Extraskeletal Ewing sarcoma is a rare event, and extraskeletal Ewing sarcoma of the thyroid gland is even rarer. It has non-specific clinical manifestation and difficulty in early diagnosis. The diagnosis mainly depends on histology and immunohistochemistry. It possesses the features of high malignancy, high rate of local recurrence, and distant metastasis. Currently, the aggressive multimodal treatment contains surgery, chemotherapy, and radiotherapy. This study presented a case of extraskeletal Ewing sarcoma arising in the thyroid gland of a 30-year-old woman, who presented with supraclavicular mass and sense of dysphagia obstruction in Department of Otolaryngology, Head and Neck Surgery, Second Xiangya Hospital, Central South University in 2018. Imaging studies demonstrated a cystic-solid mass in inferior of the left leaf of thyroid gland and in the posterior of the trachea and esophagus. The patient underwent localized tumor resection. The pathological diagnosis revealed that it was a small round cell tumor, and the immunohistochemistry results were considered to be extraskeletal Ewing sarcoma. Subsequently, the patient was given chemotherapy and local radiation therapy. There was no evidence of tumor recurrence or metastasis.
Adult ; Combined Modality Therapy ; Female ; Humans ; Immunohistochemistry ; Neoplasm Recurrence, Local ; Sarcoma, Ewing/therapy* ; Thyroid Gland

Bone Neoplasms/therapy* ; Child ; Humans ; Sarcoma, Ewing/therapy*

Ewing sarcoma is the second most frequently occurring malignant tumor of the bone and soft tissue in adolescents and young adults. Genetically, Ewing sarcoma is characterized by balanced chromosomal translocation in which a member of FET gene family is fused with an ETS transcription factor, with the most common fusion being EWSR1-FLI1 (85% of cases). Treatment of Ewing sarcoma is based on multidisciplinary approach (local surgery, radiotherapy and multiagent chemotherapy), which are associated with chronic late effects that may compromise quality of life of survivors. First line treatment includes combination of drugs incorporating doxorubicin, vincristine, cyclophosphamide, ifosfamide, etoposide, and dactinomycin. The beneficial role of high dose chemotherapy has been suggested in high-risk localized Ewing sarcoma patients, and the studies are being performed to investigate the role in metastatic disease. The 5-year overall survival for localized Ewing sarcoma has improved to reach 65% to 75%. But patients with metastatic disease have a 5-year survival rate of <30%, except for those with isolated pulmonary metastasis (approximately 50%). Patients with recurrent tumor have a dismal prognosis. Novel therapeutic strategies based on understanding of molecular mechanisms are needed to improve the outcome of Ewing sarcoma and to lessen the treatment-related late effects.
Adolescent ; Cyclophosphamide ; Dactinomycin ; Doxorubicin ; Drug Therapy ; Etoposide ; Humans ; Ifosfamide ; Neoplasm Metastasis ; Neuroectodermal Tumors, Primitive, Peripheral ; Prognosis ; Quality of Life ; Radiotherapy ; Sarcoma, Ewing ; Survival Rate ; Survivors ; Transcription Factors ; Translocation, Genetic ; Vincristine ; Young Adult

Ewing sarcoma/primitive neuroectodermal tumors (ES/PNET) are a group of malignant tumors with varying degrees of neuroectodermal differentiation. Although it may develop in any organs, ES/PNET originating from small intestine is exceedingly rare. We experienced a 9-year-old girl presenting with abdominal pain, melena, and iron deficiency anemia. Imaging work-up showed multiple masses in the small bowel and omentum with disseminated peritoneal seeding nodules, indicating lymphoma as the most likely diagnosis. Pathological reports from explorative diagnostic laparoscopic biopsy showed tumors comprising small round cells with CD99 expression and EWS-FLI1 translocation leading to the diagnosis of ES/PNET. Tumor burden decreased gradually during five consecutive cycles of systemic chemotherapy. The patient received segmental resection of jejunum, followed by adjuvant chemotherapy. This is the first pediatric case of ES/PNET found in small intestine in Korea.
Abdominal Pain ; Anemia, Iron-Deficiency ; Biopsy ; Chemotherapy, Adjuvant ; Child ; Diagnosis ; Drug Therapy ; Female ; Humans ; Intestine, Small ; Jejunum ; Korea ; Lymphoma ; Melena ; Neural Plate ; Neuroectodermal Tumors ; Neuroectodermal Tumors, Primitive ; Omentum ; Pediatrics ; Sarcoma, Ewing ; Tumor Burden

