scholarly journals Underlying Ossification Phenotype in a Murine Model of Metastatic Synovial Sarcoma

2020 ◽  
Vol 21 (7) ◽  
pp. 2636
Author(s):  
Matthew Kirkham ◽  
Austen Kalivas ◽  
Kaniz Fatema ◽  
Sarah Luelling ◽  
Brooke H. Dubansky ◽  
...  
Keyword(s):  
Young Adults ◽  
Mouse Model ◽  
Synovial Sarcoma ◽  
Soft Tissues ◽  
Bone Development ◽  
Survival Rates ◽  
Primary Tumors ◽  
Synovial Sarcomas ◽  
Worse Prognosis ◽  
Genetic Mouse Models

Synovial sarcoma, an uncommon cancer, typically affects young adults. Survival rates range from 36% to 76%, decreasing significantly when metastases are present. Synovial sarcomas form in soft tissues, often near bones, with about 10% demonstrating ossification in the tumor. The literature is inconclusive on whether the presence of ossification portends a worse prognosis. To this end, we analyzed our genetic mouse models of synovial sarcoma to determine the extent of ossification in the tumors and its relationship with morbidity. We noted higher ossification within our metastatic mouse model of synovial sarcoma. Not only did we observe ossification within the tumors at a frequency of 7%, but an even higher frequency, 72%, of bone reactivity was detected by radiography. An enrichment of bone development genes was associated with primary tumors, even in the absence of an ossification phenotype. In spite of the ossification being intricately linked with the metastatic model, the presence of ossification was not associated with a faster or worse morbidity in the mice. Our conclusion is that both metastasis and ossification are dependent on time, but that they are independent of one another.

Monophasic Synovial Sarcoma Arising in the Vulva: A Case Report and Review of the Literature

2008 ◽  
Vol 132 (4) ◽  
pp. 698-702
Author(s):  
Beverly E. White ◽  
Alan Kaplan ◽  
Dolores H. Lopez-Terrada ◽  
Jae Y. Ro ◽  
Robert S. Benjamin ◽  
...  
Keyword(s):  
Synovial Sarcoma ◽  
Soft Tissues ◽  
English Literature ◽  
Review Of The Literature ◽  
First Case ◽  
Additional Surgery ◽  
Synovial Sarcomas ◽  
The Right ◽  
Disease Free ◽  
Vulvar Mass

Abstract Synovial sarcomas most commonly arise in the soft tissue of the extremities. Less commonly, these tumors present in the head and neck, abdominal wall, and other sites. However, synovial sarcoma occurring in the vulvar area is extremely rare. Only 2 previous cases of biphasic synovial sarcoma of the vulva have been reported, but no case of vulvar monophasic synovial sarcoma has been described in the English literature. We report the third case of synovial sarcoma and apparently the first case of monophasic synovial sarcoma arising in soft tissues of the vulva. The patient was a 33-year-old woman who presented for evaluation of a painless vulvar mass. The tumor was located in the deep fibroadipose tissue of the right vulva (6.5 × 4.2 × 3.5 cm). The histology of the lesion was that of a monophasic synovial sarcoma with a hemangiopericytic vascular pattern. A subsequent molecular analysis revealed SYT-SSX2 gene fusion, which confirmed the diagnosis of synovial sarcoma. After an initial wide local excision, the patient developed a recurrence in the right groin and received chemotherapy and additional surgery. The patient is currently disease free, on adjuvant chemotherapy, and being followed up closely.

scholarly journals Synovial Sarcoma of the Extremities: A Literature Review

2021 ◽  
Vol 11 (16) ◽  
pp. 7407
Author(s):  
Cosmin Ioan Faur ◽  
Daniel Laurentiu Pop ◽  
Ahmed Abu Awwad ◽  
Carmen Lacramioara Zamfir ◽  
Roxana Folescu ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Synovial Sarcoma ◽  
Soft Tissues ◽  
Spindle Cell ◽  
Joint Capsule ◽  
Chromosome X ◽  
Secondary Tumor ◽  
Cell Components ◽  
Synovial Sarcomas ◽  
Synovial Tissues

Synovial sarcoma (SS) is a rare and highly malignant tumor and a type of soft tissue sarcoma (STS), for which survival has not improved significantly in recent years. Synovial sarcomas occur mostly in adolescents and young adults (15–35 years old), usually affecting the deep soft tissues near the large joints of the extremities, with males being at a slightly higher risk. Despite its name, synovial sarcoma is neither related to the synovial tissues that are a part of the joints, i.e., the synovium, nor does it express synovial markers; however, the periarticular synovial sarcomas can spread as a secondary tumor to the joint capsule. SS was initially described as a biphasic neoplasm comprising of both epithelial and uniform spindle cell components. Synovial sarcoma is characterized by the presence of the pathognomonic t (X; 18) (p11.2; q11.2) translocation, involving a fusion of the SS18 (formerly SYT) gene on chromosome 18 to one of the synovial sarcoma X (SSX) genes on chromosome X (usually SSX1 or SSX2), which is seen in more than 90% of SSs and results in the formation of SS18-SSX fusion oncogenes.

