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1.
J Med Case Rep ; 18(1): 440, 2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39267156

ABSTRACT

BACKGROUND: In this report, we describe an uncommon instance of fungating synovial sarcoma affecting the posterior aspect of the neck. Although the existing literature has documented a limited number of cases, this particular case contributes to the knowledge about it, which is scarce. CASE PRESENTATION: A total of 5 months before the examination, a Pakistani-Asian male, age 20 years, complained of a malodorous fungating swelling on the posterior aspect of his neck. An examination revealed a foul-smelling, 10 × 13 cm fungating enlargement surrounded by maggots and hemorrhaging at the site of the incision. A hemoglobin level of 6 and a total leukocyte count (TLC) of 23,000 indicated the patient's disoriented and pallid appearance. He was expeditiously admitted, and preoperatively, the general well-being of the patient was optimized. After a comprehensive discussion with the medical team, a strategy for marginal excision and coverage with a latissimus dorsi (LD) flap and grafting was devised. The tumor was successfully excised, and an LD flap with graft was conducted on the patient during surgery; however, the infection caused the failure of half of the graft. Following that, the lesion was debrided, and re-grafting was performed. The patient was subsequently administered 5 cycles of chemotherapy and 32 cycles of radiotherapy. He was diagnosed with pulmonary metastasis 2 years later. Sadly, the patient died during a follow-up visit 3.5 years later. CONCLUSIONS: The patient's unfavorable prognosis after surgical intervention, radiotherapy, and chemotherapy, despite undergoing all-encompassing treatments, underscores the importance of early detection and intervention in fungating tumor cases.


Subject(s)
Head and Neck Neoplasms , Sarcoma, Synovial , Humans , Male , Sarcoma, Synovial/therapy , Sarcoma, Synovial/surgery , Sarcoma, Synovial/pathology , Young Adult , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/surgery , Surgical Flaps
2.
Cancer Med ; 13(17): e70207, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39279240

ABSTRACT

INTRODUCTION: Synovial sarcoma is one of the most common soft tissue sarcomas in children. Guidelines regarding the adequate extent of resection margins and the role of re-resection are lacking. We sought to evaluate the adequate resection margin and the role of re-resection in predicting outcomes in children with synovial sarcomas. METHODS: A cohort of 36 patients less than 18 years of age at diagnosis who were treated for localized synovial sarcoma at three tertiary pediatric hospitals between January 2004 and December 2020 were included in this study. Patient and tumor demographics, treatment information, and margin status after surgical resection were collected from the medical record. Clinical, treatment, and surgical characteristics, as well as outcomes including hazard ratios (HRs), event-free survival (EFS), and overall survival (OS) were compared by resection margins group and re-resection status. RESULTS: Patients in the R1 resection group were significantly more likely to relapse or die compared to patients in the R0 resection group. However, there was no significant difference in EFS (HR 0.52, p = 0.54) or OS (HR 1.56, p = 0.719) in R0 patients with less than 5 mm margins compared to R0 patients with more than 5 mm margins. Patients with R1 on initial or re-resection had significantly worse OS than patients who had R0 resection on initial or re-resection (HR = 10.12, p = 0.005). CONCLUSION: This study re-affirms that R0 resection is an independent prognostic predictor of better OS/EFS in pediatric synovial sarcoma. Second, our study extends this finding to report negative margins on initial resection or re-resection is associated with better OS/EFS than positive margins on initial resection or re-resection. Lastly, we found that there is no difference in outcomes associated with re-resection or <5 mm margins for R0 patients, indicating that re-resection and <5 mm margins are acceptable if microscopic disease is removed.


Subject(s)
Margins of Excision , Sarcoma, Synovial , Humans , Sarcoma, Synovial/surgery , Sarcoma, Synovial/pathology , Sarcoma, Synovial/mortality , Female , Male , Child , Adolescent , Child, Preschool , Retrospective Studies , Neoplasm Recurrence, Local/surgery , Reoperation , Prognosis
3.
Acta Neurochir (Wien) ; 166(1): 326, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-39105874

