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Cancers Mar 2024Synovial sarcoma (SS), a rare subtype of soft-tissue sarcoma distinguished by expression of the fusion gene SS18-SSX, predominantly affects the extremities of young...
Synovial sarcoma (SS), a rare subtype of soft-tissue sarcoma distinguished by expression of the fusion gene SS18-SSX, predominantly affects the extremities of young patients. Existing anticancer drugs have limited efficacy against this malignancy, necessitating the development of innovative therapeutic approaches. Given the established role of SS18-SSX in epigenetic regulation, we focused on bromodomain and extra-terminal domain protein (BET) inhibitors and epigenetic agents. Our investigation of the BET inhibitor ABBV-075 revealed its pronounced antitumor effects, inducing G1-phase cell-cycle arrest and apoptosis, in four SS cell lines. Notably, BET inhibitors exhibited regulatory control over crucial cell-cycle regulators, such as MYC, p21, CDK4, and CDK6. Additionally, RNA sequencing findings across the four cell lines revealed the significance of fluctuating BCL2 family protein expression during apoptotic induction. Notably, variations in the expression ratio of the anti-apoptotic factor BCLxL and the pro-apoptotic factor BIM may underlie susceptibility to ABBV-075. Additionally, knockdown of SS18-SSX, which upregulates BCL2, reduced the sensitivity to ABBV-075. These findings suggest the potential utility of BET inhibitors targeting the SS18-SSX-regulated intrinsic apoptotic pathway as a promising therapeutic strategy for SS.
PubMed: 38539460
DOI: 10.3390/cancers16061125 -
The Journal of International Medical... Mar 2024We 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...
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.
Topics: Humans; Female; Aged; Sarcoma, Synovial; Jejunum; Viscera; Abdominal Pain; Lung
PubMed: 38534077
DOI: 10.1177/03000605241233953 -
World Journal of Clinical Cases Mar 2024Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017. Its diagnosis is often challenging because of its relative rarity, lack of known...
BACKGROUND
Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017. Its diagnosis is often challenging because of its relative rarity, lack of known genetic abnormalities, and expression of muscle markers that can be confused with sarcomas that have myogenic differentiation. Currently, scholars have limited knowledge of this disease, and published cases are few. Further accumulation of diagnostic and treatment experiences is required.
CASE SUMMARY
A 16-year-old girl experienced left upper limb swelling for 3 years. She sought medical attention at a local hospital 10 months ago, where magnetic resonance imaging revealed a 5-cm soft tissue mass. Needle biopsy performed at a local hospital resulted in the diagnosis of a spindle cell soft tissue sarcoma. The patient was referred to our hospital for limb salvage surgery with endoprosthetic replacement. She was initially diagnosed with a synovial sarcoma. Consequently, clinical management with chemotherapy was continued for the malignant sarcoma. Our pathology department also performed fluorescence in situ hybridization for result validation, which returned negative for SS18 gene breaks, indicating that it was not a synovial sarcoma. Next-generation sequencing was used to identify the rearrangement. The final pathological diagnosis was a cellular/myofibroblastic neoplasm with an gene fusion. The patient had initially received two courses of chemotherapy; however, chemotherapy was discontinued after the final diagnosis.
CONCLUSION
This case was misdiagnosed because of its rare occurrence, benign biological behavior, and pathological similarity to soft tissue sarcoma.
PubMed: 38524524
DOI: 10.12998/wjcc.v12.i7.1326 -
Diagnostic Cytopathology Jun 2024Spindle epithelial tumor with thymus-like elements (SETTLE) is a rare biphasic thyroid tumor with low malignant potential that has a distinct morphology. Despite fine...
