Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases.

Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categories: osseous and extraosseous, which mainly affects adolescents. Extraosseous Ewing Sarcomas (EES) are rare tumors originating from soft tissues. Their clinical presentation depends mainly on the primary location of the tumor and are highly chemosensitive and radiosensitive. The purpose of this study was to describe the clinical characteristics and outcomes of 3 children with EES and uncommon presentation treated in our Unit. The diagnosis of EES was confirmed by biopsy and cytogenetic analysis with fluorescence in situ hybridization (FISH). Surgical excision was planned as primary treatment, followed by adjuvant chemotherapy according to EURO-E.W.I.N.G protocol. To date, all patients are alive, 1, 3 and 4 years after completion of treatment, with no signs of recurrence or metastasis.

Ewing's sarcoma of the male external genitalia: a case report and review of the literature.

BACKGROUND: Ewing's sarcoma (ES) within the genitourinary tract are relatively unheard of and those within the external male genitalia are even rarer. To our knowledge, this is the first known case of primary ES within the paratesticular region in an adult. CASE PRESENTATION: We present a case of a 24-year-old man with a right sided testicular mass on examination that was initially characterized as an adenomatoid tumor on ultrasound. After the patient was lost to follow up over the course of 9 months, the testicular mass grew significantly and was excised with pathology revealing primary paratesticular Ewing's sarcoma. This rare case emphasizes the importance of elucidating between the broad differentials of paratesticular masses, including the rare presentation of primary ES and adds a review of the literature of ES in the external male genitalia. CONCLUSIONS: Rare differentials such as this case should be considered in patients with paratesticular masses. Further diagnostic and management algorithms for extraosseous Ewing Sarcoma, particularly in the adult population, are warranted.

Extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour of the kidney: a case report and literature review.

BACKGROUND: Extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumours(EWS/pPNETs) of the kidney are rare. Signs and symptoms are atypical in EWS patients. Presenting symptoms include haematuria, abdominal pain, or a palpable mass. A comprehensive review of the literature shows that it is difficult to make an accurate diagnosis based on physical examination alone. The imaging findings of EWS/pPNETs are nonspecific. We used contrast-enhanced ultrasound (CEUS) to diagnose an EWS/pPNET in our patient, which had never been reported previously to our knowledge. CASE PRESENTATION: This article reports the case of a 20-year-old female with an abdominal mass and gross haematuria for 1 month. The ultrasound revealed a hypoechoic mass with a clear margin at the lower pole in the left kidney. CEUS demonstrated signs of annular enhancement and heterogeneous enhancement of the tumour, and simultaneous wash-in was predominant. Computed tomography images showed an elliptical low-density tumour. The patient underwent a left kidney resection, and the pathological diagnosis was an EWS/pPNET. Twenty-one days after the kidney operation, the patient underwent 8 cycles of a CAV (vinorelbine, ifosfamide, epirubicin) + IE (isocyclophosphamide, etoposide) chemotherapy regimen. Subsequently, radiotherapy (dose: 45 Gy, radiation field:the tumour bed following surgical resection) was administered for nearly 30 days. The patient had no signs of local recurrence or metastasis within a follow-up of 4 years. CONCLUSIONS: As a radiation-free, inexpensive, convenient, and repeatable examination method, ultrasound was the primary choice for kidney examination. Early CEUS was helpful to make an accurate diagnosis. Surgery and adjuvant radiation or chemotherapy administered in a timely manner can prevent further deterioration.

[The Ultrasonographic Features of Female Reproductive System Extraosseous Ewing's Sarcoma].

OBJECTIVE: This study investigated the clinicopathological traits and ultrasound features of female reproductive system extraosseous Ewing's sarcoma (EES) and explored the diagnostic value of ultrasonography for this condition. METHODS: Cases of female pelvic EES diagnosed and treated at our hospital between June 2009 and June 2019 were included in this study. Pathology data and ultrasound manifestations were assessed retrospectively to summarize the clinical traits and ultrasound features of female reproductive system EES. Based on the results, recommendations for the ultrasonography-based diagnosis of this disease were proposed. RESULTS: During the 10-year study period, 13 female patients were diagnosed with EES in the pelvic cavity based on the results of postoperative pathology tests. The age of the patients ranged from 8 mouth to 40 years, and no patients demonstrated specific clinical symptoms. However, an examination of tumor biomarkers revealed that certain patients had elevated levels of CA125. In the 13 patients, 19 lesions were identified, including 16 that involved the reproductive system. The primary ultrasound manifestation was uneven, low-echo solidity or cystic solidity, exhibiting large size, irregular shape, and unclear boundary. A few patients had concurrent ascites. Although some lesions lacked blood supply, the blood supply of most lesions was medium to abundant, and the blood flow was mostly characterized by low resistant. Almost none of the lesions were definitively diagnosed preoperatively. CONCLUSIONS: Preoperative definitive diagnosis of EES in the female reproductive system remains a great clinical challenge. Although certain clinical traits and ultrasound features are associated with this disease, and color Doppler ultrasonography might provide vital information indicating the presence of EES, the final diagnosis still depends on the pathological test results of the patients.

