Table 3 - uploaded by David Parham
Content may be subject to copyright.
![Translocations reported in ESFT [22, 67, 68].](publication/47567292/figure/tbl2/AS:669711893266438@1536683166228/Translocations-reported-in-ESFT-22-67-68.png)
Source publication
![Table 3 : Translocations reported in ESFT [22, 67, 68].](publication/47567292/figure/tbl2/AS:669711893266438@1536683166228/Translocations-reported-in-ESFT-22-67-68_Q320.jpg)
Over the past three decades, the outcome of Ewing sarcoma family tumor (ESFT) patients who are nonmetastatic at presentation has improved considerably. The prognosis of patients with metastatic disease at the time of diagnosis and recurrence after therapy remains dismal. Drug-resistant disease at diagnosis or at relapse remains a major cause of mor...
Contexts in source publication
Context 1
... general, tumors lacking genetic confirmation and signs of specific differentiation are termed "undifferentiated sarcomas" and are currently treated as nonrhabdomyosarcomatous soft tissue sarcomas by the Children's Oncology Group (COG) [63]. Table 3). In 99% of cases, molecular fusions of ESFT involve the EWS gene (also known as EWSR1; located on chromosome 22) and a mem- ber of the ETS family of transcription factors, which includes FLI1 (on chromosome 11) and ERG (in chromosome 21). ...
Similar publications
A 7-year-old male with poststreptococcal glomerulonephritis (PSGN) developed hemolytic uremic syndrome (HUS) and achieved
remission. He was treated with eculizumab for 1 year. The eculizumab was discontinued and the patient remained in remission.
This is the 10th reported case of PSGN associated with HUS. The histopathological feature observed at t...
Several lines of evidence support the relevance of microRNAs in both adrenocortical and adrenomedullary (pheochromocytomas) tumors. Significantly differentially expressed microRNAs have been described among benign and malignant adrenocortical tumors and different forms of pheochromocytomas that might affect different pathogenic pathways. MicroRNAs...
Citations
... Microscopically, classical (typical) ES is the undifferentiated small round cell tumor, composed sheets of monotonous round or oval cells with primitiveappearing nuclei and moderate amount of clear amphophilic cytoplasm. The characteristics of the prototypic ES are those of primitive uncommitted cell, that is an oval with smooth contours, single inconspicuous nucleoli, finely dispersed chromatin [12]. >80 % of the cases exhibit high CD99 expression. ...
Introduction
Primary chest wall tumors arise from muscle, fat, blood vessels, the nerve sheath, cartilage, or bone of the chest wall. One of the chest wall sarcomas is Ewing Sarcoma (ES), first described in 1921 by James Ewing, which is a highly aggressive bone and soft-tissue cancer. This case report aimed to present an Ewing Sarcoma with intra thoracic and multiple extra thoracic metastases in young adult male patient.
Presentation of case
We describe a unique case of metastatic of ewing's sarcoma in a 23-year-old male that showed a mass on the right lower posterior lung with pleural effusion, which was initially thought to be lung tumor that metastasized to the pleura. A thoracic CT scan showed a lobulated soft tissue mass on the right posterolateral thoracic wall, or pleura, with an expansion of soft tissue mass on the rib. Thoracal MRI showed tumor in the posterior right lower thoracic wall area, metastases of the left lateral rib, and right pleural effusion with atelectasis in the right inferior lobe of the lung. The patient also underwent a bone scan, scheduled for palliative radiotherapy and chemotherapy, and consulted to oncology surgeon.
Discussion
Ewing sarcoma is a small, round, blue-cell mesenchymal malignancy. ES mainly affects children, adolescents, and young adults, with >1.5 cases per million children. Males are slightly more affected than females (sex ratio of 3:2). The definitive diagnosis requires biopsy proof (achieved by fine needle or core biopsy). The most common regions of metastasis are the lungs, pleural cavity, skeletal system, bone marrow, or combinations of these.
Conclusion
The 5-year survival rate is approximately 70 % when there is no metastasis; this rate falls to around 30 % when metastasis is present.
... Immunohistochemistry plays a crucial role in confirming the diagnosis, with CD99, FLI-1, and NKX2.2 showing high specificity for ES. Ewing sarcoma family of tumors (ESFT) are typically diagnosed using CD99 and FLI-1; an immunohistochemical panel with at least these two markers is advised [9] . Positive results for these markers were evident on immunostaining in our case. ...
