Oropharyngeal Synovial Sarcoma: A Case Report

Forearm Mass in an Adolescent

Synovial sarcoma, a malignant mesenchymal neoplasm, occurs mostly near the joints of the extremities and occasionally outside the joint such as lung. We report a case of soft tissue sarcoma arising in the fallopian tube origin that showed characteristic pathological appearance of biphasic synovial sarcoma. Molecular analysis detected a fusion gene transcript of synovial sarcoma translocation (SYT) gene from chromosome 18 and synovial sarcoma X chromosome breakpoint 1 (SSX1) gene, which is believed to pathognomonic for synovial sarcoma of joint origin. Recurrent abdominal tumor, observed at 12 month after the initial surgery and following chemotherapy using doxorubicin, cisplatin and ifosfamide, partially responded to chemotherapy using paclitaxel and carboplatin and, then, optimal surgery was performed. This is the first report of a synovial sarcoma arising in the fallopian tube.

Soft tissue sarcoma and its histomorphological sub types is an important for both prognosis and treatment. It deserves an extensive research, as there are good published literature's on the incidence of soft tissue sarcoma in the western population, but there is paucity of data from Asia, particularly on the epidemiology specifically to Southern Asia. We analyzed the Data, collected from the surgical pathology files. This Retrospective study included all the diagnosed cases of soft tissue sarcoma, including gastrointestinal tumor presented during the 10-year period, from July 2008 to March 2019 (10 years, 9 months) and include all age groups. Cases were then characterized according to their histomorphological sub types, age, sex, and the site involved by the sarcoma. The cases where diagnosis was not confirmed like differential diagnosis are not considered and not included in this study. The data was analyzed in SPSS version 26. Total 305 diagnosed cases of soft tissue sarcoma, met our selection criteria. The result shows that the soft tissue sarcoma are increased on yearly basis with eminent male predilection. The most common presented soft tissue sarcoma is GIST, followed by synovial sarcoma, undifferentiated pleomorphic sarcoma, and high-grade sarcoma Nos, in order of preference. The high female predilection is noted for leiomyosarcoma and chondrosarcoma. Most of the soft tissue sarcoma are associated with adult age (25 to 64 year) with total number of n: 206 cases (67.5%) and the most common site is the lower limb. It is also observed that the least common incidence of soft tissue sarcoma is noted in the toddler age group (2-3 years).This study concluded that the risk of soft tissue sarcoma exist throughout the lifespan (infants to elderly age) and continuously increasing in numbers. The adult age group followed by elderly age and male predominance are at high risk. However, the frequency of rhabdomyosarcoma is commonly seen in childhood.

A synovial sarcoma (also known as malignant synovioma) is a rare form of cancer that usually occurs near the joints of the arm, neck, or leg. It is one of the soft tissue sarcomas. Primary cardiac neoplasms are rare. Most common site for synovial sarcoma is lower limb. Synovial sarcoma of the heart is extremely rare. Occurrence of synovial sarcoma at extra synovial site is very uncommon. It is two times common in right side heart than left side so left side synovial sarcoma is rarest of rare, only very limited cases are reported. Here, we report a case of primary synovial cell sarcoma of the left side of the heart in a 26-year-old female. She presented with dyspnea and weakness only. She was operated for left-sided mass covering mitral valve; further histo-pathology revealed the mass as synovial cell sarcoma. In Indian scenario, this type of rare case needs documentation.

50 Years Ago in CORR®: Synovial Sarcoma Kirk J. Anderson, MD and Orliss Wildermuth, MD CORR 1961;29:55-70

Primary synovial sarcoma of thyroid gland: A case report and review of literature.

