Successful robotic resection of a primary cardiac synovial sarcoma.
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ABSTRACT:
SUBMITTER: Akhmerov A
PROVIDER: S-EPMC8298838 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Synovial sarcoma is the most common pediatric non-rhabdomyosarcoma soft tissue sarcoma and accounts for about 8-10% of all soft tissue sarcoma in childhood and adolescence. The presence of a chromosomal translocation-associated SS18-SSX-fusion gene is causally linked to development of primary synovial sarcoma. Metastases occur in approximately 50-70% of synovial sarcoma cases with yet unknown mechanisms, which led to about 70-80% mortality rate in five years. To explore the possibilities to investigate metastatic mechanisms of synovial sarcoma, we carried out the first genome-wide search for potential genetic biomarkers and drivers associated with metastasis by comparative mutational profiling of 18 synovial sarcoma samples isolated from four patients carrying the primary tumors and another four patients carrying the metastatic tumors through whole exome sequencing. Selected from the candidates yielded from this effort, we examined the effect of the multiple missense mutations of ADAM17, which were identified solely in metastatic synovial sarcoma. The mutant alleles as well as the wild-type control were expressed in the mammalian cells harboring the SS18-SSX1 fusion gene. The ADAM17-P729H mutation was shown to enhance cell migration, a phenotype associated with metastasis. Therefore, like ADAM17-P729H, other mutations we identified solely in metastatic synovial sarcoma may also have the potential to serve as an entry point for unraveling the metastatic mechanisms of synovial sarcoma.
| S-EPMC6305143 | biostudies-literature
Project description:Primary cardiac sarcomas are very aggressive, being a challenge to cardio-oncology specialty. Surgical planning and innovative techniques have enhanced the possibility of resection. We have described a case of recurrent primary left atrium angiosarcoma, successfully resected with a modified partial autotransplantation technique, planned using a 3-dimensional model created from computed tomography. (Level of Difficulty: Intermediate.).
| S-EPMC8571791 | biostudies-literature
Project description:BackgroundCardiac synovial sarcoma (CSS) is an extremely rare malignant tumour with a poor prognosis. We report the case of a 31-year-old woman who presented with a CSS in the right atrium and was initially misdiagnosed with a tuberculoma. The aim of this article is to focus on the importance of having broad differential diagnoses including rare entities.Case summaryA 31-year-old White woman, with a close contact with a relative having pulmonary tuberculosis, presented to the emergency unit with severe dyspnoea. Chest radiography and echocardiography showed a large pericardial effusion with a mass in the right atrium. Pericardiocentesis removed bloody exudative fluid with adenosine desaminase at 17 UI/L and no malignant cells in the cytological study. Cardiac magnetic resonance revealed a tuberculoma of the right atrium. Intraoperatively, the mass was only biopsied because of the local invasion. Histological study concluded to a CSS. The patient died 3 days later.DiscussionThis case highlights the importance of having broad differential diagnoses including rare entities. Histology was the key investigation for the diagnosis of CSS which has no clinical nor laboratory or imaging pathognomonic signs.
| S-EPMC8186913 | biostudies-literature
Project description:A 48-year old man presented with chest pain and haemoptysis. Chest computed tomography showed a 60-mm mass in the left upper lobe of the lung, adjacent to the distal aortic arch. Bronchoscopic cytology revealed the presence of malignant cells and, in the absence of evidence of distant metastasis, a thoracotomy was performed. Although the tumour was firmly adherent to the distal aortic arch, under temporary bypass from the left subclavian artery to the descending aorta, it was successfully resected en bloc with the section of the aorta attached to it. The tumour was diagnosed as a primary synovial sarcoma of the lung on the basis of histopathological findings and fluorescent chromogenic in situ hybridization, showing SS18 gene rearrangement.
| S-EPMC3745145 | biostudies-literature
Project description:We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35-year-old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill-defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA-sequencing, which revealed a novel SS18-NEDD4 gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break-apart probes for both genes. This case illustrates the utility of targeted RNA-sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical SS18-SSX fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the SS18L1-SSX1 fusion.
