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.
METHODS: 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 sarcoma (ES) of the lung is anecdotally rare, with few cases reported in literature. This report describes a 46 year-old man who presented with cough and chest pain. CT Thorax revealed a lesion in the right lung. Ultrasound guided fine-needle aspiration of the mass and subsequent cytologic examination exhibited a small round cell morphology. Immunohistochemistry done on the cell block revealed CD 99 and FLI-1 positivity, confirming the diagnosis of ES. FISH supported the diagnosis, showing the EWSR1 rearrangement. Radiologic investigations ruled out a primary tumour elsewhere, confirming the diagnosis of primary pulmonary ES. The patient was started on chemotherapy.

Ewing\'s sarcoma (ES) is a small cell malignant tumor that occurs in the bone of children or adolescents. ES can also occur in extraskeletal organs, such as the pancreas, thyroid, liver, proximal phalanx, and, rarely, cervix. Only 15 published case reports have discussed ES arising in the cervix. We report a 76-year-old woman who had groin mass. ES was diagnosed in accordance with morphological and immunohistochemical maps. Fluorescence in situ hybridization and RT-PCR (reverse transcription PCR) revealed ESWR1 gene rearrangement and fusion gene formation (EWS-FLI-1), both of which confirmed the diagnosis of ES. Although the patient underwent surgical resection, the patient died without chemotherapy and radiotherapy. This case is the first one to involve a patient aged over 70 years and the fifth one to show metastasis occurrence.

Ewing sarcoma is a rare tumor developed in bone and soft tissues of children and teenagers. This entity is biologically led by a chromosomal translocation, typically including EWS and FLI1 genes. Little is known about Ewing sarcoma predisposition, although the role of environmental factors, ethnicity and certain polymorphisms on Ewing sarcoma susceptibility has been studied during the last few years. Its prevalence among cancer predisposition syndromes has also been thoroughly examined. This review summarizes the available evidence on predisposing factors involved in Ewing sarcoma susceptibility. On the basis of these data, an integrated approach of the most influential factors on Ewing sarcoma predisposition is proposed.

A 10-y-old female captive Formosan serow (Capricornis swinhoei) was inactive and was azotemic. An autopsy was performed following her death, and multiple irregularly shaped, white-to-gray masses of 0.5-2 cm diameter were noted on both ureters, the left adrenal gland, urinary bladder, and uterus. Microscopically, organs were effaced by a poorly demarcated, highly infiltrative neoplasm, composed of neoplastic round cells arranged in islands, sheets, or nests with occasional rosette formation. The neoplastic cells were small: ≤2 red blood cell (≤ 15 μm) diameter. The neoplastic cells were positive for CD56, CK, FLI-1, and NSE, but negative for desmin, GFAP, melan A, NF, PAX-8, S100, synaptophysin, and vimentin. Therefore, the diagnosis of retroperitoneal extraosseous peripheral primitive neuroectodermal tumor (pPNET) was made. pPNET with FLI-1 expression has not been reported previously in animals, to our knowledge.

Rare cases of Ewing\'s sarcoma/primitive neuroectodermal tumors (EWS/PNETs) arising from mesenteric tissue have been reported. This report describes an EWS/PNET in a 25-year-old woman who presented with abdominal pain lasting 3 days. Radiologic evaluation revealed a 9 cm × 6 cm homogeneous mass in the lower abdomen with homogeneous enhancement and invasion of the ileum. Surgical resection was completed during exploratory laparotomy. Immunohistochemically, the tumor cells revealed CD99, friend leukemia virus integration-1 and NKX2.2 (NK2 Homeobox 2, a protein coding gene) and subsequently showed EWSR1 rearrangement. The histological feature, immunohistochemical results and genetic fluorescence in situ hybridization analysis of this case were confirming the diagnosis of EWS/PNET. Adjuvant chemotherapy was suggested, but the patient was lost to follow-up.