ABSTRACT

INTRODUCTION: The management of spinal sarcomas is complex, given their widespread involvement and high recurrence rates. Despite consensus on the need for a multidisciplinary approach with surgery at its core, there is a lack of definitive guidelines for clinical decision-making. This study examines a case series of primary spinal sarcomas, focusing on the surgical strategies, clinical results, and survival data to inform and guide therapeutic practices. METHODS: We conducted a retrospective analysis of patients who underwent surgical resection for primary spinal sarcomas between 2005 and 2022. The study focused on gathering data on patient demographics, surgical details, postoperative complications, overall hospital stay, and mortality within 90 days post-surgery. RESULTS: The study included 14 patients with a primary diagnosis of spinal sarcoma, with an average age of 48.6 ± 12.6 years. Chondrosarcoma emerged as the most common tumor type, representing 57.1% of cases, followed by Ewing sarcoma at 35.7%, and synovial sarcoma at 7.1%. Patients with chondrosarcoma were treated with en-bloc resection, while the patient with synovial sarcoma underwent intra-lesional excision and those with Ewing sarcoma received decompression and tumor debulking. Postoperative assessments revealed significant improvements in neurological conditions. Notably, functional status as measured by the Karnofski Performance Index (KPI), improved substantially post-surgery (from 61.4 to 80.0%) The mean follow-up was 34.9 ± 9.2 months. During this time period one patient experienced fatal bleeding after en-bloc resection complications involving the vena cava. None of the patient needed further surgery. CONCLUSIONS: Our 16-year study offers vital insights into managing primary spinal sarcomas, showcasing the effectiveness of surgical intervention, particularly en-bloc resection. Despite their rarity and complexity, our multidisciplinary treatment approach yields improved outcomes and highlights the potential for refined surgical strategies to become standardized care in this challenging domain.


Subject(s)
Sarcoma , Spinal Neoplasms , Humans , Middle Aged , Retrospective Studies , Male , Female , Adult , Sarcoma/surgery , Sarcoma/mortality , Spinal Neoplasms/surgery , Spinal Neoplasms/mortality , Treatment Outcome , Neurosurgical Procedures/methods , Aged , Sarcoma, Synovial/surgery , Sarcoma, Synovial/mortality , Chondrosarcoma/surgery , Chondrosarcoma/mortality , Chondrosarcoma/pathology , Sarcoma, Ewing/surgery , Sarcoma, Ewing/mortality , Postoperative Complications/etiology , Patient Care Team
4.
J Cancer Res Clin Oncol ; 150(8): 392, 2024 Aug 20.
Article in English | MEDLINE | ID: mdl-39162837

ABSTRACT

BACKGROUND: Primary cardiac synovial sarcoma is a rare condition with limited treatment options for advanced stages. Surgery and chemotherapy are currently the mainstay treatments; however, survival rates remain low. CASE PRESENTATION: A 64-year-old woman presenting with symptoms of chest tightness and shortness of breath was found to have an obstructive right atrial mass, along with pulmonary infarction and metastasis. She was ultimately diagnosed with advanced primary cardiac synovial sarcoma. Following surgery, the patient's symptoms improved, and she underwent chemotherapy and anti-angiogenic therapy, but unfortunately, her survival time was only 8 months. CONCLUSION:  This case report aims to enhance clinicians' understanding of the diagnosis and treatment of primary cardiac synovial sarcoma. Enhancing both survival outcomes and quality of life in individuals with primary cardiac synovial sarcoma continues to present a significant challenge.


Subject(s)
Heart Neoplasms , Pulmonary Infarction , Sarcoma, Synovial , Humans , Sarcoma, Synovial/pathology , Sarcoma, Synovial/complications , Sarcoma, Synovial/diagnosis , Female , Middle Aged , Heart Neoplasms/pathology , Heart Neoplasms/complications , Pulmonary Infarction/pathology , Pulmonary Infarction/etiology , Atrial Septum/pathology
5.
ESMO Open ; 9(8): 103645, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39153316

