Ewing's Sarcoma Presenting Research Articles

Ewing sarcoma presenting in the lung: a case report

BackgroundEwing sarcoma is a malignant round-cell tumor that primarily affects bones in children. It can also arise in extraosseous tissues, such as the lung, kidneys, and liver. The presentation symptoms of Ewing sarcoma may include cough, dyspnea, and chest pain.Case presentationThis report details the history of a 15-year-old Syrian boy with a previous diagnosis of Hodgkin lymphoma who presented with chronic shoulder pain. Imaging studies revealed an 80 mm mass in the apex of the left lung, which was confirmed through histopathological examination to be Ewing sarcoma following a computed-tomography-guided biopsy. The patient received multiple cycles of chemotherapy and subsequently underwent surgical resection of the remaining mass.ConclusionsThis case highlights the rare occurrence of Ewing sarcoma in the lung and the unusual clinical presentation of shoulder pain without other accompanying symptoms.

A rare case of extraosseous Ewing Sarcoma presenting as distal pancreatic tumor in a young lady: a case report

A rare case of extraosseous Ewing Sarcoma presenting as distal pancreatic tumor in a young lady: a case report

Assessment of the Interval to Diagnosis in Pediatric Bone Sarcoma.

The timely diagnosis of primary bone malignancies in pediatric patients is critical to clinical outcomes. The purpose of this study is to investigate the initial presentation of pediatric bone sarcoma patients to an academic health care system and assess the current interval to diagnosis. We conducted a retrospective review of pediatric patients (aged 1-18) with biopsy-proven diagnosis of osteosarcoma or Ewing sarcoma presenting between 2004 and 2020. All living patients had 1 year or more of follow-up. Primary outcomes were interval to diagnosis, clinical features on initial presentation, percent of patients with negative radiographic workup at initial presentation, and number of health care encounters before diagnosis. Seventy-one patients (osteosarcoma, 51; Ewing sarcoma, 20) were included. Average age at presentation was 13.1 ± 3.3 years (range, 4.4-18.3). Average symptom duration was 5.4 ± 13.9 months (range, 0.1-84). Clinical features at initial presentation included limb/back pain (91.5% of patients), activity modification/pain medication use (78.9%), palpable mass (40.8%), night pain (35.2%), limp (25.4%), limb disuse (18.3%), and recent fever history (2.8%). Fourteen of 71 patients (19.7%) had negative radiographs at initial presentation. Average number of health care encounters before diagnosis was 1.9 ± 0.6 (range, 1.0-4.0), with most in the outpatient pediatrician clinics (81.2%) and emergency department (18.3%). Average time to diagnosis from initial presentation was 19.5 ± 65 days (range, 0-493); the 14 patients with initial negative radiographs had a statistically significant prolonged interval to diagnosis of 54 ± 134 days (range, 0-493; P = 0.018). We found pediatric patients with primary bone sarcoma present with an average interval to diagnosis of 20 days. Twenty percent of patients had a significantly prolonged interval to diagnosis of 54 days. Clinical features suggest night pain is not a sensitive indicator. In patients of appropriate age with persistent unilateral pain in suspicious locations, early advanced imaging with magnetic resonance imaging should be considered.

Extraosseous sinonasal tract metastasis of Ewing's sarcoma presenting with sixth cranial nerve palsy

Ewing's sarcoma (ES) is a rare, aggressive, and fatal malignancy of bones and soft tissues that affect children and adolescents. It has a high potential of hematogenous metastasis, with lungs, bones, and bone marrow being the most common sites. Extraskeletal metastasis of Ewing's sarcoma in the sinonasal cavity is rare and usually presents with nasal complaints and periorbital swelling. Diplopia as the presenting complaint of sinonasal tract metastasis of Ewing sarcoma has not been reported in the literature. A high suspicion for metastasis should be kept in mind in patients presenting with atypical ophthalmic findings of Ewing sarcoma and appropriate radio imaging should be procured for early intervention.

Cutaneous Ewing Sarcoma Presenting as a Second Primary Malignancy in a Child.

Ewing sarcoma is an EWS-ETS family member-driven malignancy that most commonly arises from bone. Cutaneous Ewing sarcoma is a rare variant which harbors an EWS-ETS family fusion but demonstrates an immunohistochemical staining pattern distinct from classic Ewing tumors. EWSR1 fluorescence in situ hybridization testing interpretation can be challenging in the setting of cutaneous Ewing sarcoma, making an integrated histologic and sequencing approach key for an accurate diagnosis. Here, we report a pediatric patient with a history of neuroblastoma treated with surgery only that developed a cutaneous nodule and was diagnosed with cutaneous Ewing sarcoma as a second primary cancer.