Spindle epithelial tumor with thymus-like elements (SETTLE) is a rare biphasic thyroid tumor with low malignant potential that has a distinct morphology. Despite fine needle aspiration (FNA) being a common method for evaluating thyroid nodules and lymph nodes, there are limited cytologic descriptions of SETTLE in the literature due to its rarity. As a result, SETTLE is frequently underdiagnosed or misdiagnosed as medullary carcinoma, thymoma, teratoma, synovial sarcoma, or solitary fibrous tumor, among others. We present a case of a 28-year-old man with a history of a hemithyroidectomy diagnosed as SETTLE found to have a neck nodule along the strap muscle suspicious for recurrence 5 years post-surgery. The ultrasound-guided FNA cytology specimen of the neck nodule showed loosely cohesive, monomorphous ovoid to spindled cells with scant cytoplasm and nuclei with fine to granular chromatin. In addition, there were occasional clusters of cells with a papillary configuration. The tumor cells were associated with magenta, amorphous extracellular material. Immunocytochemical staining of the cell block material revealed that tumor cells were positive for p63, cytokeratin AE1/3, and CK8/18 and negative for TTF-1 and thyroglobulin. Overall, the morphological and immunocytochemical findings were consistent with a local recurrence of SETTLE. The subsequent left anterior strap mass excision revealed a 4 cm encapsulated tumor consistent with SETTLE. Because ofits rarity and low level of awareness, SETTLE poses a diagnostic and therapeutic challenge. We herein present the cytologic findings of monomorphic SETTLE and highlight the potential cytomorphologic and immunophenotypic pitfalls. We also highlight how tumors with high-risk features can be a therapeutic challenge.
Topics: Humans; Male; Adult; Neoplasm Recurrence, Local; Thyroid Neoplasms; Neoplasms, Glandular and Epithelial; Biopsy, Fine-Needle; Biomarkers, Tumor
PubMed: 38520309
DOI: 10.1002/dc.25301 -
Discover Oncology Mar 2024Synovial Sarcoma (SS), a highly malignant mesenchymal neoplasm, typically carries a grim prognosis for patients presenting with high-grade or metastatic disease....
OBJECTIVE
Synovial Sarcoma (SS), a highly malignant mesenchymal neoplasm, typically carries a grim prognosis for patients presenting with high-grade or metastatic disease. Although Anlotinib, a new agent for treating soft tissue sarcomas, holds promise, its underlying mechanism remains incompletely understood. This investigation aims to delineate Anlotinib's anticancer effectiveness and potential mechanistic underpinnings in patients suffering from advanced, refractory SS.
MATERIALS AND METHODS
Employing microarray assay, we examined the potential downstream targets of Anlotinib in SS therapy. A shRNA-based high-content screening was performed to identify candidate genes with the greatest influence on SW982 cell proliferation. The knockdown efficacy of selected genes within SW982 cells was confirmed using RT-qPCR as well as western blot analysis. To assess the effect of putative downstream elimination of genes with synovial sarcoma cells, cell proliferation, and apoptotic assays were carried out. Gene chip microarray as well as bioinformatics techniques were utilized to scrutinize potential signaling networks associated with the candidate downstream gene.
RESULTS
QPCR verified high expression of FAM83D in SW982 cells, shRNA was designed to silence FAM83D by lentivirus transfection, apoptosis assay, and cell cycle arrest showing that FAM83D downregulation augments apoptosis in SW982 cells and arrests cell cycle progression in the S stage. Inhibition of FAM83D expression upregulated STAT1 while downregulated BIRC5, MCM2, and CDK1 genes in vitro.
CONCLUSIONS
This experimental study identified FAM83D as a critical regulator that contributes to the proliferation and progression of SS, suggesting that FAM83D-regulated signaling pathway may serve as a prospective target in SS management.
PubMed: 38512482
DOI: 10.1007/s12672-024-00943-z -
Virchows Archiv : An International... May 2024Diagnosis of desmoid-type fibromatosis (DF) may be challenging on biopsy due to morphologic overlap with reactive fibrosis (scar) and other uniform spindle cell...