Clear-cell sarcoma (CCS) is a rare soft tissue sarcoma that usually develops in the lower extremities of young adults. CCS of the gastrointestinal tract is extremely rare. We report here the first case of CCS of the stomach in Korea. A 28-year-old female developed a large tumor of the stomach that was initially considered Ewing sarcoma, based on the results of a needle biopsy. She had paraneoplastic syndrome; fever, anemia, and hyperglycemia. Follow-up abdominal computed tomography after four-cycles of chemotherapy with vincristine-doxorubicin-cyclophosphamide or ifosfamide-etoposide showed no tumor shrinkage and revealed a fistula between the tumor and the gastric lumen. The infected tumor prompted debulking surgery, which resulted in improvement of her symptoms. The pathologic findings were consistent with CCS, and fluorescence in situ hybridization for EWS gene rearrangement was positive, confirming the diagnosis. This case highlights the importance of clinical suspicion for CCS in chemotherapy-refractory Ewing sarcoma.
Adult ; Anemia ; Biopsy, Needle ; Diagnosis ; Drug Therapy ; Female ; Fever ; Fistula ; Fluorescence ; Follow-Up Studies ; Gastrointestinal Tract ; Gene Rearrangement ; Humans ; Hyperglycemia ; In Situ Hybridization ; Korea ; Lower Extremity ; Paraneoplastic Syndromes ; Sarcoma* ; Sarcoma, Clear Cell ; Sarcoma, Ewing ; Stomach* ; Young Adult

PURPOSE: The aim of this study was to evaluate the role of radiotherapy (RT) in the management of Ewing sarcoma family tumors (ESFT). MATERIALS AND METHODS: Retrospective analysiswas performed on 91 patientswith localized ESFT treated from 1988 to 2012. Primary tumor size was > or = 8 cm in 33 patients. Surgery, RT, and combined surgery with RT were applied in 37, 15, and 33 patients, respectively. RESULTS: Median follow-up was 43.8 months. Forty-three patients (47.3%) showed recurrence or progressive disease. Twelve patients (13.2%) showed local failure after initial treatment. Thirty-nine patients (42.9%) experienced distant metastases. The 5-year overall survival (OS), progression-free survival, and local control (LC) were 60.5%, 58.2%, and 85.1%, respectively. According to treatment, 5-year LCwas 64.8% with RT and 90.2% with combined surgery and RT (p=0.052). Prognostic factors for OS were tumor size (> or = 8 cm, p < 0.001) and surgical resection (p < 0.001). In large tumors (> or = 8 cm), combined surgery and RT produced better LC compared to RT (p=0.033). However, in smaller tumors (< 8 cm), RT without surgery resulted in a similar LC rate as RT with surgery (p=0.374). CONCLUSION: RT used for patients with unfavorable risk factors resulted in worse outcome than for patientswho received surgery. Smallertumors could be controlled locallywith chemotherapy and RT. For large tumors, combined surgery and RT is needed. Proper selection of local treatment modality, RT, surgery, or both is crucial in the management of ESFT.
Combined Modality Therapy* ; Disease-Free Survival ; Drug Therapy ; Follow-Up Studies ; Humans ; Neoplasm Metastasis ; Radiotherapy* ; Recurrence ; Retrospective Studies ; Risk Factors ; Sarcoma, Ewing* ; Tumor Burden

Despite the rarity of primary bone tumors, osteosarcoma and Ewing sarcoma are the most common primary malignant bone tumors in children and adolescents. Multiagent chemotherapy regimens for neoadjuvant and adjuvant treatment remarkably improved the survival outcome for patients with osteosarcoma and Ewing sarcoma, therefore, most patients are now limb-salvage candidates. However, survival rate reached a plateau for last decades and is still unsatisfactory in the metastatic and relapse setting. Therefore, as seen in denosumab in giant cell tumor, further clinical trials based on molecular mechanism are warranted. This article reviews the current state of the art of systemic chemotherapy by focusing on the clinical heterogeneity of each subtype.
Adolescent ; Child ; Drug Therapy* ; Giant Cell Tumors ; Humans ; Osteosarcoma ; Population Characteristics ; Recurrence ; Sarcoma, Ewing ; Survival Rate ; Denosumab