Primary Mediastinal Ewing sarcoma presenting as a massive lung lesion with a mediastinal shift.

Primary pulmonary Ewing sarcoma can present as a massive mass in the left hemithorax covering the entire lung and can press the pulmonary artery and cause a significant mediastinal shift.

Indeterminate pulmonary nodules are not associated with worse overall survival in Ewing Sarcoma

AimLung metastases are a negative prognostic factor in Ewing sarcoma, however, the incidence and significance of sub-centimetre pulmonary nodules at diagnosis is unclear. The aims of this study were to (1): determine the incidence of indeterminate pulmonary nodules (IPNs) in patients diagnosed with Ewing sarcoma (2); establish the impact of IPNs on overall and metastasis-free survival and (3) identify patient, oncological and radiological factors that correlate with poorer prognosis in patients that present with IPNs on their staging chest CT. Materials & methodsBetween 2008 and 2016, 173 patients with a first presentation of Ewing sarcoma of bone were retrospectively identified from an institutional database. Staging and follow-up chest CTs for all patients with IPN were reviewed by a senior radiologist. Clinical and radiologic course were examined to determine overall- and metastasis-free survival for IPN patients and to identify demographic, oncological or nodule-specific features that predict which IPN represent true lung metastases. ResultsFollowing radiologic re-review, IPN were found in 8.7% of patients. Overall survival for IPN patients was comparable to those with a normal staging chest CT (2-year overall survival of 73.3% [95% CI 43.6–89] and 89.4% [95% CI 81.6–94], respectively; p = 0.34) and was significantly better than for patients with clear metastases (46.0% [95% CI 31.9–59]; p < 0.0001). Similarly, there was no difference in metastasis-free survival between ‘No Metastases’ and ‘IPN’ patients (p = 0.16). Lung metastases developed in 40% of IPN patients at a median 9.6 months. Reduction of nodule size on neoadjuvant chemotherapy was associated with worse overall survival in IPN patients (p = 0.0084). ConclusionIPN are not uncommon in patients diagnosed with Ewing sarcoma. In this study, we were unable to detect a difference in overall- or metastasis-free survival between patients with IPN at diagnosis and patients with normal staging chest CTs.

Extraosseous Ewing sarcoma presenting as recurrent intergluteal pilonidal disease

BackgroundPilonidal disease classically presents as an abscess or soft tissue swelling which classically occurs in the intergluteal cleft, just above the anus. Risk factors for this disease include obesity, prolonged sitting, and abundance of gluteal hair. Treatment options are extensive but most often include incision and drainage with antibiotic treatment. Presentation of recurrent intergluteal pilonidal disease in a young, active female would then be unusual. We present a case of a 17-year-old female presenting with what appeared to be intergluteal pilonidal disease. Definitive excision with histopathology revealed a diagnosis of extraosseous Ewing sarcoma.Case presentationAn otherwise healthy and active 17-year-old female presented to our Pediatric Oncology clinic with a 2-month history of recurrent painful soft tissue swelling of the intergluteal cleft. At that time, she had been diagnosed with pilonidal abscess and had already undergone three incision and drainage procedures. A definitive excision with pathology was performed within weeks of her initial presentation. Immunohistochemical evaluation confirmed a diagnosis of extraosseous Ewing sarcoma.ConclusionThis unusual case underlies the importance of considering a broad differential when evaluating potential pilonidal abscess in a patient who otherwise has no risk factors. Additionally, definitive excision with pathology is critical in a patient with unusually recurrent disease as this can be crucial in the identification of an alternative, and potentially devastating, diagnosis.

A Rare Presentation of Ewing Sarcoma as Supraclavicular Swelling in an Adolescent Male – A Case Report

Supraclavicular swellings can have numerous differential diagnosis ranging from infections to malignancy, in almost all age groups. Here we present a case of 15 year old boy who presented with left supraclavicular swelling and clinically diagnosed as a case of Tuberculosis, underwent FNAC which was suggestive of Small Round Blue Cell Tumor favouring Ewing sarcoma. Later, trucut biopsy of the swelling confirmed the diagnosis of Ewing sarcoma. Ewing sarcoma is one of the most common primary malignancy of bone in children but can also arise from extraskeletal region like soft tissue.