Diagnosis of desmoid-type fibromatosis (DF) may be challenging on biopsy due to morphologic overlap with reactive fibrosis (scar) and other uniform spindle cell neoplasms. Evaluation of nuclear β-catenin, a surrogate of Wnt pathway activation, is often difficult in DF due to weak nuclear expression and high background membranous/cytoplasmic staining. Lymphoid enhancer-factor 1 (LEF1) is a recently characterized effector partner of β-catenin which activates the transcription of target genes. We investigated the performance of LEF1 and β-catenin immunohistochemistry in a retrospective series of 156 soft tissue tumors, including 35 DF, 3 superficial fibromatosis, and 121 histologic mimics (19 soft tissue perineurioma, 8 colorectal perineurioma, 4 intraneural perineurioma, 26 scars, 23 nodular fasciitis, 6 low-grade fibromyxoid sarcomas, 6 angioleiomyomas, 5 neurofibromas, 5 dermatofibrosarcoma protuberans, 3 low-grade myofibroblastic sarcomas, 3 synovial sarcomas, 3 inflammatory myofibroblastic tumors, 2 schwannomas, and 1 each of Gardner-associated fibroma, radiation-associated spindle cell sarcoma, sclerotic fibroma, dermatofibroma, and glomus tumor). LEF1 expression was not only seen in 33/35 (94%) of DF but also observed in 19/23 (82%) nodular fasciitis, 7/19 (37%) soft tissue perineurioma, 2/3 (66%) synovial sarcoma, and 6/26 (23%) scar, as well as in 1 radiation-associated spindle cell sarcoma. The sensitivity and specificity of LEF1 IHC for diagnosis of DF were 94% and 70%, respectively. By comparison, β-catenin offered similar sensitivity, 94%, but 88% specificity. Positivity for LEF1 and β-catenin in combination showed sensitivity of 89%, lower than the sensitivity of β-catenin alone (94%); however, the combination of both LEF1 and β-catenin improved specificity (96%) compared to the specificity of β-catenin alone (88%). Although LEF1 has imperfect specificity in isolation, this stain has diagnostic utility when used in combination with β-catenin.
Topics: Humans; Lymphoid Enhancer-Binding Factor 1; Fibromatosis, Aggressive; Diagnosis, Differential; Female; Male; Adult; Middle Aged; Retrospective Studies; Biomarkers, Tumor; Aged; Adolescent; Young Adult; Soft Tissue Neoplasms; beta Catenin; Immunohistochemistry; Child; Aged, 80 and over; Child, Preschool
PubMed: 38503969
DOI: 10.1007/s00428-024-03782-z -
International Journal of Surgery Case... Apr 2024Chest wall tumors, rare but impactful, constitute less than 2 % of the population and 5 % of thoracic neoplasms. Wide-margin resection is vital, often causing...
INTRODUCTION AND IMPORTANCE
Chest wall tumors, rare but impactful, constitute less than 2 % of the population and 5 % of thoracic neoplasms. Wide-margin resection is vital, often causing substantial defects necessitating reconstruction. However, in resource-limited settings like sub-Saharan Africa, access to reconstruction materials is limited. We present a successful case of managing a massive chest wall defect using flexible wire and polypropylene mesh in such a context.
CASE PRESENTATION
A 40-year-old male presented with a gradually enlarging anterolateral chest wall mass, diagnosed as low-grade synovial sarcoma. Imaging revealed involvement of the 6th to 11th ribs with compression of the diaphragm and liver. A multidisciplinary team planned wide-margin excision, chest wall reconstruction, and adjuvant chemoradiation. Using a sternal wire bridge and polypropylene mesh, the 25 cm by 15 cm defect was reconstructed, covered with a latissimus dorsi flap. The patient recovered well postoperatively, highlighting the feasibility of innovative approaches in resource-limited settings.
CLINICAL DISCUSSION
Defects larger than 5 cm or involving over 4 ribs require reconstruction to prevent lung herniation and respiratory issues, especially for anteriorolateral defects. Our case featured a 25 by 15 cm anteriorolateral chest wall defect, necessitating rigid reconstruction. Due to resource constraints, we utilized flexible wires and polypropylene mesh, offering a cost-effective solution for managing massive chest wall defects.
CONCLUSION
This case underscores the challenges faced in managing chest wall tumors in resource-constrained regions and emphasizes the importance of innovative solutions for achieving successful outcomes in chest wall reconstruction.
PubMed: 38503161
DOI: 10.1016/j.ijscr.2024.109496 -
Journal of Neurosurgery. Spine Jun 2024Synovial sarcoma (SS) is a relatively rare type of soft-tissue sarcoma that is commonly treated with surgery, radiation, chemotherapy, and palliative care. Stereotactic... (Review)
Review
OBJECTIVE
Synovial sarcoma (SS) is a relatively rare type of soft-tissue sarcoma that is commonly treated with surgery, radiation, chemotherapy, and palliative care. Stereotactic radiosurgery (SRS) is an emerging approach that shows promise in treating CNS conditions, but it has not been studied for SS. The authors present a systematic review that explores the effectiveness of different treatments, with a focus on SRS, for managing spinal SS.