This case report describes a 32-year-old Pakistani male patient with an Ewing sarcoma (ES) of the adrenal gland. Presenting complaints were abdominal distention, pain, low-grade fever, and weight loss. Initial studies, including imaging and tumor markers, ruled out any other possible origins of the mass. A percutaneous biopsy verified the tumor's neuroendocrine origin. Extensive involvement of nearby anatomical structures was discovered through exploratory laparotomy, rendering total resection difficult. Based on the presence of malignant, round, blue cells that were positive for specific immunostaining markers, the histopathology report supported the diagnosis of an ES with a staging of T3N0M0. Chemotherapy, in accordance with the VAC-IE protocol, was administered after debulking surgery. Subsequent imaging and close monitoring revealed no metastatic or residual tumors. Adrenal ES is an uncommon, aggressive tumor that mandates prompt diagnosis and management. This case report highlights the value of early detection and multimodal therapy in enhancing patient outcomes for this rare malignancy.
... The histology of ESFT can be described as "classical", "atypical", or "variant" (8).These tumors consist of primitive-appearing round cells with high nucleus-to-cytoplasm ratios. The immunohistochemical features of ES/PNET are positive for CD99 (a 32-kDa cell surface glycoprotein encoded by the MIC2 gene); however, expression of CD99 is by no means specic for ES/PNET among round-cell tumors. ...
Extraosseous Ewing's sarcoma (EES) is a malignant mesenchymal tumor much rarer than its intraosseous counterpart. Few case reports of EES have been published in the literature. Only one in ve cases of Ewing's sarcoma occurs as Extraskeletal. The use of magnetic resonance imaging helped diagnose, plan procedural interventions, assess neoadjuvant chemotherapy effectiveness, and detect local recurrences and metastatic spread of the tumor. Immunohistochemical markers further differentiated the diagnoses. EES should be considered when evaluating soft tissue lumps of neoplastic characteristics, in children or adolescents. Early detection of EES is essential.
... Some of these factors have been already associated with NETs and tumor progression in several types of cancers.[24][25][26] These factors could be responsible for elevated NETs also in patients with EWS, and we aim to investigate whether they might serve as new therapeutic targets in EWS.Interestingly, traditional prognostic factors for patients with EWS focus on the pathobiological markers of the tumor without consideration of the tumor microenvironment.27 The close association between malignancy and the immune system is well recognized. ...
Ewing sarcoma (EWS) is a highly aggressive cancer with a survival rate of 70%-80% for patients with localized disease and under 30% for those with metastatic disease. Tumor-infiltrating neutrophils (TIN) can generate extracellular net-like DNA structures known as neutrophil extracellular traps (NETs). However, little is known about the presence and prognostic significance of tumor-infiltrating NETs in EWS. Herein, we investigated 46 patients diagnosed with EWS and treated in the Tel Aviv Medical Center between 2010 and 2021. TINs and NETs were identified in diagnostic biopsies of EWS by immunofluorescence. In addition, NETs were investigated in neutrophils isolated from peripheral blood samples of EWS patients at diagnosis and following neoadjuvant chemotherapy. The relationships between the presence of TINs and NETs, pathological and clinical features, and outcomes were analyzed. Our results demonstrate that TIN and NETs at diagnosis were higher in EWS patients with met-astatic disease compared with those with local disease. High NET formation at diagnosis predicted poor response to neoadjuvant chemotherapy, relapse, and death from disease (p < 0.05). NET formation in peripheral blood samples at diagnosis was significantly elevated among patients with EWS compared with pediatric controls and decreased significantly following neoadjuvant chemotherapy. In conclusion, NET formation seems to have a role in the EWS immune microenvironment. Their presence can refine risk stratification, predict chemotherapy resistance and survival, and serve as a therapeutic target in patients with EWS.
... Small round blue cells, a feature found in ESFT, are not unique to this tumor and can also be observed in other malignancies such as lymphoma and rhabdomyosarcoma [8]. The diagnosis of ESFT hinges on distinct immunohistochemical staining patterns and cytogenetic or molecular tests [10]. Notably, ESFT is characterized by strong membranous CD99 positivity, a cell surface glycoprotein that, although prevalent in ESFT, is not exclusive to it. ...