ABSTRACT

BACKGROUND: To better understand the importance of the New York esophageal squamous cell carcinoma 1 (NY-ESO-1) and human leukocyte antigen (HLA) subtypes in treatment decision-making, further investigation of their prevalence and prognostic impact among patients with metastatic synovial sarcoma (mSS) is needed. PATIENTS AND METHODS: This was a retrospective clinico-biological cohort study of adults with mSS. Patient data were collected from the French Sarcoma Group NetSARC database and supplemented by electronic medical records. Primary tumor samples were collected and analyzed for NY-ESO-1 expression by immunohistochemistry (IHC) and HLA-A∗02 status by RNA sequencing (RNA-seq). The primary cohort included patients with available primary tumor samples; the impact of a larger sample size was explored by including patients who had either a primary or metastatic sample (termed the exploratory cohort). P values are provided for descriptive purposes. RESULTS: In 92 patients with primary tumor samples, ∼25% (n = 23) were positive for NY-ESO-1 and HLA-A∗02 expression (dual positive). Among 106 patients with IHC data, 61% (n = 65) were NY-ESO-1 positive, and among 94 patients with RNA-seq data, 45% (n = 42) were HLA-A∗02 positive. The median overall survival (OS) for positive versus negative NY-ESO-1 status was 35.3 and 21.7 months, respectively (unadjusted P = 0.0428). We observed no difference in median OS for HLA-A∗02-positive versus -negative and dual-positive patients versus others (both unadjusted P > 0.05). Multivariate analyses of OS showed no prognostic impact for NY-ESO-1 among primary tumor samples and in the exploratory cohort. However, in the latter we observed an association between NY-ESO-1 expression and OS in the first-line (P = 0.0041) but not in the second-line setting. CONCLUSIONS: The primary tumor cohort showed no association between NY-ESO-1 expression and OS (including stratification by HLA-A∗02 subtype and treatment line) when adjusting for important prognostic factors, possibly due to small sample sizes.


Subject(s)
Antigens, Neoplasm , Membrane Proteins , Sarcoma, Synovial , Humans , Sarcoma, Synovial/genetics , Sarcoma, Synovial/metabolism , Sarcoma, Synovial/pathology , Sarcoma, Synovial/mortality , Male , Female , Retrospective Studies , Prognosis , Middle Aged , Adult , Membrane Proteins/metabolism , Antigens, Neoplasm/metabolism , Aged , Biomarkers, Tumor/metabolism , Neoplasm Metastasis
6.
Pathol Res Pract ; 262: 155517, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39151249

ABSTRACT

Melanoma can pose a significant diagnostic challenge due to the high variability in histological morphology and expression of non-melanocytic immunomarkers. We present a case of a 47-year-old male with an aggressive mediastinal neoplasm and disseminated disease posing several diagnostic challenges. Multiple biopsies were submitted from different anatomic locations and during multiple time points showing an undifferentiated round cell tumor (URCT) with synovial sarcoma-like immunophenotype. SS18::SSX fusion was sought through NGS study for diagnostic confirmation. NGS results revealed NRAS and CDKN2A mutations and absence of fusions, resulting in a new review of the histologic material with a broader immunohistochemical panel, finding strong positivity to melanic antibodies. This case is an illustrative example of a malignant melanoma with small round cell morphology showing aberrant expression of CD99, BCL2, TLE1 and SS18-SSX antibodies exposing a potentially hazardous pitfall highlighting the importance of a wide differential diagnosis and the role of confirmational studies with molecular tests.


Subject(s)
Biomarkers, Tumor , Immunophenotyping , Mediastinal Neoplasms , Melanoma , Sarcoma, Synovial , Humans , Male , Middle Aged , Melanoma/pathology , Melanoma/diagnosis , Melanoma/immunology , Melanoma/genetics , Sarcoma, Synovial/pathology , Sarcoma, Synovial/genetics , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/immunology , Mediastinal Neoplasms/pathology , Mediastinal Neoplasms/diagnosis , Mediastinal Neoplasms/immunology , Mediastinal Neoplasms/genetics , Immunophenotyping/methods , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Diagnosis, Differential , Oncogene Proteins, Fusion/genetics , Membrane Proteins/genetics , Membrane Proteins/metabolism , GTP Phosphohydrolases/genetics
7.
Int J Mol Sci ; 25(14)2024 Jul 11.
Article in English | MEDLINE | ID: mdl-39062853