Postradiation Synovial Sarcoma of the Common Bile Duct: A Previously Unreported Anatomic Site

2018 ◽  
Vol 26 (5) ◽  
pp. 469-474
Author(s):  
Roberto Herrera-Goepfert
Keyword(s):  
Synovial Sarcoma ◽  
Digestive System ◽  
Soft Tissues ◽  
Biliary Tree ◽  
Anatomic Site ◽  
Abdominal Radiotherapy ◽  
Synovial Sarcomas ◽  
The Common ◽  
Extrahepatic Biliary Tree ◽  
Anatomic Region

Synovial sarcoma is a ubiquitous neoplasm predominantly affecting soft tissues of young adults of any gender; few cases have been described in the digestive system, mostly in the stomach. The (X;18)(p11.2; q11.2) translocation yields unique SS18-SSX fusion genes. Synovial sarcoma has been related to radiotherapy, but no synovial sarcoma has been associated with the digestive system. This article describes the case of a synovial sarcoma arising along the extrahepatic biliary tree, 10 years after the application of an abdominal radiotherapy schedule due to a retroperitoneal metastatic seminoma in a male who developed progressive obstructive jaundice. Ninety percent of the analyzed cells carried the SS18 gene with separation of sequences, thus denoting a translocation. There are only 8 post-radiotherapy synovial sarcomas that have been reported previously, and this is the first report of a radiotherapy-related synovial sarcoma arising from the extrahepatic biliary tree, and the second case described in this anatomic region.

scholarly journals MyoD-Cre driven alterations in K-Ras and p53 lead to a mouse model with histological and molecular characteristics of human rhabdomyosarcoma with direct translational applications

2021 ◽  
Author(s):  
Kengo Nakahata ◽  
Brian W. Simons ◽  
Enrico Pozzo ◽  
Ryan Shuck ◽  
Lyazat Kurenbekova ◽  
...  
Keyword(s):  
Mouse Model ◽  
Survival Rates ◽  
Metastatic Potential ◽  
Human Cell Line ◽  
Genetically Engineered ◽  
Treatment Modalities ◽  
Molecular Characteristics ◽  
Term Survival ◽  
Primary Tumors ◽  
Genetically Engineered Mouse Model

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, with overall long-term survival rates of about 65-70%. Thus, additional molecular insights and representative models are critical for further identifying and evaluating new treatment modalities. Using MyoD-Cre mediated introduction of mutant K-RasG12D and perturbations in p53 we have developed a novel genetically engineered mouse model (GEMM) for RMS. Specifically, we directly crossed mice expressing MyoD promoter-regulated Cre-recombinase with germline p53Flox or Lox-Stop-Lox (LSL) knock-in alleles expressing oncogenic p53R172H and/or K-RasG12D mutants. The anatomic sites of primary RMS development observed in these mice recapitulated human disease, with the most frequent sites of tumor growth seen in the head, neck, extremities, and abdomen. We have confirmed RMS histology and diagnosis through hematoxylin and eosin (H&E) staining, as well as positive immunohistochemistry (IHC) staining for desmin, myogenin, and phosphotungstic acid hematoxylin (PTAH). We established cell lines from several of the GEMM tumors with the ability to engraft and develop tumors in immunocompetent mice with similar histological and staining features as the primary tumors. Furthermore, injection of syngeneic RMS lines via tail vein had high metastatic potential to the lungs. Transcriptomic analyses of p53R172H/K-RasG12D GEMM-derived tumors showed evidence of high molecular homology with human RMS. Specifically, we noted alterations in gene ontologies including immune response, metabolism and mRNA processing. Finally, pre-clinical use of these murine RMS lines demonstrated similar therapeutic responsiveness to relevant chemotherapy and targeted therapies as human cell line models.

scholarly journals Primary Intraosseous Synovial Sarcoma with Molecular Confirmation: Expanding and Clarifying the Spectrum of This Rare Neoplasm

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Kelsey E. McHugh ◽  
John D. Reith ◽  
Nathan W. Mesko ◽  
Scott E. Kilpatrick
Keyword(s):  
Soft Tissue ◽  
Synovial Sarcoma ◽  
Soft Tissues ◽  
Case Reports ◽  
Bone Lesion ◽  
Metastatic Potential ◽  
Metatarsal Bones ◽  
Synovial Sarcomas ◽  
Primary Bone ◽  
The Right

