Adolescent ; Female ; Humans ; Ovarian Neoplasms ; diagnosis ; Sarcoma, Ewing ; diagnosis

Ewing's sarcoma is an uncommon primary bone tumor. Primary Ewing's sarcoma of the cranium is extremely rare and constitutes only 1% of all Ewing's sarcoma cases. Usually, primary Ewing's sarcoma of the carnium manifests as an expansile osteolytic malignant bone tumor with or without intracranial extension. We report here the radiological findings of a case of Ewing's sarcoma mimicking a meningioma in an 18-year-old man.
Adolescent ; Diagnosis, Differential ; Humans ; Meningioma* ; Sarcoma, Ewing* ; Skull ; Skull Neoplasms

Thoracic radiculopathy represents an uncommon spinal disorder that is frequently overlooked in the evaluation of thoracic, or abdominal pain syndrome. The clinical representation of this uncommon disorder is often atypical. With many differential diagnoses to consider, it is not surprising that the cause of thoracic radiculopathy is often not discovered for months, or years, after the symptoms arise. We report two rare cases of thoracic radiculopathy; one case was caused by extraskeletal Ewing sarcoma (EES) along the thoracic paraspinal area, and the other by foraminal stenosis, due to a bony spur of the thoracic vertebra. As such, thoracic radiculopathy should be considered in the diagnosis of patients with thoracic and abdominal pain, especially if initial diagnostic studies are inconclusive.
Abdominal Pain ; Constriction, Pathologic ; Diagnosis ; Diagnosis, Differential ; Humans ; Radiculopathy* ; Sarcoma, Ewing ; Spine

Thoracic radiculopathy represents an uncommon spinal disorder that is frequently overlooked in the evaluation of thoracic, or abdominal pain syndrome. The clinical representation of this uncommon disorder is often atypical. With many differential diagnoses to consider, it is not surprising that the cause of thoracic radiculopathy is often not discovered for months, or years, after the symptoms arise. We report two rare cases of thoracic radiculopathy; one case was caused by extraskeletal Ewing sarcoma (EES) along the thoracic paraspinal area, and the other by foraminal stenosis, due to a bony spur of the thoracic vertebra. As such, thoracic radiculopathy should be considered in the diagnosis of patients with thoracic and abdominal pain, especially if initial diagnostic studies are inconclusive.
Abdominal Pain ; Constriction, Pathologic ; Diagnosis ; Diagnosis, Differential ; Humans ; Radiculopathy* ; Sarcoma, Ewing ; Spine

Child ; Diagnostic Errors ; Female ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; Sarcoma, Ewing ; diagnosis

Pediatric solid tumors have many similarity among different tumors. These tumors present small round cell types, and cause frequent diagnostic problems in pediatric pathology. An important advance in the investigation of these small round cell tumors has been the identification of consistent chromosomal translocations associated with several types of tumor. Eighteen patients with soft tissue sarcoma were available for review. Seventeen cell lines were also included in this study. The RNA from the specimens were analyzed by reverse transcriptase-polymerase chain reaction (RT-PCR). PAX3-FKHR fusion was present in four of five alveolar rhabdomyosarcoma and PAX7-FKHR fusion was detected in one of five alveolar rhabdomyosarcoma. None of the specimens expressed more than one chimeric transcript. EWS-FLI1 or EWS-ERG fusions were detected in all seven Ewings' sarcoma. No specimens showed EWS-WT1 fusion. These results corresponded well to the histopathologic diagnosis. There were no differences in the histologic appearances of tumors with the more frequent PAX3-FKHR or EWS-FLI1 fusions compared with those containing the variant PAX7-FKHR or EWS-ERG fusions. RT-PCR assay for chimeric transcript is an useful tool for a rapid and objective diagnosis of pediatric solid tumors. Through these tools, we can approach genetically to the differential diagnosis of undifferentiated small round tumors.
Cell Line ; Diagnosis* ; Diagnosis, Differential ; Humans ; Lymphoma ; Pathology ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Alveolar ; RNA ; Sarcoma ; Sarcoma, Ewing ; Translocation, Genetic ; Wilms Tumor