Local Lung Mass Masquerading a Very Aggressive Extraskeletal Ewing Sarcoma Presenting as Bilateral Paraparesis in a Young Adult

Ewing sarcoma is typically seen in children involving long bones. Although well described, its presentation in extraskeletal tissues is relatively rare and is classified as an Ewing sarcoma family of tumors. They are mostly curable when they occur in children. An extraskeletal Ewing sarcoma in adults is uncommon, limiting the experience in adult oncologists. The biopsy is essential for definitive diagnosis, which shows small round blue cells that must be differentiated from lymphoma, embryonal rhabdomyosarcoma, and small cell carcinoma. Management is multimodal, involving surgery, radiation for local treatment of primary tumor, and systemic chemotherapy. A multidisciplinary approach, coupled with risk-adapted intensive neoadjuvant and adjuvant multi-agent chemotherapies and other modalities such as radiation and surgery for control of the primary site and metastatic disease, is needed. The primary multidrug chemotherapy regimen consists of alternating cycles of vincristine/doxorubicin/cyclophosphamide (VDC) and ifosfamide/etoposide (IE) given every 2 weeks with growth factor support. Prognosis and the 5-year survival rate are better for localized than the metastatic disease, and in metastatic disease, it is better for patients with lung metastasis than other metastatic disease sites. We describe a rare extraskeletal tumor arising from a lung that tested positive for Ewing sarcoma, also known as Askin’s tumor in a young adult. In our case, the tumor rapidly metastasized locally to involve the thoracic spine causing paraparesis. Timely diagnosis and early management are essential to improve outcomes. We also present how treatment can be delayed due to sepsis and emphasize the careful multispecialty approach’s importance. J Med Cases. 2020;11(12):388-393 doi: https://doi.org/10.14740/jmc3582

Local Lung Mass Masquerading a Very Aggressive Extraskeletal Ewing Sarcoma Presenting as Bilateral Paraparesis in a Young Adult

Ewing sarcoma is typically seen in children involving long bones. Although well described, its presentation in extraskeletal tissues is relatively rare and is classified as an Ewing sarcoma family of tumors. They are mostly curable when they occur in children. An extraskeletal Ewing sarcoma in adults is uncommon, limiting the experience in adult oncologists. The biopsy is essential for definitive diagnosis, which shows small round blue cells that must be differentiated from lymphoma, embryonal rhabdomyosarcoma, and small cell carcinoma. Management is multimodal, involving surgery, radiation for local treatment of primary tumor, and systemic chemotherapy. A multidisciplinary approach, coupled with risk-adapted intensive neoadjuvant and adjuvant multi-agent chemotherapies and other modalities such as radiation and surgery for control of the primary site and metastatic disease, is needed. The primary multidrug chemotherapy regimen consists of alternating cycles of vincristine/doxorubicin/cyclophosphamide (VDC) and ifosfamide/etoposide (IE) given every 2 weeks with growth factor support. Prognosis and the 5-year survival rate are better for localized than the metastatic disease, and in metastatic disease, it is better for patients with lung metastasis than other metastatic disease sites. We describe a rare extraskeletal tumor arising from a lung that tested positive for Ewing sarcoma, also known as Askin’s tumor in a young adult. In our case, the tumor rapidly metastasized locally to involve the thoracic spine causing paraparesis. Timely diagnosis and early management are essential to improve outcomes. We also present how treatment can be delayed due to sepsis and emphasize the careful multispecialty approach’s importance.

Ewing's sarcoma of the cervix: A case report of an unusual diagnosis in pregnancy treated with surgery, adjuvant VIDE and radiotherapy.

Ewing's sarcoma of the cervix is a rare entity and presents with considerable challenges in diagnosis and therapy. Herein, we report a case of a cervical Ewing's sarcoma presenting with FIGO stage Ib, diagnosed during the first trimester of the patient's pregnancy. Imaging with CT scans, MRI of her abdomen and PET-CT verified the locoregional extension of the tumor. The diagnosis was confirmed by immunohistochemistry and molecular analysis. Fluorescence in situ hybridization and RT-PCR detected the pathognomonic EWS/FLI fusion gene. Favorable prognostic factors regarding the stage, clinocopathological and molecular characteristics of the tumor are also described. Due to the rarity of the disease, at present, there is no universal consensus on the optimal therapeutic approach. The literature has been reviewed and the therapeutic schemes and available clinical data have been discussed. The patient presented in this case report was treated aggressively with tri-modality therapy and underwent radical hysterectomy followed by adjuvant chemotherapy with Vincristine-Ifosfamide-Doxorubicin-Etoposide and radiotherapy. The patient remains free of this disease 42 months following the diagnosis of her tumor.

Anatomic Origin of Osteochondrogenic Progenitors Impacts Sensitivity to EWS-FLI1-Induced Transformation.