Primitive neuroectodermal tumor (PNET), which belongs to the Ewing's sarcoma (ES) family of tumors, is mainly seen in children and young adults. PNETs are extremely rare in the maxilla. Here, we report a case of PNET of the left maxillary sinus in an elderly male. Magnetic resonance imaging (MRI) revealed a slightly enhanced solid mass occupying the left maxillary sinus and infiltrating into the retroantral space. A partial maxillectomy was performed. Despite postoperative chemotherapy, follow-up computed tomography (CT) and MRI revealed a nodal metastasis in the submandibular space. Neck dissection was performed. However, the patient died 10 months after the second surgery because of distant metastasis to the liver. MRI and CT were particularly useful in detecting the extent of the tumor, recurrence, and metastasis. Further, a literature review of the previously reported PNET cases of the maxilla was carried out. In this paper, we also discuss the current approach for the diagnosis and management of these tumors.
Aged* ; Child ; Diagnosis ; Drug Therapy ; Follow-Up Studies ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Maxilla ; Maxillary Sinus* ; Neck Dissection ; Neoplasm Metastasis ; Neuroectodermal Tumors, Primitive* ; Recurrence ; Sarcoma, Ewing ; Young Adult

Type I insulin-like growth factor receptor (IGF-1R) has long been recognized for its role in tumorigenesis and growth, but only recently have the tools for targeting the IGF pathway become available. More than 10 IGF/IGF-1R inhibitors have entered clinical trials, and these belong to three main classes: (1) monoclonal antibodies against IGF-1R, (2) monoclonal antibodies against IGF-1R ligands (IGF-1 and IGF-2), and (3) IGF-1R tyrosine kinase inhibitors. These IGF-1R-targeting agents share common effects on IGF-1R signaling but differ in mechanisms of action, spectrum of target inhibition, and pharmacological features. Clinical activity of IGF-1R inhibitors has been demonstrated with sustained responses in a small number of patients with select tumor types, such as Ewing sarcoma and thymoma. However, many large clinical trials involving patients with adult tumors, including non-small cell lung cancer, breast cancer, and pancreatic cancer, failed to show clinical benefit in the overall patient population. Possible reasons for failure include the complexity of the IGF-1R/insulin receptor system and parallel growth and survival pathways, as well as a lack of patient selection markers. While IGF-1R remains a valid target for selected tumor types, identification of predictive markers and rational combinations will be critical to success in future development.
Antibodies, Monoclonal ; immunology ; therapeutic use ; Antineoplastic Agents ; therapeutic use ; Drug Combinations ; Humans ; Insulin-Like Growth Factor I ; antagonists & inhibitors ; Insulin-Like Growth Factor II ; antagonists & inhibitors ; Molecular Targeted Therapy ; Neoplasms ; therapy ; Protein Kinase Inhibitors ; therapeutic use ; Receptor, IGF Type 1 ; antagonists & inhibitors ; immunology ; Sarcoma, Ewing ; therapy ; Signal Transduction

Extraosseous Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) is an uncommon, aggressive, and malignant tumor with a poor patient outcome. Its occurrence in the lesser sac is a rare event and to the best of our knowledge, has not been previously described. The present case was clinically and radiologically misdiagnosed as a pancreatic tumor/gastrointestinal stromal tumor. Histopathology revealed a tumor with "small round cells" that were positive for CD99, confirming the diagnosis of ES/PNET. This report highlights the importance of considering Ewing's sarcoma in the differential diagnosis of intraabdominal, extraintestinal masses.
Antigens, CD/analysis ; Biopsy ; Cell Adhesion Molecules/analysis ; *Diagnostic Errors ; Female ; Humans ; Immunohistochemistry ; Middle Aged ; Neuroectodermal Tumors, Primitive, Peripheral/*diagnosis/immunology/pathology/therapy ; Pancreatic Neoplasms/*diagnosis ; Peritoneal Neoplasms/*diagnosis/immunology/pathology/therapy ; Predictive Value of Tests ; Sarcoma, Ewing/*diagnosis/immunology/pathology/therapy ; Tomography, X-Ray Computed ; Tumor Markers, Biological/analysis