Expression of the multidrug resistance gene MDR1 is reported to be an important determinant of the response to chemotherapy and survival in some cancers. We compared three methods for determining the intrinsic MDR1 expression in soft tissue sarcomas. We studied MDR1 gene expression in 39 samples from 33 cases of soft tissue sarcomas comprising 11 liposarcomas, nine malignant fibrous histiocytomas, six leiomyosarcomas, four malignant schwannomas, three fibrosarcomas, three synovial sarcomas, and three epithelioid sarcomas, and seven cases of benign soft tissue tumors in adult patients. To detect MDR1 mRNA, reverse transcriptase-polymerase chain reaction (RT-PCR) was performed in all samples. Furthermore, RNA dot-blot analysis with digoxigenin-labeled RNA probe and immunohistochemistry with JSB-1 and C-219 antibodies for P-glycoprotein were employed in 34 and 37 samples in soft tissue sarcomas, respectively. We compared these three detection techniques. Of the 39 specimens, 18 (46%) showed MDR1 PCR products. Liposarcomas (six of 11), malignant fibrous histiocytomas (six of nine), leiomyosarcomas (four of six), fibrosarcomas (two of three) revealed high or intermediate MDR1 expression at high frequency. No MDR1 expression was detectable in malignant schwannomas, synovial sarcomas, or epithelioid sarcomas. Of seven benign soft tissue tumors, one ganglioneuroma and one lipomatosis showed low levels of MDR1 expression. By RNA dot-blot analysis, MDR1 transcripts were detectable in 12 of 34 specimens (35%). Four samples were negative by dot blot despite positivity with RT-PCR. Concordance between MDR1 expression by RNA level with RT-PCR and dot blot and at the protein level with immunohistochemistry using C-219 was found in 16 (47%) of the 34 comparable specimens. Eight samples showed positive immunoreactivity for C-219 despite negative results in RT-PCR and dot-blot analysis. The intrinsic MDR1 expression in soft tissue sarcoma seemed to depend on certain tumor types, such as liposarcoma, malignant fibrous histiocytoma, leiomyosarcoma, and fibrosarcoma. For the evaluation of MDR1 expression, RT-PCR is useful because of its relative simplicity and sensitivity. However, the clinical significance of such low levels of MDR1 expression detected only by RT-PCR must be discussed within systematically treated patient groups.

The development of new technologies, the interpretation of amputations as therapeutic failures by society, and the high morbidity and mortality associated with external hemipelvectomies make these mutilating surgical procedures appear obsolete. Herein, we review the scientific literature on the topic and present two cases of high-grade ulcerated soft tissue sarcomas in the gluteal region which show exceptional behavior and different outcomes. We performed a literature review of the PubMed databases from 2014 to April 2024. Additionally, we present two cases of soft tissue sarcomas in an 18-year-old female patient and in a 71-year-old female patient, which were treated with extended external hemipelvectomies with anterior flap, in combination with an abdominoperineal amputation and a colostomy in one case. After 4 years of follow-up, case 1 is living a relatively normal life. She had an uncomplicated pregnancy and a cesarean section delivery. Case 2 underwent emergency surgery for intestinal perforation and sepsis. She died 2.5 months following the surgery. External hemipelvectomy for soft tissue sarcoma treatment is a demanding surgical procedure with purpose in selected cases after review by multidisciplinary committees and with informed patient consent. This should be similarly individualized and extended to other pathologies when possible.

BackgroundUncommon histopathological subtypes account for less than 5% cases of soft tissue sarcoma (STS) and unclassified STSs comprise another 16%, these are often chemotherapy-resistant, with a dismal outcome in unresectable/metastatic disease. Prospective studies on the use of pazopanib in this cohort of patients are lacking in the literature. Here, we describe the safety and efficacy of pazopanib in rare histologies of advanced STS.Materials and methodsWe conducted a retrospective study at two tertiary cancer centres in India, evaluating 33 cases of rare subtypes of STS, who received pazopanib as per institutional protocol between January 2013 and December 2019. Patients who received pazopanib for unresectable/metastatic disease were enrolled in this study for clinicopathologic features, treatment outcome and evaluation of prognostic factors.ResultsOut of 33 patients, there were seven cases of undifferentiated pleomorphic sarcoma, four cases each of myxofibrosarcoma, epithelioid sarcoma and malignant peripheral nerve sheath tumour, three cases each of haemangiopericytoma and spindle cell sarcoma, two cases of haemangioendothelioma and a case each of clear cell sarcoma, retroperitoneal sarcoma, angiosarcoma and pleomorphic rhabdomyosarcoma-adult type. The objective response rate was 27%. Most of the patients (67%) received pazopanib in second or subsequent lines of therapy. The majority (70%) were started at a lower dose of 400/600 mg and only 43% of these (10/23) could be escalated to a full dose of 800 mg based on tolerance. On univariate analysis, pazopanib’s starting dose didn’t predict progression-free survival (PFS)/overall survival (OS)/response rate. At a median duration of follow-up of 18.8 months (range 1.9–150.4 months), the median PFS and median OS were 10.3 months (95% confidence interval (CI): 5.9–14.8) and 17.8 months (95% CI: 10.7–29.3), respectively. 27% of the patients experienced grade ¾ toxicities, 12% required dose modification of pazopanib and 21% needed permanent discontinuation due to toxicity.ConclusionOur study shows that pazopanib is active in rare subtypes of STS.