... Molecular confirmation techniques, such as fluorescence in-situ hybridization or next-generation sequencing, have become commonplace, mainly due to the presence of EWSR1 rearrangements in approximately 90% of ES cases [11]. This translocation joins the EWSR1 gene on chromosome 22 with the FLI1 gene on chromosome 11 (t(11;22)(q24;q12)), creating the EWSR1-FLI1 fusion product, known for its oncoprotein functions [8,10,11]. The presence of a positive CD99 in IHC, combined with the EWSR1 gene rearrangement, as seen in our patient, confirms the diagnosis of ES and distinguishes it from its mimickers. ...
Ewing sarcoma (ES) is primarily recognized as a primary bone tumor; however, its extraosseous variant is exceptionally rare and presents unique clinical challenges. In this article, we report the case of a 22-year-old male who initially presented with abdominal swelling. Diagnostic tests included abdominal imaging and a CT scan, revealing a solid liver mass. A thorough evaluation confirmed it to be an extraosseous ES, supported by liver biopsy and immunohistochemistry demonstrating positive expression for AE1/AE3 and CD-99, along with genetic analysis revealing a rearrangement of the EWSR1 gene (translocation 22q12). The patient’s treatment involved a multimodal approach, including perioperative chemotherapy, surgery, and postoperative chemotherapy, following which the patient remained in complete remission after 24 months. This case emphasizes the importance of considering rare malignancies such as ES in differential diagnoses for young patients with liver masses. It also accentuates the pivotal role of family physicians in early detection and holistic patient care, underscoring the need for comprehensive investigations when encountering persistent symptoms.
... Pelvic EES has no specific radiological charac teristics; the final diagnosis of pelvic EES is confirmed by characteristic features on histologic analysis, histochemistry, and Immunohistochemistry [4,5]. ...
Ewing’s sarcoma (ES) is a malignant tumor that arises mainly from bone tissue. Primary extraosseous Ewing sarcoma (EES) is a rare form of the Ewing’s sarcoma family of tumor, and pelvic localization is even more unusual, considered to be one of the rarest localizations [1]. We present the case of a seven-year-old boy with persistent abdominal pain. Ultrasound (US), contrast-enhanced computed tomography (CECT), and magnetic resonance imaging (MRI) revealed the presence of a large, solid, and heterogeneous mass in the pelvis. The histological and immunohistochemistry were compatible with pelvic EES.
Teaching point: Extraosseous Ewing’s sarcoma is a rare pediatric tumoral entity that requires clinician and radiological vigilance and detection.
... Ewing's sarcoma (ES) mainly occurs in bones or surrounding tissues (1) and is prevalent in children and adolescents, with an incidence of 1/1.5 million (2). According to scientific researches, the age of ES patients mostly ranges from 15 to 20, with males being the susceptible group (3). ...
N6-methyladenosine (m6A) modifications are considered key mechanisms in cancer. As an m6A-modified lncRNA, MALAT1 is associated with tumor progression. In this study, the MALAT1/miR-124-3p/CDK4 axis was studied to discover METTL3's effects on Ewing's sarcoma (ES). For this purpose, clinical ES samples were collected and ES cells were cultured to detect gene expression. Then, the interlink between METTL3, MALAT1, miR-124-3p, and CDK4 was studied and confirmed, and m6A modification of MALAT1 was determined. Finally, the Transwell method was used to test migration and invasion. Results showed that ES samples expressed low miR-124-3p and high METTL3, MALAT1 and CDK4. METTL3 elevated MALAT1 expression by m6A modification. MALAT1 enhanced CDK4 expression by competing with miR-124-3p. In ES cells, METTL3 silencing repressed cell migration and invasion by inhibiting MALAT1. In conclusion, METTL3 promotes tumorigenesis of ES through the MALAT1/miR-124-3p/CDK4 axis.
... Extraosseous Ewing sarcoma (EES) and intraosseous Ewing sarcoma (IES) are aggressive tumours that belong to the Ewing sarcoma family of tumours (ESFT) [87]. These sarcomas share a common neuroectodermal histology and genetic profile [37,[87][88][89][90][91][92]. ...
... Extraosseous Ewing sarcoma (EES) and intraosseous Ewing sarcoma (IES) are aggressive tumours that belong to the Ewing sarcoma family of tumours (ESFT) [87]. These sarcomas share a common neuroectodermal histology and genetic profile [37,[87][88][89][90][91][92]. Originally, IES, EES, and primitive neuroectodermal tumour (PNET) were thought to be distinct tumours. ...