ABSTRACT

Synovial sarcoma (SS) is a rare soft-tissue tumor characterized by a monomorphic blue spindle cell histology and variable epithelial differentiation. Morphologically, SSs may be confused with other sarcomas. Systemic treatment is more effective for patients with high-risk SSs, patients with advanced disease, and younger patients. However, further studies are required to find new prognostic biomarkers. Herein, we describe the morphological, molecular, and clinical findings, using a wide immunohistochemical panel, of a series of SS cases. We studied 52 cases confirmed as SSs by morphological diagnosis and/or molecular studies. Clinical data (gender, age, tumor size, tumor location, resection margins, adjuvant treatment, recurrences, metastasis, and survival) were also retrieved for each patient. All the available H&E slides were examined by four pathologists. Three tissue microarrays (TMAs) were constructed for each of the tumors, and a wide immunohistochemical panel was performed. For time-to-event variables, survival analysis was performed using Kaplan-Meier curves and log-rank testing, or Cox regression. Statistical significance was considered at p < 0.05. The mean age of our patients was 40.33, and the median was 40.5 years. We found a predominance of males versus females (1.7:1). The most frequent morphological subtype was monophasic. TRPS1, SS18-SSX, and SSX-C-terminus were positive in 96% of cases. GLI1 expression was strong in six and focal (cytoplasmic) in twenty patients. Moreover, BCOR was expressed in more than half of SSs. Positive expression of both proteins, BCOR and GLI1, was correlated with a worse prognosis. Multivariate analysis was also performed, but only BCOR expression appeared to be significant. The combination of GLI1 and BCOR antibodies can be used to group SSs into three risk groups (low, intermediate, and high risk). We hypothesize that these findings could identify which patients would benefit from receiving adjuvant treatment and which would not. Moreover, these markers could represent therapeutic targets in advanced stages. However, further, larger series of SSs and molecular studies are necessary to corroborate our present findings.


Subject(s)
Biomarkers, Tumor , Immunohistochemistry , Proto-Oncogene Proteins , Repressor Proteins , Sarcoma, Synovial , Zinc Finger Protein GLI1 , Humans , Sarcoma, Synovial/metabolism , Sarcoma, Synovial/pathology , Sarcoma, Synovial/genetics , Male , Female , Repressor Proteins/metabolism , Repressor Proteins/genetics , Adult , Middle Aged , Prognosis , Biomarkers, Tumor/metabolism , Proto-Oncogene Proteins/metabolism , Proto-Oncogene Proteins/genetics , Zinc Finger Protein GLI1/metabolism , Zinc Finger Protein GLI1/genetics , Aged , Young Adult , Adolescent , Kaplan-Meier Estimate
8.
Niger J Clin Pract ; 27(7): 925-928, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-39082921

ABSTRACT

Schwannoma, also known as neurilemmoma or Schwann cell tumor, is one of the most common neoplasms of the nerve sheath which usually appears at the head, neck, or upper extremity. Schwannoma occurrence in the lower extremity originating from the common peroneal nerve is rarely reported according to literary findings. We report a case of a 32-year-old man who presented with a 6-month history of a growing lump in the left knee. MRT revealed a well-defined 9.6 cm × 7.8 cm × 6.5 cm multilobular mass of heterogeneous consistency with areas of necroses with a likely diagnosis of synovial sarcoma. After surgery, a final histopathological assessment of the tumor demonstrated Antoni A and B patterns with nuclear palisading, hallmarks of a schwannoma. Postoperatively the patient suffered a neurological complication-impaired dorsiflexion of the left foot. The patient started immediate physiotherapy in the Department of Rehabilitation. Three weeks after the operation, gradual improvement in neurological function was observed. To date, complete tumor excision combined with microscopic analysis and immunohistochemical staining remains the gold standard in diagnosing and treating a peripheral nerve schwannoma. Moreover, the use of additional nerve monitoring tools during surgery could help to prevent complications.


Subject(s)
Neurilemmoma , Peripheral Nervous System Neoplasms , Peroneal Nerve , Sarcoma, Synovial , Humans , Male , Neurilemmoma/diagnosis , Neurilemmoma/surgery , Neurilemmoma/pathology , Adult , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/surgery , Sarcoma, Synovial/pathology , Peroneal Nerve/pathology , Peroneal Nerve/surgery , Diagnosis, Differential , Peripheral Nervous System Neoplasms/diagnosis , Peripheral Nervous System Neoplasms/surgery , Peripheral Nervous System Neoplasms/pathology , Magnetic Resonance Imaging , Peroneal Neuropathies/diagnosis , Peroneal Neuropathies/surgery , Treatment Outcome
9.
Cancer Epidemiol ; 92: 102627, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39048411