OBJECTIVE: To improve the understanding of tracheal peripheral primitive neuroectodermal tumor (PNET).
METHODS: A case of tracheal PNET diagnosed in July 2010 was reported and the related literatures were reviewed. The literature review was carried out respectively with \"primitive neuroectodermal tumor\", \"peripheral\" as the search terms in Wanfang med online and PubMed database by September 2011.
RESULTS: A case of 63 year-old female patient, who had been misdiagnosed as having chronic pharyngitis, chronic bronchitis and bronchial asthma, was admitted to the hospital because of cough and sputum production for 50 days, and anhelation for 1 month. After admission, the chest computerized tomography showed a space-occupying lesion in the middle of the trachea. Bronchoscopy showed a pedicle neoplasm 4 cm under the subglottic, with integral capsule, smooth surface and rich vascellum. Subsequently, tumor resection under bronchoscope was performed. Pathology report after operation showed infiltration of flake small round malignant cells under bronchial mucosa. Immunohistochemistry showed CD(99)(+), Syn(+) and S-100(+). EWS-FLI-1 fusion transcript was detected by RT-PCR. Accordingly, it was diagnosed as PNET. The symptoms of cough and anhelation were disappeared after operation. So far, there was no local recurrence and distant metastasis with 14 months follow-up. A total of 111 literatures were received in Pubmed, including one of prospective study, one of review, 22 of retrospective study and 87 of case report. Forty literatures and 187 cases in all were received in Wanfang Med Online, including 24 of retrospective study and 16 of case report. But, there were no reports about tracheal PNET.
CONCLUSIONS: PNET can occur in the trachea and is easy to be misdiagnosed. To make a definite diagnosis, histopathology and immunohistochemistry are needed and detection of EWS-FLI-1 fusion transcript is a reliable marker for molecular diagnosis. The tracheal pPNET may be different with the pPNETs in other parts, and has a lower-grade invasion and less distant metastasis.

Primary Ewing\'s sarcoma/primitive neuroectodermal tumor (ES/PNET) of the kidney is a distinct entity that can be mistaken for variety of round cell tumors. We report a rare case of ES/PNET of the kidney in a 35-year-old female patient diagnosed by fine needle aspiration cytology (FNAC) and confirmed by immunohistochemistry (IHC) and reverse-transcriptase polymerase chain reaction (RT-PCR). Ultrasound guided FNAC smears from the kidney mass showed a population of malignant small round cells with perivascular arrangement and focal rosette formation. IHC performed on the cell block, showed strong immunopositivity for CD99 (MIC2) and vimentin. Molecular analysis of the aspirate by RT-PCR confirmed the EWS-FLI type1 transcript. The application of RT-PCR on FNAC material for establishing a diagnosis of renal ES/PNET is being reported for the first time. FNAC also confirmed metastases in the right level I cervical lymph node. The utility of IHC and molecular techniques in diagnosis of such a rare case is stressed and relevant literature is discussed.

This study presents a case of Ewing sarcoma and primitive neuroectodermal tumor arising in the esophagus of a 44-year-old woman who presented with progressive dysphagia. Imaging studies demonstrated a polypoid lesion in the esophagus. The tumor was characterized by corded and pseudopapillary architecture, cytologic monotony, and low proliferative activity. Immunohistochemical stains were positive for CD99, neuron-specific enolase, vimentin, cyclin D1, p53, and FLI1 gene product. Fluorescence in situ hybridization demonstrated a 22q12 translocation, associated with primitive neuroectodermal tumor in the tumor cells, whereas reverse transcription polymerase chain reaction conformed expression of Ewing sarcoma/FLI1 fusion transcript in the patient\'s bone marrow aspirate. Although this is a rare site for this type of tumor to occur, primitive neuroectodermal tumor should be considered in the differential diagnosis of mesenchymal tumors of the esophagus. Genetic analysis is crucial to establish the diagnosis and can be successfully performed on formalin-fixed, paraffin-embedded material and hematopoietic tissue.

Ewing sarcoma family of tumors (ESFT) comprise common sarcomas in children and young adults. Such tumors usually occur in the medullary cavity of long bones and directly invade cortical bone and circumferential soft tissue, including periosteum. Periosteal ESFT is extremely rare and only a small numbers of cases, including cases not confirmed by molecular detection of chimeric fusion gene, have been reported. We describe herein a case of periosteal ESFT of the femur in a 13-year-old boy harboring EWS-FLI1 chimeric fusion gene transcripts detected by reverse transcription-polymerase chain reaction analysis. This report may provide an opportunity for further evaluation of the EWS-FLI1 type 1 fusion gene and detection of prognostic significance in periosteal ESFT.