... For instance, 'Homer Wright' rosettes of oval nuclei around a fibrous core identified on histology are characteristic of PNET, but not IES or EES [93,94]. Discovery that the vast majority of ESFT are defined by the same chromosomal translocations involving the EWSR gene (e.g., t(11;22) (q24;q12) or t(21;22) (q22;q12)) confirmed a common genetic origin of these tumours, suggesting that PNET is a more differentiated version of classical ESFT [87]. It is now known that 95% of ESFT harbour a characteristic EWSR1-FLI1 fusion gene (85%) or less commonly EWSR1-ERG (5-10%) [87,95,96] that can be detected by fluorescence in situ hybridization (FISH) or reverse-transcriptase polymerase chain reaction (RT-PCR) [37,92]. ...
With the exception of well-differentiated liposarcoma, dedifferentiated liposarcoma, leiomyosarcoma, solitary fibrous tumour, malignant peripheral nerve sheath tumour, and undifferentiated pleomorphic sarcoma, the majority of the ≈70 histologic subtypes of retroperitoneal sarcoma are defined as ‘ultra-rare’ sarcomas, with an incidence of ≤1–5/1,000,000 persons/year. For most of these ultra-rare RPS subtypes, diagnosis and treatment follows international guidelines for the management of more common RPS histologies, with en bloc surgical resection as the mainstay of curative treatment, and enrolment in clinical trials where possible. Because the treatment of RPS is heavily driven by histology, the surgeon must be familiar with specific issues related to the diagnosis and management of ultra-rare sarcoma subtypes. Expert radiological and surgeon reviews are required to differentiate similarly presenting tumours where surgery can be avoided (e.g., angiomyolipoma), or where upfront systemic therapy is indicated (e.g., extraosseous Ewing’s sarcoma). Thus, the management of all retroperitoneal sarcomas should occur at a sarcoma referral centre, with a multidisciplinary team of experts dedicated to the surgical and medical management of these rare tumours. In this focused review, we highlight how diagnosis and management of the ultra-rare primary RPS histologies of malignant perivascular epithelioid cell tumour (PEComa), extraosseous Ewing sarcoma (EES), extraosseous osteosarcoma (EOS), and rhabdomyosarcoma (RMS) critically diverge from the management of more common RPS subtypes.
... Approximately 95% of patients with these mesenchymal neoplasms have chromosomal translocations that lead to gene fusion. Historically James Ewing first described diffuse hemangioendothelioma of bone in 1921 [5][6][7]. EES accounts for 20-30% of all ESFT that was first described by Tefft et al. in 1969 [1, 2, 5]. Here we highlight the first case of Ewing sarcoma of the rectum in our region and the second case worldwide [8]. ...
Introduction: Extraskeletal Ewing’s sarcoma (EES) is a rare malignant soft tissue tumor. Those aggressive mesenchymal tumors are characterized by genetic alterations of the Ewing sarcoma gene (EWS) on chromosome 22. Signs and symptoms are usually non-specific. The clinical diagnosis of EES is challenging. Case Presentation: A 31-year-old female patient presented to our hospital with rectal bleeding. Physical examination revealed a painful and erythematous bleeding rectal mass. A pelvic MRI revealed a right-sided well-circumscribed perianal mass measuring 6.8 × 6.0 cm. Surgical excision of the rectal mass was subsequently performed. The resected specimen, including the rectal mass with a pedicle from the posterior rectal wall was sent for histopathological examination. The postoperative period was uneventful. Histopathology examination was suggestive of EES of the rectum. Clinical Discussion: EES is an unusual entity of Ewing's Sarcoma Family of Tumors, which are characterized by pathognomonic translocations. The clinical features of EES include localized pain and/or swelling. Diagnosis of EES relies on histopathology and immunohistochemistry analysis. Imaging modalities such as CT, MRI, and PET/CT are crucial to evaluate EES metastasis and assess local tumor resectability. Conclusion: Due to the rare entity of EES of the rectum, we report the case of a 31-year-old female with rectal bleeding, found to be rectal Ewing’s sarcoma.
... Approximately 95% of patients with these mesenchymal neoplasms have chromosomal translocations that lead to gene fusion. Historically James Ewing first described diffuse hemangioendothelioma of bone in 1921 [5][6][7]. EES accounts for 20-30% of all ESFT that was first described by Tefft et al. in 1969 [1, 2, 5]. Here we highlight the first case of Ewing sarcoma of the rectum in our region and the second case worldwide [8]. ...