ABSTRACT

BACKGROUND: Synovial sarcoma (SS) is a rare soft-tissue cancer. Existing literature encompasses Surveillance, Epidemiology, and End Results (SEER) data-based research on SS explaining the incidence-prevalence in general, by subtypes, and by age at diagnosis. Therefore, this study aimed to fill in the gap of knowledge about measures of disease occurrence and burden of SS by tumor site using the SEER database. METHODS: In this cross-sectional study, primary SS patients were selected from SEER 17 Registries, Nov. 2021 (2000-2020) using ICD-O-3 codes 9040, 9041, 9042, and 9043. Patients with additional cancers were excluded. The primary tumor site was categorized into (1) head/neck, (2) internal thorax, (3) abdomen/pelvis, (4) upper extremity, and (5) lower extremity using ICD-10CM codes. Five outcomes were analyzed: age-adjusted incidence rate, 5-year limited-duration prevalence rate, incidence-based mortality, case-fatality rate, and overall survival. RESULTS: From 2000-2020, the overall age-adjusted incidence rate was 0.15 per 100,000; the 5-year limited duration prevalence rate was 0.56 per 100,000; and the incidence-based mortality rate was 0.06 per 100,000 people. The case-fatality and 5-year OS rates were 39.2 % and 62.9 %, respectively. Lower extremity had the highest incidence of 0.07 (estimated 1166 cases), prevalence of 0.36 (estimated 224 cases), and mortality rate of 0.025 (estimated 429 deaths) per 100,000. The other four locations had much closer rates with each other. Intrathoracic SS had the highest case-fatality rate of 71.5 % (148/207) and lowest 5-year OS of 26.0 % (95 % CI: 19.6 %, 32.9 %) than other sites. CONCLUSION: Based on the measures of disease frequency, the most common primary tumor site is the lower extremity, followed by the upper extremity, abdomen/pelvis, internal thorax, and head/neck. The least favorable primary location is the internal thorax. Those with a primary location of the upper extremity have the longest overall survival, followed by the head/neck, lower extremity, abdomen/pelvis, and internal thorax.


Subject(s)
SEER Program , Sarcoma, Synovial , Humans , Sarcoma, Synovial/epidemiology , Sarcoma, Synovial/pathology , Male , Female , Middle Aged , United States/epidemiology , SEER Program/statistics & numerical data , Cross-Sectional Studies , Incidence , Adult , Aged , Prevalence , Young Adult , Adolescent , Thoracic Neoplasms/epidemiology , Thoracic Neoplasms/pathology , Head and Neck Neoplasms/epidemiology , Head and Neck Neoplasms/pathology , Survival Rate , Child , Aged, 80 and over , Infant
10.
Diagn Pathol ; 19(1): 104, 2024 Jul 26.
Article in English | MEDLINE | ID: mdl-39061063

ABSTRACT

BACKGROUND: Synovial sarcoma is a rare soft tissue malignancy, occasionally found in the head and neck region. The diagnosis necessitates a multidisciplinary approach involving the clinical presentation, proper imaging studies and histological confirmation, with molecular testing for definitive identification. Treatment entails surgical resection with adjuvant therapies as needed. CASE PRESENTATION: A 33-year-old male patient presented with globus sensation concomitant with right-sided neck swelling. He was clinically found to have right tonsil enlargement with posterior extension. Therefore, he underwent right tonsillectomy with pharyngoplasty. Histopathological examination revealed a biphasic tumor consistent with synovial sarcoma, confirmed by immunohistochemistry and fluorescence in situ hybridization. CONCLUSIONS: Tonsillar synovial sarcoma represents a diagnostic challenge, requiring a high index of suspicion and comprehensive evaluation. With only twenty previously published cases documented in the literature, awareness of this rare presentation is crucial for prompt diagnosis and appropriate management. Collaboration among multidisciplinary healthcare teams and ongoing research efforts are essential for optimizing diagnostic accuracy, treatment efficacy, and patient outcomes in this rare malignancy.