Ewing Sarcoma Presenting as a Congenital Scalp Mass.

Ewing sarcoma is a locally aggressive, highly malignant tumor most commonly seen in the skeletal system. The "Ewing family of tumors" also includes other tissue types that are not common, such as soft tissue origin classified as extraosseous Ewing sarcoma (EES) or primitive neuroendocrine origin. Age of onset most often occurs within the first 2 decades of life. Congenital presentation of EES is exceedingly rare. We report the first described case to our knowledge of congenital EES originating from the scalp.

Primary intradural Extraosseous Ewing's sarcoma of the cauda equina: A case report and literature review.

Intradural Extraosseous Ewing sarcoma (IEES) is an infrequent occurrence. We report a case of a 66-year-old male who presented with a 2-month history of low back pain and bilateral S1 sciatica, with acute sphincter dysfunction. Imaging studies revealed an intradural extramedullary lesion in the cauda equina spanning from level L4 to S1. The patient underwent partial removal of the intradural lesion. Histopathological examination showed the presence of small round cells, which were consistent with Ewing Sarcoma. The patient was then treated with targeted radiation therapy and chemotherapy. The rarity of IEES in this specific location underscores the significance of evaluating and managing patients with intradural spinal tumors with careful consideration of this diagnosis. To further investigate this condition, we conducted a thorough review of the literature on IEES involving the lumbar spine and cauda equina. Our analysis revealed that patients with this condition frequently exhibit rapidly progressive neurological symptoms likely attributed to hemorrhagic transformation. This characteristic may serve as a distinguishing factor from other lesion types, particularly benign ones. Our study provides a comprehensive summary that can offer direction for clinical management in comparable uncommon and novel cases.

Primary Ewing's sarcoma of the uterine cervix: a case report and review of the literature.

BACKGROUND: Ewing's sarcoma (ES) is an aggressive cancer of bone and soft tissue, most of which tend to occur in the bone. Extraosseous Ewing's sarcoma (EES) of the cervix is extremely rare. CASE PRESENTATION: In the present work, we reported a 39-year-old cervical EES patient with a 2.5*2.1*1.8 cm tumor mass. According to previous literatures, our case is the smallest tumor found in primary cervical ES ever. The patient initially came to our hospital due to vaginal bleeding, and then the gynecological examination found a neoplasm between the cervical canal and partially in the external cervical orifice. The diagnosis of EES was confirmed below: Hematoxylin & Eosin staining (H&E) revealed small round blue malignant cells in biopsy specimens. Immunohistochemistry (IHC) showed the positive staining for CD99, NKX2.2, and FLI1. Disruption of EWSR1 gene was found by fluorescence in situ hybridization (FISH), and the EWSR1-FLI1 gene fusion was determined by next-generation sequencing (NGS). The patient received laparoscopic wide hysterectomy, bilateral adnexectomy, pelvic lymphadenectomy, and postoperative adjuvant chemotherapy and remained disease free with regular follow-up for 1 year. CONCLUSIONS: Through a systematic review of previously reported cervical ES and this case, we highlighted the importance of FISH and NGS for the accuracy of ESS diagnosis, which could assist on the optimal treatment strategy. However, due to the rarity of the disease, there is no standard treatment schemes. Investigation on molecular pathological diagnosis and standardization of treatment regimens for cervical ES are critical to patients' prognosis.

Primary Ewing's sarcoma of the intestine: case report and literature review.

Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumor is a highly aggressive malignant tumor that typically presents in bone and soft tissue. Primary ES of the intestine is relatively rare, which poses a challenge in distinguishing it from other primary tumors of the small intestine through imaging. This article details a case study of ES originating in the intestine. Computed tomography (CT) imaging suggested a small intestinal stromal tumor, and so the patient underwent resection of the small bowel and omental tumor. Pathology results confirmed the diagnosis of ES of the small intestine. Following surgery, the patient underwent six cycles of chemotherapy, and a follow-up positron emission tomography-CT revealed widespread dissemination of the disease with intraperitoneal metastasis, ultimately resulting in the death of the patient.

Primary Ewing's Sarcoma of the Kidney Mimicking Renal Cell Carcinoma With Widespread Metastasis: A Case Report and a Brief Review of the Literature.

Ewing's sarcoma family of tumors (ESFTs) are a group of small round cell tumors with common morphological and genetic features, including Ewing's sarcoma of bone, primary extra-skeletal Ewing tumors, extraosseous Ewing sarcoma (EES), and Askin tumors. EES presenting as a primary renal mass is an exceedingly uncommon aggressive tumor with limited reported cases in the literature and often mimics other renal malignancies on imaging. We present a case of a 31-year-old man presenting with left flank pain and abdominal fullness of short duration. Radiological imaging studies showed a large heterogenous mass from the left kidney, confirmed to be Ewing's sarcoma on post-operative histopathological examination (HPE) and immunohistochemistry (IHC) studies. Subsequent follow-up showed extensive metastatic disease. EES of the kidney has a nonspecific presentation and imaging appearance necessitating a multi-disciplinary approach comprising radiological imaging with a high index of suspicion, HPE, IHC, and molecular analysis for the correct diagnosis.

Extraosseous Ewing Sarcoma With Upper Gastrointestinal Bleeding.

Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is a type of malignancy that usually appears as a tumor in the bone. However, in a few patients with ES/PNET, it can occur outside of the bone. Although extraosseous ES/PNET can appear in various parts of the body, involvement of small bowel is rare. If it does, it can present with vague abdominal pain and gastrointestinal bleeding. This case report presents a 28-year-old gentleman with extraosseous ES/PNET in the duodenum who experienced gastrointestinal bleeding as a presenting symptom.

Unveiling the Uncommon: A Case of Metastatic Ewing Sarcoma of the Kidney.

Primary Ewing sarcoma of the kidney (ESK) is a rare and aggressive entity, with a poor prognosis. It often presents as metastatic disease with the lungs being the most common site. In adults, the occurrence of these tumors is uncommon, with patients exhibiting non-specific symptoms such as weight loss, flank pain, hematuria, and an abdominal mass. The combination of these vague clinical symptoms and the rarity of these tumors often results in a delayed diagnosis, leading to poorer outcomes for these patients. We present a case of a 38-year-old female with metastatic ESK. The patient initially presented with abdominal pain, vomiting, and a four-day history of constipation. The diagnosis was confirmed through computed tomography scans, ultrasound-guided biopsy of the lesion, and fluorescence in situ hybridization that revealed translocation of the EWS gene on chromosome 22q12. She was managed with chemotherapy regimens and palliative care; however, the disease progressed and she passed away six months after her initial diagnosis.

Rare Presentation of Primary Pleural Ewing Sarcoma With a Mass Extending Into the Right Ventricle: A Case Report.

Primary pleural Ewing sarcoma is a rare type of Ewing sarcoma with only a few case reports identified in the literature. The condition is challenging to diagnose with deceiving symptoms and wide differential diagnosis. Diagnosis is confirmed with a combination of radiological and pathological assessment. Treatment is similar to other types of Ewing sarcoma with chemotherapy and surgery being the mainstay of treatment. We identify an unusual presentation of pleural Ewing sarcoma in a 31-year-old male with a mass extending into the right ventricular outlet causing rapid deterioration of the patient.

Extraosseous Ewing Sarcoma in a 28-Year-Old Male: A Case Report and Literature Review.

Ewing sarcoma (ES) is an uncommon and highly aggressive bone malignancy that predominantly occurs in children and young adults. Extraosseous Ewing sarcoma (EES), an even rarer variant, can present in the soft tissues instead of bone. In this case report, we detail a previously healthy 28-year-old male presenting with an isolated enlarged left inguinal lymph node, subsequently diagnosed as EES. The patient presented with a three-month history of a non-tender, gradually enlarging lump in the left groin. Fine needle aspiration revealed a small round blue cell tumor with a high Ki-67 score, and subsequent excisional biopsy identified a rare genetic fusion mutation. Postoperative positron emission tomography (PET)/computed tomography (CT) scan did not show any fludeoxyglucose F18 (FDG) uptake lesions to suggest residual malignancy. The patient is currently awaiting chemotherapy. Throughout the discussion of this case, we highlight the importance of considering EES in the differential diagnosis of isolated lymph node enlargement, the role of genetic testing in diagnosis, and the treatment modalities offered.