Ewing sarcomas predominantly arise in pelvic and stylopod bones (i.e., femur and humerus), likely as a consequence of EWS-FLI1 oncogene-induced transformation of mesenchymal stem/progenitor cells (MSCs). MSCs located in the embryonic superficial zone cells (eSZ) of limbs express anatomically distinct posterior Hox genes. Significantly, high expression of posterior HOXD genes, especially HOXD13, is a hallmark of Ewing sarcoma. These data drove our hypothesis that Hox genes in posterior skeleton MSCs contribute to Ewing sarcoma tumorigenesis. We isolated eSZ cells from stylopod and zeugopod (i.e., tibia/fibula, radius/ulna) bones, from wild-type and Hoxd13 mutant embryos, and tested the impact of EWS-FLI1 transduction on cell proliferation, gene expression, and tumorigenicity. Our data demonstrate that both stylopod and zeugopod eSZ cells tolerate EWS-FLI1 but that stylopod eSZ cells are relatively more susceptible, demonstrating changes in proliferation and gene expression consistent with initiation of malignant transformation. Significantly, loss of Hoxd13 had no impact, showing that it is dispensable for the initiation of EWS-FLI1-induced transformation in mouse MSCs. These findings show that MSCs from anatomically distinct sites are differentially susceptible to EWS-FLI1-induced transformation, supporting the premise that the dominant presentation of Ewing sarcoma in pelvic and stylopod bones is attributable to anatomically-defined differences in MSCs.

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 cutaneous Ewing sarcoma presenting as a chest wall lesion

A 10-year-old boy presents with a rare case of primary cutaneous Ewing sarcoma. The left-sided chest wall lesion was initially thought to be a benign haemangioma and treated with cryotherapy....

Primary orbital Ewing's sarcoma presenting with local recurrence to maxillary sinus shortly after tumor resection

Ewing's sarcoma (ES) is a malignant, small-round-cell neoplasm that normally affects the long bones of the limbs or the pelvis. Primary orbital ES of the skull has been considered extremely rare. We describe the case of a 19-year-old female patient with primary ES originating from the inferior orbital rime and, shortly after tumor resection, local recurrence to the maxillary sinus.

A Rare Case of Intrapulmonary Ewing Sarcoma Presenting with Left Atrial Tumor Thrombus

A previously healthy 24-year-old woman presented with shortness of breath. Chest radiograph (Fig. 1A) showed complete right upper and lower (RUL) lobe collapse with leftward mediastinal shift and abrupt cutoff of the right mainstem bronchus suggestive of an obstructing lesion. Chest computed tomography (CT) (Fig. 1B, C) revealed a 9-cm RUL mass (white arrowheads) with endobronchial invasion and suspected mediastinal involvement (black arrows). Pathology from bronchoscopic cytology (Fig. 2) yielded translocation-positive Ewing sarcoma. Positron emission tomography-CT showed hypermetabolic osseous foci compatible with metastases (Fig. 1D, E) and a hypermetabolic RUL mass extending toward the left atrium (LA) (Fig. 1F, G). An 18-month combination chemotherapy of cyclophosphamide–doxorubicin–vincristine/ifosfamide–etoposide was started to downsize the tumor before a possible surgical resection. To clarify possible tumor invasion into the heart, echocardiography was performed, identifying a 2.8 × 2.2 cm mass (Fig. 1H) entering the LA through the pulmonary vein. The differential diagnosis was thrombus versus invading tumor. For further clarification, cardiovascular magnetic resonance (CMR) imaging was performed, revealing a well-circumscribed heterogeneous RUL mass with areas of necrosis and hemorrhage (Fig. 1I). The mass invaded the right hilum, obstructed the right mainstem bronchus, and grew into the LA through the right superior pulmonary vein (Fig. 1I, black arrow). In addition, comparison between coronal positron emission tomography-CT (Fig. 1F) and CMR (Fig. 1I) revealed additional tissue apposed to the hypermetabolic tumor thrombus. Early postcontrast CMR confirmed the presence of a bland LA thrombus (Fig. 1J, black arrow), adherent to the enhancing tumor thrombus (white arrowhead). On the basis of the findings obtained by CMR, the patient was immediately placed on anticoagulation therapy.FIGURE 2Photomicrographs of the H&E-stained cell-block sample (upper panel, ×40 magnification) and Papanicolaou-stained bronchoscopic cytology sample (bottom panel, ×40 magnification) are shown. The H&E slide demonstrates a “small round blue cell” tumor with dark nuclei and minimal cytoplasm consistent with Ewing sarcoma cells. The Papanicolaou-stained slide shows better morphology and nuclear characteristics with central nucleoli and a rare mitosis. The characteristic cytologic finding in Ewing sarcomas is a dimorphic cell population; one being larger with a more pale nucleus (black arrow, pink/clear vacuoles in the pale cytoplasm) and the second with smaller size and darker nucleus (surrounding the pale cells).3Sanati S Lu DW Schmidt E Perry A Dehner LP Pfeifer JD Cytologic diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor with paired prospective molecular genetic analysis.Cancer. 2007; 111: 192-199Crossref PubMed Scopus (43) Google Scholar H&E, hematoxilyn–eosin.View Large Image Figure ViewerDownload (PPT) The Ewing sarcoma family of tumors has a neural crest cell origin. Most of these tumors exhibit a translocation between chromosomes 11 and 22.1Grier HE The Ewing family of tumors. Ewing's sarcoma and primitive neuroectodermal tumors.Pediatr Clin North Am. 1997; 44: 991-1004Abstract Full Text Full Text PDF PubMed Scopus (259) Google Scholar The majority of tumors typically affect the skeleton. Rare manifestations, however, have been reported in several extraosseal tissues.1Grier HE The Ewing family of tumors. Ewing's sarcoma and primitive neuroectodermal tumors.Pediatr Clin North Am. 1997; 44: 991-1004Abstract Full Text Full Text PDF PubMed Scopus (259) Google Scholar Primary pulmonary Ewing tumor is an extremely rare manifestation of the extraosseus Ewing sarcomas (EES). As of today, the number of primary pulmonary EES cases reported in literature is less than 15, including only one case of primary pulmonary EES invading the heart.2Paul S Ramanathan T Cohen DM et al.Primary Ewing sarcoma invading the heart: resection and reconstruction.J Thorac Cardiovasc Surg. 2007; 133: 1667-1669Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar Our case report highlights the importance of multimodality imaging for the diagnostic assessment of the primary tumor, tumor direct invasion, and metastasis and emphasizes the role of CMR in the differential diagnosis of intracardiac tumor mass and thrombus.