Subject(s)
Sarcoma, Synovial , Tonsillar Neoplasms , Humans , Sarcoma, Synovial/pathology , Sarcoma, Synovial/genetics , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/chemistry , Male , Adult , Tonsillar Neoplasms/pathology , Tonsillar Neoplasms/surgery , Immunohistochemistry , In Situ Hybridization, Fluorescence , Tonsillectomy , Biomarkers, Tumor/analysis
11.
Int J Mol Sci ; 25(13)2024 Jul 05.
Article in English | MEDLINE | ID: mdl-39000489

ABSTRACT

Synovial sarcomas are soft tissue tumours of uncertain origin, most commonly found in the upper or lower extremities. They are characterised by distinctive chromosomal rearrangements involving the gene SS18. Synovial sarcomas can occasionally arise also in visceral sites, but retroperitoneal SSs are very unusual. Among them, a few primary renal synovial sarcomas have been described in the scientific literature. Primary renal synovial sarcomas tend to be monophasic and often show cystic changes. Histologically, they can closely resemble other primary kidney tumours, mainly paediatric tumours such as nephroblastoma and clear cell sarcoma of the kidney. In the current work, a primary synovial sarcoma of the kidney with unusual morphological features (extensively myxoid stroma and immunohistochemical positivity for BCOR) is described. Molecular analysis, through targeted RNA sequencing, was of invaluable help in reaching the correct diagnosis. Despite locally advanced disease at presentation, the patient showed an unexpectedly brilliant response to chemotherapy.


Subject(s)
Biomarkers, Tumor , Kidney Neoplasms , Sarcoma, Synovial , Humans , Sarcoma, Synovial/genetics , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/metabolism , Sarcoma, Synovial/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Kidney Neoplasms/metabolism , Kidney Neoplasms/pathology , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Male , Diagnosis, Differential , Cell Differentiation , Female , Proto-Oncogene Proteins , Repressor Proteins
12.
J Cell Mol Med ; 28(14): e18541, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39046429

ABSTRACT

Synovial sarcoma (SS) is an aggressive soft tissue sarcoma with poor prognosis due to late recurrence and metastasis. Metastasis is an important prognostic factor of SS. This study aimed to identify the core genes and mechanisms associated with SS metastasis. Microarray data for GSE40021 and GSE40018 were obtained from the Gene Expression Omnibus database. 186 differentially expressed genes (DEGs) were identified. The biological functions and signalling pathways closely associated with SS metastasis included extracellular matrix (ECM) organization and ECM-receptor interaction. Gene set enrichment analysis showed that the terms cell cycle, DNA replication, homologous recombination and mismatch repair were significantly enriched in the metastasis group. Weighted gene co-expression network analysis identified the most relevant module and 133 hub genes, and 31 crossover genes were identified by combining DEGs. Subsequently, four characteristic genes, EXO1, NCAPG, POLQ and UHRF1, were identified as potential biomarkers associated with SS metastasis using the least absolute shrinkage and selection operator algorithm and validation dataset verification analysis. Immunohistochemistry results from our cohort of 49 patients revealed visible differences in the expression of characteristic genes between the non-metastatic and metastatic groups. Survival analysis indicated that high expression of characteristic genes predicted poor prognosis. Our data revealed that primary SS samples from patients who developed metastasis showed activated homologous recombination and mismatch repair compared to samples from patients without metastasis. Furthermore, EXO1, NCAPG, POLQ and UHRF1 were identified as potential candidate metastasis-associated genes. This study provides further research insights and helps explore the mechanisms of SS metastasis.


Subject(s)
Biomarkers, Tumor , Gene Expression Profiling , Gene Expression Regulation, Neoplastic , Neoplasm Metastasis , Sarcoma, Synovial , Sarcoma, Synovial/genetics , Sarcoma, Synovial/pathology , Sarcoma, Synovial/metabolism , Humans , Prognosis , Biomarkers, Tumor/genetics , Gene Regulatory Networks , Female , Male , Databases, Genetic , Computational Biology/methods , Middle Aged
13.
Acta Oncol ; 63: 586-591, 2024 Jul 22.
Article in English | MEDLINE | ID: mdl-39037077