Ewing's sarcoma of the parotid gland: A rare entity with review of the literature.

Background: Ewing's sarcoma is a rare malignant entity. Extraosseous Ewing's sarcoma (EES) of the head and neck region is a rare occurrence, and Ewing's sarcoma of the parotid gland is even rarer. To the best of our knowledge, we reported the first case of extraskeletal ES originating from the parotid gland in the Tunisian literature. Case report: We report a rare case of EES of the parotid gland in a 35-year-old female. She presented with left parotid tumefaction. Physical examination revealed solid and fixed mass associated with facial paralysis. Magnetic resonance imaging illustrated a left intra-parotid process occupying the entire gland measuring 42 mm infiltrating the masseter and pterygoid muscles. The patient had a total left parotidectomy with ipsilateral triangular lymph node dissection. The definitive pathological examination and the immunohistochemical staining confirmed a primary peripheral neuroectodermal tumor or PNET with the presence of a specific EWING/PNET-type translocation in 60% of the tumor cells. She had an adjuvant chemotherapy (four cycles of vincristine, doxorubicin, cyclophosphamide alternating with ifosfamide and etoposide) followed by external radiotherapy. Conclusion: A clinical and radiological follow-up by cervical MRI was done every 3 months and The 10-month follow-up showed no locoregional and distant recurrence.

Introduction: Le sarcome d'Ewing est une entité maligne rare. La localisation extra osseuse en particulier la région de la tête et du cou est caractérisée par son agressivité locorégionale. Nous rapportons le cas d'un sarcome d'Ewing de la parotide. A notre connaissance, il s'agit du premier cas rapporté dans la littérature tunisienne. Presentation du cas: Il s'agit d'une femme âgée de 35 ans qui a consulté initialement pour une tuméfaction au niveau de la glande parotide gauche. L'examen clinique a révélé une masse sous angulomandibulaire associée à une paralysie faciale périphérique gauche. Une IRM parotidienne a objectivé un processus intra-parotidien gauche occupant l'entièreté de la glande mesurant 42 mm mal limitée infiltrant modérément le muscle masséter et ptérygoïdiens. Le bilan d'extension était sans anomalie. La patiente a eu une parotidectomie gauche large avec un curage triangulaire homolatéral. L'examen anatomopathologique définitif et l'étude par hybridation in situ en fluorescence (FISH) ont confirmé la présence d'une translocation spécifique type EWING/PNET dans 60% des cellules tumorales. La patiente a été traitée par une chimiothérapie type VDC/IE (vincristine, doxorubicine, cyclophosphamide en alternance avec ifosfamide, et etoposide) suivie d'une radiothérapie externe. Un suivi clinique et radiologique trimestrielle n'a montré aucune récidive locorégionale ni à distance à ce jour soit à 10 mois de recul. Conclusion: Une surveillance clinique et radiologique trimestrielle a été faite et le contrôle à 10 mois n'a pas montré de récidive locorégionale ou à distance.

Extra-skeletal Ewing's sarcoma of the leg with multiple skeletal and pulmonary metastases: A rare pediatric case report.

Being the second most common malignant bone tumor in children and young adults, Ewing's sarcoma can also occur as a primary soft-tissue tumor called extraosseous or extra-skeletal Ewing's sarcoma. It is a rare entity, especially in the pediatric population. We report the case of an adolescent who presented to our department for lower extremity magnetic resonance imaging to explore leg swelling. It revealed an extra-skeletal Ewing's sarcoma with multiple bone metastases. By reporting this case, we also review the literature on this rare abnormality.

Clinicodemographic characteristics of extraosseous ewing sarcoma: A comparative meta-analysis of pediatric and adult patients.