Synovial sarcoma is a well-known malignant tumor usually originating within deep soft tissues of the lower extremities of adolescents and young adults. Rare radiologically confirmed examples of primary bone synovial sarcoma have been documented, generally in isolated case reports. Herein, we report two cases of primary intraosseous synovial sarcoma, with molecular confirmation, involving the left humerus of a 45-year-old female and the right fourth metatarsal bone in a 36-year-old male. Additionally, we clarify the spectrum of primary intraosseous synovial sarcoma by separately analyzing reported cases with radiographic confirmation of bone origin and molecular support for the diagnosis. There are clinicopathologic differences between those tumors with documented molecular confirmation and those lacking such confirmation, specifically regarding their anatomic distribution (p<0.0001). Regarding the radiology of our two cases, the humeral lesion appeared almost entirely intramedullary without soft tissue extension; the midfoot lesion demonstrated a destructive, metatarsal-centered bone lesion, initially thought clinically to represent primary bone osteosarcoma. The diagnoses of monophasic synovial sarcoma were rendered via core needle biopsies, with molecular FISH confirmation of SYT gene rearrangement. Clinical follow-up data was only available for the female patient with the primary humeral lesion, who underwent surgical resection, with no local recurrence or distant metastasis at 7 months postsurgery. To our knowledge, these are the first reported examples of molecularly confirmed, primary intraosseous synovial sarcomas of the humerus and metatarsal bones. Primary intraosseous synovial sarcomas with molecular confirmation differ clinically from those lacking it; however, the demographic features and metastatic potential appear similar to primary soft tissue synovial sarcoma.

scholarly journals Primary Renal Synovial Sarcoma

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Mehmet Gulum ◽  
Ercan Yeni ◽  
Murat Savas ◽  
Ilyas Ozardali ◽  
Ismail Ozdemir ◽  
...  
Keyword(s):  
Young Adults ◽  
Young Adult ◽  
Synovial Sarcoma ◽  
Surgical Resection ◽  
Radical Nephrectomy ◽  
English Literature ◽  
Adolescents And Young Adults ◽  
Renal Masses ◽  
Synovial Sarcomas

Synovial sarcomas are generally deep-seated tumors that most often occur in the proximity of large joints of adolescents and young adults. We describe two cases of primary renal synovial sarcoma that were treated successfully by radical nephrectomy. Synovial sarcoma originating from the kidney is extremely rare and the histogenesis is uncertain. Surgical resection and ifosfamide based chemotherapy are the mainstay for the management of renal synovial sarcoma. Fewer than 40 patients have been described in the English literature. Physicians should be aware of the possibility of malignancy in cystic renal masses and raise the suspicion of synovial sarcoma, especially when patients with renal masses are a young adult.

Predictors of Worse Prognosis in Young Adults Hospitalized with COVID-19 Pneumonia: A Multi-Center Italian Study (COVID-UNDER50)

2020 ◽  
Author(s):  
Martina Bonifazi ◽  
Federico Mei ◽  
Edlira Skrami ◽  
Lara Letizia Latini ◽  
Donatella Amico ◽  
...  
Keyword(s):  
Young Adults ◽  
Italian Study ◽  
Worse Prognosis

Imaging Features of Primary Tumors of the Hand

2020 ◽  
Vol 16 ◽  
Author(s):  
Filippo Boriani ◽  
Edoardo Raposio ◽  
Costantino Errani
Keyword(s):  
Soft Tissue ◽  
Soft Tissues ◽  
Epithelioid Sarcoma ◽  
Case Series ◽  
Malignant Neoplasm ◽  
Benign Tumors ◽  
Imaging Features ◽  
Primary Tumors ◽  
Therapeutic Decisions ◽  
Tumors Of The Hand

: Musculoskeletal tumors of the hand are a rare entity and are divided into skeletal and soft tissue tumors. Either category comprises benign and malignant or even intermediate tumors. Basic radiology allows an optimal resolution of bone and related soft tissue areas, ultrasound and more sophisticated radiologic tools such as scintigraphy, CT and MRI allow a more accurate evaluation of tumor extent. Enchondroma is the most common benign tumor affecting bone, whereas chondrosarcoma is the most commonly represented malignant neoplasm localized to hand bones. In the soft tissues ganglions are the most common benign tumors and epithelioid sarcoma is the most frequently represented malignant tumor targeting hand soft tissues. The knowledge regarding diagnostic and therapeutic management of these tumors is often deriving from small case series, retrospective studies or even case reports. Evidences from prospective studies or controlled trials are limited and for this lack of clear and supported evidences data from the medical literature on the topic are controversial, in terms of demographics, clinical presentation, diagnosis prognosis and therapy.The correct recognition of the specific subtype and extension of the tumor through first line and second line radiology is essential for the surgeon, in order to effectively direct the therapeutic decisions.