ABSTRACT

BACKGROUND: While soft tissue sarcomas affect younger patients, few studies have assessed the distribution of underlying pathogenic germline variants. PATIENTS AND METHODS: We retrospectively identified all pediatric and young adult patients (0-22 years) at Haukeland University Hospital, Norway (1981-2019), through clinical and pathological records. We identified n = 46 eligible patients. From these 46 patients, adequate material representing normal tissue was available for n = 41 cases (n = 24 diagnosed with rhabdomyosarcoma, 9 with synovial sarcomas, 2 with Ewing sarcomas, and 6 without further classification), with matching tumor tissue for n = 40. Normal tissue samples were analyzed for germline pathogenic variants (PVs) by targeted sequencing of 360 cancer genes. RESULTS: Out of the 41 analyzed cases, we found PVs or likely PVs in 7 (17%). These variants were found in TP53, MUTYH, FANCC, DICER1, FANCA, MYO3A, and MYO5B. Supporting the causality of these PVs, four cases revealed loss of heterozygosity (LOH) of the wild-type allele in the tumor tissue, one patient with a PV in DICER1 had a second somatic variant in DICER1, and a patient with a PV in TP53 had the altered allele amplified in the tumor. For three out of five with available family history, a history of other cancers in relatives was recorded. Among genes with variants of uncertain significance, CHD1L was of particular interest, revealing a stop-gain and a missense variant. INTERPRETATION: A high fraction of young patients with soft tissue sarcoma harbor PVs. Among the genes affected, we substantiate a potential role of MYO5B and propose a potential role for MYO3A.


Subject(s)
Germ-Line Mutation , Humans , Male , Child , Adolescent , Female , Young Adult , Retrospective Studies , Child, Preschool , Infant , Sarcoma/genetics , Sarcoma/pathology , Infant, Newborn , Adult , Norway , Genetic Predisposition to Disease , Sarcoma, Synovial/genetics , Sarcoma, Synovial/pathology , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/pathology , Loss of Heterozygosity , Soft Tissue Neoplasms/genetics , Soft Tissue Neoplasms/pathology , Sarcoma, Ewing/genetics , Sarcoma, Ewing/pathology
14.
Vet Res Commun ; 48(4): 2827-2833, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38833194

ABSTRACT

A 12-year-old, 3 kg spayed female mixed-breed dog was evaluated to assess a 1-year history of intermittent right forelimb lameness that did not have adequate response to nonsteroidal anti-inflammatory drugs. The radiographic study performed under sedation showed multifocal radiolucent areas affecting both the right humerus and scapula with focal soft tissue swelling; a CT scan confirmed the existence of an aggressive and invasive soft tissue mass affecting the scapulohumeral joint. Fine needle aspiration results suggested a low-grade synovial sarcoma and therefore a scapulectomy was performed. The biopsy showed spindle to stellated cells immersed in a basophilic and mucinous (myxoid) matrix with mild to moderate anisocytosis, moderate anisokaryosis, some binucleated cells and sporadic multinucleated cells. These findings are consistent with low-grade synovial myxosarcoma, a not well described synovial neoplasm that can mimic other commonly seen joint tumors or even septic arthritis on radiographs. The purpose of this case report is to describe the first reported synovial myxosarcoma affecting the scapulohumeral joint of a small dog.


Subject(s)
Dog Diseases , Myxosarcoma , Animals , Dogs , Female , Dog Diseases/pathology , Dog Diseases/diagnostic imaging , Dog Diseases/diagnosis , Dog Diseases/surgery , Myxosarcoma/veterinary , Myxosarcoma/pathology , Myxosarcoma/diagnosis , Myxosarcoma/surgery , Sarcoma, Synovial/veterinary , Sarcoma, Synovial/pathology , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/diagnostic imaging , Scapula/pathology , Scapula/diagnostic imaging , Lameness, Animal/etiology
16.
Anticancer Res ; 44(6): 2453-2458, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38821602