METHODS
A systematic PubMed search was conducted that covered studies from 1964 to 2022, yielding 70 relevant studies. Inclusion criteria encompassed primary and metastatic spinal SS, various treatment modalities, patient age 17 years or older, English-language studies, retrospective series, and case reports. Based on these criteria, 26 studies were included in this review and 44 were excluded.
RESULTS
Of the included studies, 15 patients from 9 studies were treated with surgical intervention followed by both conventional radiotherapy (RT) and chemotherapy, 10 patients from 10 studies were treated with surgery followed by RT, 5 studies comprising 8 patients were exclusively treated with surgery, 5 cases in 3 studies were treated with surgery plus concomitant chemotherapy, 4 patients in 2 studies were treated with SRS, and only 1 study reported treatment without surgery and with chemotherapy and RT. The median progression-free survival and overall survival periods observed in the SRS-treated patients were 37 months and 60 months, respectively, which were higher than those of any other treatment method or combination used.
CONCLUSIONS
The authors' study offers a thorough review of spinal SS treatments. They are hopeful that this will aid clinicians in informed decision-making for better patient outcomes.
Topics: Humans; Sarcoma, Synovial; Spinal Neoplasms; Radiosurgery; Combined Modality Therapy
PubMed: 38489819
DOI: 10.3171/2024.1.SPINE231184 -
Journal of Medical Case Reports Mar 2024Synovial sarcoma is a rare soft tissue sarcoma, with incidences of 0.81/1,000,000 in children and 1.42/1,000,000 in adults. It is most commonly found in soft tissue and...
BACKGROUND
Synovial sarcoma is a rare soft tissue sarcoma, with incidences of 0.81/1,000,000 in children and 1.42/1,000,000 in adults. It is most commonly found in soft tissue and rarely in bone. It often has a slow growth pattern and a benign radiologic appearance.
CASE PRESENTATION
This study reports a case of metacarpal synovial sarcoma occurring in the hand-wrist of a 32-year-old Iranian man presented with the chief complaint of a lump on the dorsal ulnar side of his left hand and wrist. Initially, the first physician suspected the case to be a ganglion cyst. After two months of conservative treatment, the size of the lesion gradually increased. Magnetic resonance imaging (MRI) was performed and after an excisional biopsy and a postoperative histological analysis, the tumor was identified as a synovial sarcoma. The patient underwent a scheduled surgical procedure. Unfortunately, he had poor follow-ups and brought the pathologic results two months later when, the tumor had incredible growth, which makes this presentation rare.
CONCLUSIONS
Since early diagnosis can lead to higher survival rates, this report increases doctors' awareness of this extremely malignant tumor that is rarely seen.
Topics: Adult; Humans; Male; Hand; Iran; Sarcoma; Sarcoma, Synovial; Ulna
PubMed: 38486309
DOI: 10.1186/s13256-024-04469-4 -
Pathologica Feb 2024Small series and individual cases of penile soft tissue tumours are reported in the literature: these are rare tumours that represent less than 5% of all penile tumours.
OBJECTIVE
Small series and individual cases of penile soft tissue tumours are reported in the literature: these are rare tumours that represent less than 5% of all penile tumours.
METHODS
Penile soft tissue tumours were collected from the archive of the Department of Pathology at the Istituto Nazionale dei Tumori of Milan between January 1990 and October 2021. All available medical records were retrieved and reviewed to obtain clinical information.
RESULTS
Our series refers to the 30-year experience of highlighting the heterogeneity in the presentation and microscopic features of these rare sarcomas. 18 penile soft tissue tumours are described, 4 benign and 14 malignant. The mean age at diagnosis was 58.2 years (range 24-96 years) and 53.6 years among malignancies (range 24-89). The most frequent histotype was Kaposi's sarcoma (nr = 4) and very unusual histotypes were observed, namely low-grade fibromyxoid sarcoma, synovial sarcoma, proximal type epithelioid sarcoma and the first reported case of dedifferentiated liposarcoma of the penis.
CONCLUSIONS
Among sarcomas of the genitourinary tract, tumours of the soft tissues of the penis are the rarest. Penile sarcomas can present at a young age. Kaposi's sarcoma in HIV-negative patients has a favorable outcome, while deep sarcomas have an aggressive behavior and poor prognosis.
Topics: Male; Humans; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Sarcoma, Kaposi; Penile Neoplasms; Sarcoma; Soft Tissue Neoplasms; Penis
PubMed: 38482674
DOI: 10.32074/1591-951X-953