Se desarrolla en cualquier parte del cuerpo, siendo, las extremidades el lugar más frecuente de aparición (80% extremidades y 20% otras localizaciones: 8% tronco, retroperitoneal/ abdominal 7%, cabeza y cuello 5%). Los resultados oncológicos de los pacientes con sarcoma sinovial son disímiles. La tasa de supervivencia libre de recurrencia local, la supervivencia libre de eventos y la supervivencia global varían entre las series publicadas. Lo mismo sucede con los factores pronósticos de la enfermedad. Métodos: El objetivo fue analizar un grupo de 43 pacientes con diagnóstico de sarcoma sinovial de las extremidades tratados quirúrgicamente, y determinar (1) tasa de supervivencia global, (2) tasa de supervivencia libre de eventos, (3) tasa de recurrencia local y (4) factores de riesgo oncológicos. Resultados: La supervivencia global a los 2 años fue 90% (IC95%: 76-96%), y 67% (IC95%: 49-80%) a los 5 años. La supervivencia libre de eventos a los 2 años fue 68% (IC95% 51-80%) y a los 5 años 48% (IC95% 32-52%). El riesgo de recurrencia local a 2 años fue 9% (IC95% 3-25%) y a los 5 años 25% (IC95% 13-46%). Los factores de mal pronóstico oncológico fueron el grado histológico y la presencia de metástasis. Discusión: Podemos concluir que nuestros resultados oncológicos se asemejan a las series publicadas y que en nuestra serie hubo dos factores de mal pronóstico.

Synovial sarcoma with ossification and calcification with SS18 immunochemical expression and rearrangement by fluorescent in situ hybridization.

Synovial sarcoma is a soft tissue tumor of uncertain origin. Generally, it is a monophasic spindle cell neoplasm that can have glandular-like structures. Ossification and presence of calcification is a rare phenomenon with only a few reported cases. We present the case of a young male with a synovial sarcoma of the right foot. Histology revealed prominent deposits of tumoral osteoid and coarse calcifications. The diagnosis was confirmed by the expression of SS18 by immunohistochemistry and the demonstration of the rearrangement of the SS18 gene by fluorescent in situ hybridization. We reviewed the literature for synovial sarcoma with prominent ossification or calcification, and to the best of our knowledge, this is the first case with expression of SS18 by immunohistochemistry. The main differential diagnoses are osteosarcoma (both primary of bone and extraosseous) and sclerosing epithelioid fibrosarcoma.

Synovial sarcoma of female urethra: a case report and review of the literature.

Synovial sarcoma (SS) is a rare malignant soft tissue sarcoma that originates from primitive mesenchymal cells with epithelial differentiation potential. It is most commonly found in the limbs and trunk. In the urinary system, it is mostly found in the kidneys. However, synovial sarcomas originating from the external urethra are extremely rare. Only one case of synovial sarcoma arising from the vulvar urethral orifice has been reported previously, and we report a second case of synovial sarcoma of the urethral orifice. In addition, a total of 16 vulvar synovial sarcomas were identified and the literature are analyzed in this report reviews from 1966 to the present.