| S-EPMC7086378 | biostudies-literature
Project description:Synovial sarcoma generally arises in the deep soft tissue, although it has been described at virtually every anatomic site except in the eyeball. We report the case of a 48-year-old woman who had a history of retinal detachment surgery and who had undergone vitrectomy and the insertion of a solid silicon explant 24 years previously. She reported a visual field defect. Funduscopy and MRI revealed a tumour just behind the iris in the left eyeball, and enucleation was performed. Microscopic examination of the tumour revealed uniform spindle cells in a fascicular arrangement with frequent mitotic figures. Immunohistochemistry showed that the tumour was positive for TLE1 and epithelial membrane antigen and fluorescent in situ hybridisation revealed that the tumour had a rearrangement of the SYT gene. Reverse transcription (RT)-PCR confirmed the presence of a SYT-SSX2 fusion transcript. On the basis of these histomorphological and molecular features, the diagnosis of poorly differentiated synovial sarcoma was rendered.
| S-EPMC4533628 | biostudies-other
Project description:Synovial sarcoma (SS) is an aggressive soft tissue sarcoma (STS) that typically occurs in the extremities near a joint. Metastatic disease is common and usually occurs in the lungs and lymph nodes. Surgical management is the mainstay of treatment with chemotherapy and radiation typically used as adjuvant treatment. Although chemotherapy has a positive impact on survival, the prognosis is poor if metastatic disease occurs. The biology of sarcoma invasion and metastasis remain poorly understood. Chromosomal translocation with fusion of the SYT and SSX genes has been described and is currently used as a diagnostic marker, although the full impact of the fusion is unknown. Multiple biomarkers have been found to be associated with SS and are currently under investigation regarding their pathways and mechanisms of action. Further research is needed in order to develop better diagnostic screening tools and understanding of tumor behavior. Development of targeted therapies that reduce metastatic events in SS, would dramatically improve patient prognosis.
| S-EPMC5297148 | biostudies-literature
Project description:Intimal sarcomas are a very rare medical entity and usually arise from the pulmonary artery or the thoracic aorta. Sarcomas should be considered in the differential diagnosis in patients with suspected mitral valve disease. Echocardiography should be performed as early as possible to establish a prompt diagnosis and management.
| S-EPMC5538049 | biostudies-other
Project description:In synovial sarcomas alterations in the cyclin D1-CDK4/6-Rb axis have been described. Also, ?-catenin, a cyclin D1 regulator, is often overexpressed. Additionally, studies have shown that the t(X;18) translocation influences tumor behavior partly through cyclin D1 activation. We investigated how alterations in the cyclin D1-CDK4/6-Rb axis impact prognosis and studied effects of targeting this axis with the CDK4/6 inhibitor palbociclib.Synovial sarcoma samples (n = 43) were immunohistochemically stained for ?-catenin, cyclin D1, p16, p21, p27, Rb, and phospho-Rb. Fluorescent in situ hybridization (FISH) was performed to detect CCND1 amplification or translocation. In 4 synovial sarcoma cell lines sensitivity to palbociclib was investigated using cell viability assays, and effects on the sensitive cell lines were evaluated on protein level and by cell cycle arrest.Expression of nuclear phospho-Rb and nuclear ?-catenin in the patient samples was associated with poor survival. FISH showed a sporadic translocation of CCND1 in a subset of tumors. An 8-fold CCND1 amplification was found in 1 cell line, but not in the patient samples investigated. Palbociclib effectively inhibited Rb-phosphorylation in 3 cell lines, resulting in an induction of a G1 arrest and proliferation block.In this series nuclear phospho-Rb and nuclear ?-catenin expression were negative prognostic factors. In vitro data suggest that palbociclib may be a potential treatment for a subset of synovial sarcoma patients. Whether this effect can be enhanced by combination treatment deserves further preclinical investigations.
| S-EPMC4972869 | biostudies-other
Project description:Primary pulmonary synovial sarcoma is a rare pulmonary malignant tumor originated from primitive mesenchymal, which has short overall survival and poor prognosis. Related case reports are lacked at home and abroad. In recent years, the development of targeted therapy has brought remarkable benefits to cancer patients. Apatinib (Hengrui Pharmaceutical Co. Ltd, Jiangsu, People's Republic of China) is a small molecule vascular endothelial growth factor receptor 2 (VEGFR-2) inhibitor, which selectively inhibits VEGFR-2 and blocks the VEGF signal pathway, then strongly inhibiting the tumor angiogenesis. Apatinib has shown favorable therapeutic effect and acceptable toxicity on various tumors. Here we report a case of primary pulmonary synovial sarcoma with postoperative multiple metastases treated with apatinib, in order to provide a new considerable treatment.?.
| S-EPMC6247001 | biostudies-literature