scholarly journals Efficacy of perioperative chemotherapy for synovial sarcoma: a retrospective analysis of a Nationwide database in Japan

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gang Xu ◽  
Hisaki Aiba ◽  
Norio Yamamoto ◽  
Katsuhiro Hayashi ◽  
Akihiko Takeuchi ◽  
...  
Keyword(s):  
Overall Survival ◽  
Synovial Sarcoma ◽  
Survival Rates ◽  
Surgical Margin ◽  
Oncologic Outcomes ◽  
Wide Resection ◽  
Perioperative Chemotherapy ◽  
Relapse Free Survival ◽  
Free Survival ◽  
Distant Relapse

Abstract Background Synovial sarcoma is an aggressive but chemosensitive soft-tissue tumor. We retrospectively analyzed the efficacy of perioperative chemotherapy for synovial sarcoma with data from the nationwide database, Bone and Soft Tissue Tumor Registry in Japan. Methods This study included 316 patients diagnosed with synovial sarcoma between 2006 and 2012. Oncologic outcomes were analyzed using a Cox-hazard regression model. Moreover, the effects of perioperative chemotherapy on outcomes were evaluated using a matched-pair analysis. The oncologic outcomes of patients who did or did not receive chemotherapy were compared (cx + and cx-). Results Multivariate analysis revealed significant correlations of age (over 40, hazard ratio [HR] = 0.61, p = 0.043), margin status (marginal resection, HR = 0.18, p < 0.001 and intralesional resection, HR = 0.30, p = 0.013 versus wide resection) with overall survival; surgical margin type (marginal resection, HR = 0.14, p = 0.001 and intralesional resection, HR = 0.09, p = 0.035 versus wide resection) with local recurrence; and postoperative local recurrence (HR = 0.30, p = 0.027) and surgical margin (marginal resection, HR = 0.31, p = 0.023 versus wide resection) with distant relapse-free survival. Before propensity score matching, perioperative chemotherapy was mainly administered for young patients and patients with deeper tumor locations, larger tumors, more advanced-stage disease, and trunk location. The 3-year overall survival, local control, and distant relapse-free survival rates were 79.8%/89.3% (HR = 0.64, p = 0.114), 89.6%/93.0% (HR = 0.37, p = 0.171) and 71.4%/84.5% (HR = 0.60, p = 0.089) in the cx+/cx- groups, respectively. After propensity score matching, 152 patients were selected such that the patient demographics were nearly identical in both groups. The 3-year overall survival, local control, and distant relapse-free survival rates were 71.5%/86.0% (HR = 0.48, p = 0.055), 92.5%/93.3% (HR = 0.51, p = 0.436) and 68.4%/83.9% (HR = 0.47, p = 0.046) in the cx+/cx- groups, respectively. Conclusion This large-sample study indicated that the margin status and postoperative disease control were associated directly or indirectly with improved oncologic outcomes. However, the efficacy of perioperative chemotherapy for survival outcomes in synovial sarcoma patients was not proven in this Japanese database analysis.

scholarly journals Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Xuewen Wu ◽  
Li Zhang ◽  
Yihui Li ◽  
Wenjuan Zhang ◽  
Jianjun Wang ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Inner Ear ◽  
Viral Vectors ◽  
Survival Rates ◽  
Semicircular Canals ◽  
Dependent Manner ◽  
Syndrome Type ◽  
Dose Dependent

AbstractMutations in voltage-gated potassium channel KCNE1 cause Jervell and Lange-Nielsen syndrome type 2 (JLNS2), resulting in congenital deafness and vestibular dysfunction. We conducted gene therapy by injecting viral vectors using the canalostomy approach in Kcne1−/− mice to treat both the hearing and vestibular symptoms. Results showed early treatment prevented collapse of the Reissner’s membrane and vestibular wall, retained the normal size of the semicircular canals, and prevented the degeneration of inner ear cells. In a dose-dependent manner, the treatment preserved auditory (16 out of 20 mice) and vestibular (20/20) functions in mice treated with the high-dosage for at least five months. In the low-dosage group, a subgroup of mice (13/20) showed improvements only in the vestibular functions. Results supported that highly efficient transduction is one of the key factors for achieving the efficacy and maintaining the long-term therapeutic effect. Secondary outcomes of treatment included improved birth and litter survival rates. Our results demonstrated that gene therapy via the canalostomy approach, which has been considered to be one of the more feasible delivery methods for human inner ear gene therapy, preserved auditory and vestibular functions in a dose-dependent manner in a mouse model of JLNS2.

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