Background: Evidence suggests different presentation patterns and prognosis of extraosseous Ewing Sarcoma (EES) based on age. Thus, we carried out this study to test the difference between children and adult EES cases regarding clinicodemographic characteristics and prognosis. Methods: A total of 4 databases were explored yielding 18 relevant studies for data synthesis. Outcomes included the comparison of demographic and clinical characteristics as well as prognosis between children and adults with EES. Log odds ratio (logOR) and its 95% confidence interval (CI) were pooled across studies. Statistical models/methods were selected based on heterogeneity. Results: Our analysis included a total of 1261 children and 1256 adults. When we compared these two age categories, we did not observe a significant difference in the risk of developing EES [logOR = -0.13; 95% CI: -0.65: 0.39; I2 = 88.42%]. No significant differences regarding gender, tumor location, and size (≤5 vs. >5 cm), EWSR1 positivity, or management modality. We did not observe significant difference regarding clinical outcomes, such as 5-year overall survival and event-free survival, recurrence, mortality, no evidence of disease, and secondary metastasis. Conclusions: Our findings highlight the absence of an association between the age category of patients and the incidence of EES, as well as its clinical outcomes.

Extraosseous Ewing sarcoma in the fossa jugular: A rare case report.

Background: Extraosseous Ewing sarcoma (EES) is a rare case that accounts for 20% of Ewing sarcoma cases. EES is the second most prevalent pediatric malignancy after peripheral primitive neuroectodermal tumors. EES mostly arise from soft tissue and extra-skeletal. Computed tomography (CT) and magnetic resonance imaging (MRI) are primary modalities for determining tumor location, characteristics, type, and extent of tumors. In addition, for presurgical management, radio intervention with arterial embolization is needed as a preoperative. Case Description: We present a case of a 15-year-old boy diagnosed with EES. He had a "horn-like" tumor that grew progressively on his right ear over 5 months. Head CT scan and MRI were conducted to assess the extent. Embolization was performed before surgery. The surgery was conducted to excise the tumor radically. The histology pathology examination showed EES. Conclusion: EES rarely occurs in the head and neck. This may manifest as a solid mass with bleeding components that destroy the nearby bones, with exophytic mass. Imaging is important for early finding and detecting complications of EES.

Practical Management of Adult Ultra-Rare Primary Retroperitoneal Soft Tissue Sarcoma: A Focus on Perivascular Epithelioid Tumours and Extraosseous Ewing Sarcoma.

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.

Ewing's Sarcoma of the Hand: An Unusual Presentation in a Young Hispanic Male.

Ewing's sarcoma is a neuroectodermal malignancy classically associated with innocuous and chronic symptomatology. Although tumors typically involve the axial skeleton, some malignancies may be confined to extraosseous tissue only. This report presents the case of a 15-year-old Hispanic male with a tender, slow-growing mass of seven months in the subcutaneous tissue of the right hand. Core needle biopsy and fine needle aspiration confirmed the diagnosis of high-grade extraosseous Ewing's sarcoma and the patient was treated via surgical resection and chemotherapy. Nonspecific findings of Ewing's sarcoma may mimic infection or trauma and contribute to a delay in diagnosis. However, social and economic influences including limited English proficiency and insurance status also critically affect the timing of presentation.

An institutional review of treatment outcomes in extraosseous Ewing's sarcoma- the largest Asian experience.

PURPOSE: To analyze the treatment strategies, outcomes and factors impacting these outcomes in extraosseous ewings sarcoma (EOES). MATERIAL AND METHODS: A search of the hospital database yielded a total of 109 EOES patients registered in last 10 years out of which 25 patients were excluded from analysis due to incomplete medical records. Demographic and clinical characteristics were reported using descriptive statistics. Overall survival (OS) was taken from the time of diagnosis to death. Patients who were alive or lost to follow up were censored from the survival analysis. A total of 12 clinical and treatment related variables were taken into univariate analysis and those showing significance or a trend towards significance were taken up for multivariate analysis. Further a cluster analysis was done in a quest to find a subgroup which would have a better survival outcome as compared to other clusters. SPSS version 23 was used for statistical analysis. RESULTS: Chest wall (n=26), lower extremity (n=22) and paraspinal area (n=14) were the common sites involved. Localised swelling (n=43) was the most common presenting symptom and the median time to presentation was 2 months. Overall survival of the entire cohort at 5 years was 52 percent. Stage at presentation had a significant impact (P value<0.001) on estimated median OS (localised 70 months versus 36 months in metastatic stage). Cluster analysis showed that, patients with localised stage at presentation, good response to chemotherapy, negative resection margin and no adjuvant RT had a median survival of 69 months. CONCLUSION: Judicious use of trimodality treatment in EOES yields optimal results and it also adds significantly onto the scarce literature on this subtype of sarcoma.