ABSTRACT

BACKGROUND/AIM: Synovial sarcoma (SS) is a rare malignant tumor with a poor survival rate. We previously reported that a combination of auranofin (AUR), a thioredoxin reductase inhibitor, and celecoxib (CE), an anti-inflammatory drug, significantly impedes the local progression of osteosarcoma (OS). However, the role of redox regulation in SS remains to be elucidated. This study aimed to investigate the efficacy of combined treatment of AUR and CE on the local progression of SS in vivo. MATERIALS AND METHODS: Nu/nu mice were implanted with the human SS cell line, Aska-SS, and treated with vehicle control, AUR, or a combination of AUR and CE (AUR-CE). Primary tumor size and weight were evaluated for the study duration and upon resection, respectively. Hematoxylin and eosin (H&E) and Ki-67 staining were performed to assess the local progression of SS. RESULTS: A statistically significant reduction in tumor size and weight was observed in the AUR- and AUR-CE-treated groups upon excision compared to that in the vehicle-treated group. The AUR-CE-treated group showed synergistic inhibition of local tumor growth. H&E staining of local SS tumors revealed decreased cell density and nuclear deformation in the AUR- and AUR-CE-treated groups compared to those in the vehicle-treated group. Immunohistochemical staining revealed a statistically significant decrease in Ki-67-positive cells in the AUR-CE-treated group compared to the vehicle-treated group. CONCLUSION: The combination of AUR and CE showed significant potential for delaying the local progression of SS. These findings support the repurposing of AUR and CE as early treatment options for SS.


Subject(s)
Auranofin , Celecoxib , Disease Progression , Sarcoma, Synovial , Xenograft Model Antitumor Assays , Celecoxib/pharmacology , Celecoxib/administration & dosage , Animals , Sarcoma, Synovial/drug therapy , Sarcoma, Synovial/pathology , Sarcoma, Synovial/metabolism , Auranofin/pharmacology , Auranofin/therapeutic use , Humans , Mice , Cell Line, Tumor , Mice, Nude , Antineoplastic Combined Chemotherapy Protocols/pharmacology , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Cell Proliferation/drug effects
17.
Folia Med (Plovdiv) ; 66(2): 277-281, 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38690825

ABSTRACT

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.


Subject(s)
Lung Neoplasms , Sarcoma, Synovial , Humans , Sarcoma, Synovial/surgery , Sarcoma, Synovial/pathology , Sarcoma, Synovial/diagnostic imaging , Sarcoma, Synovial/diagnosis , Male , Adult , Lung Neoplasms/surgery , Lung Neoplasms/pathology , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/diagnosis , Pneumonectomy , Tomography, X-Ray Computed , Immunohistochemistry
19.
Zhonghua Zhong Liu Za Zhi ; 46(5): 449-456, 2024 May 23.
Article in Chinese | MEDLINE | ID: mdl-38742358

ABSTRACT

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.


Subject(s)
Mediastinal Neoplasms , Tomography, X-Ray Computed , Humans , Mediastinal Neoplasms/diagnostic imaging , Mediastinal Neoplasms/pathology , Retrospective Studies , Carcinoma, Neuroendocrine/diagnostic imaging , Carcinoma, Neuroendocrine/pathology , Carcinoma, Neuroendocrine/diagnosis , Lymph Nodes/pathology , Lymph Nodes/diagnostic imaging , Mediastinum/diagnostic imaging , Sarcoma, Synovial/diagnostic imaging , Sarcoma, Synovial/pathology , Sarcoma, Synovial/diagnosis , Middle Aged , Male , Female
20.
Kyobu Geka ; 77(4): 311-314, 2024 Apr.
Article in Japanese | MEDLINE | ID: mdl-38644180

ABSTRACT

The patient is a 76-year-old man. His chief complaint of chest pain led to a diagnosis of pericardial effusion of unknown cause, and pericardial drainage was performed. On the 30th day, chest pain appeared again. Echocardiography revealed a pericardial fluid reaccumulation and a substantial mass in the pericardial space. Surgical drainage was performed to find the cause. A hematoma/mass was present on the epicardium. The pericardial sac was filled with hematoma. The hematoma was removed, but part of the mass infiltrated close to the anterior descending branch of the left coronary artery, and removal of that part was abandoned. The intrapericardial hematoma and epicardium were submitted to pathology leading to the diagnosis of synovial sarcoma. The patient was discharged home 14 days after surgery.


Subject(s)
Heart Neoplasms , Pericardial Effusion , Sarcoma, Synovial , Humans , Male , Sarcoma, Synovial/complications , Sarcoma, Synovial/surgery , Sarcoma, Synovial/diagnostic imaging , Pericardial Effusion/etiology , Pericardial Effusion/diagnostic imaging , Pericardial Effusion/surgery , Aged , Heart Neoplasms/complications , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Recurrence
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