Sarcomas are heterogeneous, and their treatment and prognosis are driven by the morphologic subtype and the clinical stage. Classic cytogenetics and fluorescence in situ hybridization (FISH) analysis play an important role in their diagnostic work up. Forty-six cases of soft-tissue sarcoma were reviewed that underwent karyotyping and simultaneous FISH analysis at initial diagnosis. They included 10 dedifferentiated liposarcomas, 10 myxoid liposarcomas, and 14 synovial sarcomas. Six tumors were investigated for EWSR1 rearrangement. Six high-grade miscellaneous sarcomas were also examined. The dedifferentiated liposarcoma had complex karyotypes and MDM2 amplification by FISH, and of these, 5 tumors with myxoid changes also had complex signals for DDIT3. All but 4 myxoid liposarcomas had complex karyotypes, in addition to the characteristic translocation. FISH analysis displayed DD1T3 rearrangement. All synovial sarcomas except 1 recurrence had a t(X;18) translocation by karyotyping and FISH. The EWSR1 rearrangement was present in all extraskeletal myxoid chondrosarcomas, angiomatoid fibrous histiocytoma, atypical Ewing sarcoma, and a clear-cell sarcoma, all of which had characteristic karyotypes. Seven high-grade sarcomas had no specific karyotype or rearrangements for DDIT3, SS18, and EWSR1 by FISH. There is good correlation between karyotyping and FISH. Complex FISH signals found in dedifferentiated liposarcomas may be related to an increased chromosome 12 copy number and ploidy. Karyotyping is an important baseline standard for the quality assurance of newly developed FISH probes. It also provides a global view of chromosomal changes and the opportunity to investigate the role of other genetic alterations and potential therapeutic targets.

Historically, an adequate surgical procedure has been the most effective means of treating the majority of primary musculoskeletal sarcomas, and amputation has figured prominently in the surgical armamentarium. 4, 7, 9, 19, 21, 29, 41 The recent evidence that certain chemotherapeutic agents may have significant anti-sarcoma activity 2, 15, 17, 38 and coincident technical advances in irradiation therapy, radiographic localization, and reconstructive surgery have fostered enthusiastic interest in extremity-saving treatments. Almost all such treatments emphasize limb salvage as an alternative to amputation and are usually performed under a protective cloak of adjunctive chemotherapy, irradiation or immunoactive agents. 20, 23, 24, 30, 37, 39 Since neither chemotherapy nor irradiation therapy alone has been shown to assure long-term local control of bulk disease, surgical intervention remains an essential step in the overall management of musculoskeletal sarcomas. 3, 9, 17, 18, 29 Questions concerning the magnitude and timing of the surgical procedure are as unanswered as those relating to the most appropriate use of the adjuncts themselves. Increasingly, the surgeon and his patient are confronted with a bewildering array of therapeutic options, the long-term outcomes of which are unknown. These relatively rare sarcomas increasingly are distributed among a variety of treatment protocols in which multiple parameters differ. This trend necessitates interinstitutional cooperation if sufficient numbers of patients are to be available for the timely evaluation of treatments in clinical use. Such cooperation and even effective interinstitutional communication are seriously hampered by the lack of uniform language, so that meaningful comparison of treatments is currently impossible. Prime factors include the lack of a consistent definition of the surgery performed and a serviceable surgical staging system encompassing bone and soft tissue. Standard terminology will assure that like and unlike treatments are appropriately compared. Although an effective staging system should serve all members of the multidisciplinary team, the biologic behavior of musculoskeletal sarcomas suggests that the most useful staging system will articulate with the surgical procedure.

An analysis of chromosome aberrations in human tumors was performed in 29 cases of soft tissue sarcoma. The tumor tissues were disaggregated with collagenase and the cells cultured for 2-3 days. Analyzable metaphases were obtained in 15 cases, 4 of which showed only normal karyotypes. The remaining 11 tumors showed various numerical and structural abnormalities in their karyotypes: 8 tumors were near-diploid and the remaining 3 were near-triploid. G- and Q-banding analyses revealed clonal abnormalities in the 11 cases with the presence of marker chromosomes; 15 different chromosomes were involved in chromosome rearrangements, chromosomes 1 and 2 being the most frequently affected. Because of the heterogeneity of the tumor group investigated (neurogenic sarcoma, 2 liposarcomas, neurofibrosarcoma, synovial cell sarcoma, fibrosarcoma, mesothelioma, leiomyosarcoma, rhabdomyosarcoma, Ewing's sarcoma, and hemangiopericytoma), it was impossible to reach any conclusion on the specificity of the cytogenetic abnormalities for a particular tumor type.