Presentation of ewing's sarcoma in unlikely age group at unusual location

Ewing's sarcoma is a highly malignant, round cell neoplasm of uncertain origin. It is the sixth most common malignant tumour of bone. It must be distinguished from chronic osteomyelitis and other malignant round cell tumours like lymphoma, metastatic neuroblastoma and small cell osteosarcoma. Most patients are between 10 to 25 years old; rarely, patients are younger than age 5 years and older than age 40 years. We report a 55 years female who presented with swelling over right shoulder with pain and inability to move right shoulder later diagnosed as Ewing's sarcoma of proximal part of humerus right side. The earlier diagnosis at this age may help in better management of the condition and prevent further complications and have a better prognosis.

Unusual Presentation of Ewing Sarcoma in the Adrenal Gland: A Secondary Malignancy from a Survivor of Burkitt Lymphoma

The occurrence of Ewing sarcoma as a secondary malignancy is an extremely rare event in long-term cancer survivors. In addition, the occurrence of Ewing sarcoma in the adrenal gland is highly unusual. In this case report, we treated a 20-year-old male patient with cyclophosphamide, doxorubicin, vincristine, dexamethasone, and methotrexate and cytarabine chemotherapy following a diagnosis of Stage IV Burkitt lymphoma. Following complete remission, he had been maintained for 2 years without evidence of disease. However, a regular follow-up computed tomography scan found a left adrenal gland mass and a biopsy revealed positive membrane-localized mic-2 expression (CD99) and the presence of the translocation of the EWSR1 gene. To our knowledge, this is the first case report of Ewing sarcoma occurring in the adrenal gland of a patient who was treated with cyclophosphamide, doxorubicin, vincristine, dexamethasone/methotrexate and cytarabine chemotherapy for Burkitt lymphoma.

Extraskeletal Ewing's Sarcoma Presenting as a Posterior Mediastinal Mass

The Ewing's sarcoma family of tumors is an uncommon group of malignant neoplasms that may be located in both skeletal and extraskeletal regions. Extraskeletal Ewing's sarcoma (EES) is quite rare and predominantly involves the soft tissues of the trunk or the extremities. Herein, we report the case of a 19-year-old female patient who complained of left arm pain. Simple chest radiography revealed an opacity occupying almost the entire left hemithorax. Diagnostic imaging techniques demonstrated a solid contrast-enhanced mass in the posterior mediastinum. There was an evident mediastinal shift, and the left lung was collapsed. Even though lymphoma was considered as an initial diagnosis, a biopsy was taken and its histopathological analysis revealed EES. In the literature, there have been only a few case reports of ESS located in the mediastinum. We conclude that, although this is an unusual location, EES should be contemplated in the differential diagnosis of mediastinal masses.