Soft tissue sarcomas are a diverse group of neoplasms that arise in the connective tissues throughout the body. They account for approximately 1% of adult malignancies and 7% to 15% of pediatric malignancies. About 50% to 60% of sarcomas occur in the extremities, and although they are rare, they are responsible for more deaths than testicular cancer, Hodgkin’s disease, and thyroid cancer combined (1). These tumors are notorious for recurring and metastasizing—often with devastating results—despite apparently complete resection. INCIDENCE The National Cancer Institute’s Cancer Surveillance, Epidemiology, and End-Result (SEER) Program in 1996 reported 6400 new cases of soft tissue sarcoma, including 3500 in males and 2900 in females (2), for a male-to-female ratio of about 1.2:1. Deaths were reported in 1800 males and 1900 females, so although males are more likely to develop sarcoma, females are more likely to die of it. The 1996 SEER data revealed significant changes from 1990: 700 more new cases and 600 more deaths were reported (3). Devesa studied the decades from the 1970s through the 1990s, however, and observed no such increase (4). This discrepancy may be attributed to the large number of Kaposi’s sarcoma cases that were reported in the 1980s and 1990s and included in the SEER data. Data from the SEER program indicate that African Americans are clearly more predisposed to develop sarcomas than are whites (with the exception of blood vessel sarcomas, which in this scheme included Kaposi’s sarcoma) (Table 1) (5). The predilection for development of sarcomas in males was shown for all histologic subtypes except stromal sarcomas and leiomyosarcomas. The higher incidence of leiomyosarcomas in females is probably due to the occurrence of uterine leiomyosarcoma. Approximately 40% of all sarcomas occur in people older than 55 years. The incidence rate in the general population is 1.4 per 100,000 but rises to 8 per 100,000 for people older than 80 years. The distribution of histologic types varies by age. For example, rhabdomyosarcoma is mostly a tumor of the young; synovial sarcoma and fibrosarcoma occur in younger adults; and malignant fibrous histiocytomas occur more often in mature adults (6). In contrast to the biologic behavior of carcinomas, which varies dramatically depending on the site and therefore the cell type of origin, that of soft tissue sarcomas is similar regardless of

Introduction Synovial sarcoma is a malignant tumor of mesenchymal pluripotent cells.Objectives We present a case of synovial sarcoma in the posterolateral wall of the oropharynx.Resumed report The patient, a 23-year-old woman, was admitted with a history of dysphagia and difficulty in breathing for 8 months, resulting in progressive deterioration and onset of snoring, muffled voice, and local pain. An oropharyngeal tumor in the left posterolateral wall touched the base of the ipsilateral tongue. The patient underwent endoscopic pharyngectomy to remove the lesion. Pathologic examination revealed synovial sarcoma with positive margins, and Mohs technique was proposed for margin control. The margins were disease-free, without the need for total laryngectomy. The pharynx was reconstructed with a microvascular forearm flap. The patient developed postoperative stability.Conclusion Despite its name, synovial sarcoma is rarely sourced directly from synovial membranes. It is most commonly found in the vicinity of large joints. The location at the head and neck, a location poor in synovial tissue, is unusual. Synovial sarcoma in the head and neck has an aggressive nature and poor prognosis. Resection with negative margins remains the foundation of therapy, which is not so easily achieved in the head and neck. It is important for the otorhinolaryngologist and head and neck surgeon to be familiar with this aggressive tumor, which carries high mortality and morbidity. The appropriate diagnosis and treatment can improve prognosis and patient survival.

We report on an unusual case of a 43-year-old woman who developed a malignant soft tissue tumor of the arm with overlapping morphology between synovial sarcoma (SS) and extraskeletal myxoid chondrosarcoma (EMC). The tumor recurred 7 years after the initial diagnosis and continued to demonstrate both SS and EMC histology. Immunophenotypically, the primary and recurrent tumors were both positive, focally, for cytokeratin, S-100, bcl-2, and epithelial membrane antigen. At the time of recurrence, the primary and recurrent tumors were further characterized for genetic and molecular abnormalities. Intriguingly, fluorescence in situ hybridization of the primary tumor revealed rearrangements of both the SS18 and EWSR1 genes. Furthermore, reverse transcriptase-polymerase chain reaction studies of both the primary tumor and the recurrence confirmed the presence of both SS18-SSX2 and EWSR1-NR4A3 (exon 3) gene fusions, characteristic of SS and EMC, respectively. This is the first reported case of a remarkable soft tissue sarcoma that exhibits overlapping morphologic features between SS and EMC and that also harbors a combination of SS18-SSX2 and EWS-NR4A3 gene fusions. This case supports the fact that specific, reproducible gene fusions frequently direct, cooperatively or competitively, basic histogenetic processes to produce tumor phenotypes.