Small cell osteosarcoma is a rare form of osteosarcoma and the histological differential diagnosis from other small round cell tumors (SRCTs) is difficult. The immunohistochemical stain for MIC2 has been considered an useful diagnostic marker for Ewing's sarcoma and primitive neuroectodermal tumors but recently, other SRCTs such as malignant lymphoma and embryonal rhabdomyosarcoma also showed positive reaction. Therefore, the usefulness of MIC2 must still be proven. We experienced a case of small cell osteosarcoma of the mandible in a 25-year-old man. Histologically, the tumor consisted of small round cells that resembled those of Ewing's sarcoma. Immunohistochemically, the tumor cells expressed diffuse strong positive reaction for MIC2 gene products. However, the scanty foci of lacy osteoid material between the tumor cells seemed to be diagnostic of osteosarcoma. The histologic and immunohistochemical findings of this case suggest close relationship between small cell osteosarcoma and Ewing's sarcoma.
Adult ; Diagnosis, Differential ; Humans ; Lymphoma ; Mandible ; Neuroectodermal Tumors, Primitive ; Osteosarcoma* ; Rhabdomyosarcoma, Embryonal ; Sarcoma, Ewing*

PURPOSE: Extraosseous Ewing's sarcoma (EOE) of the rectum is extremely rare: only three cases have been reported in the literature and none of these reports described their imaging findings in detail. Herein, we describe the tumor imaging and pathological features in detail. MATERIALS AND METHODS: We report a case of rectal EOE in a 72-year-old female who received local excision and was provisionally diagnosed with a rectal submucosal spindle cell tumor. We used immunohistochemistry, histopathology, and fluorescence in situ hybridization to characterize the tumor and provide a definitive diagnosis of EOE. RESULTS: MRI revealed a well-demarcated submucosal tumor with heterogeneous enhancement and hemorrhagic foci in rectum. EOE was diagnosed by positive staining of tumor cells for CD99 and Fli-1 by immunohistochemistry and the presence of the EWSR1 gene translocation by fluorescence in situ hybridization. Although the patient underwent radiation treatment and surgery, the tumor recurred after 4 months as revealed by computed tomography and magnetic resonance imaging. CONCLUSION: Rectal EOE may present as a rectal submucosal tumor. The understanding of imaging and histological characteristics of this tumor are critical for accurate diagnosis and appropriate aggressive treatment.
Aged ; Diagnosis ; Female ; Fluorescence ; Humans ; Immunohistochemistry ; In Situ Hybridization ; Magnetic Resonance Imaging ; Rectum ; Sarcoma, Ewing*

Clear cell odontogenic carcinoma (CCOC), a very rare neoplasm located mostly in the mandible, has been regarded as a benign tumor. However, due to the accumulation of case reports, CCOC has been reclassified as a malignant entity by the World Health Organization. Patients with CCOC present with regional swelling and periodontal indications with variable pain, often remaining misdiagnosed for a long period. CCOC has slow growth but aggressive behavior, requiring radical resection. Histologic analysis revealed the monophasic, biphasic, and ameloblastic types of CCOC with clear cells and a mixed combination of polygonal and palisading cells. At the molecular level, CCOC shows the expression of cytokeratin and epithelial membrane antigen, along with markers that assign CCOC to the sarcoma family. At the genetic level, Ewing sarcoma breakpoint region 1-activating transcription factor 1 fusion is regarded as the key feature for identification. Nevertheless, the scarcity of cases and dependence on histological data delay the development of an efficient therapy. Regarding the high recurrence rate and the potential of distant metastasis, further characterization of CCOC is necessary for an early and accurate diagnosis.
Ameloblasts ; Diagnosis ; Humans ; Keratins ; Mandible ; Mucin-1 ; Neoplasm Metastasis ; Odontogenic Tumors ; Recurrence ; Sarcoma ; Sarcoma, Ewing ; Transcription Factors ; World Health Organization

BACKGROUNDPrimary Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) of urogenital tract is a rare condition with non-specific clinical presentations, which can make it difficult to diagnose. In this study, we summarize the clinical presentation, pathological features, therapeutic strategies, and prognosis of ES/PNET.

METHODSClinical information on two cases of ES/PNET in the penis and ureter was analyzed, and relevant literature was reviewed.

RESULTSES/PNET was confirmed pathologically, immunohistochemically and via molecular biology techniques in the penis (n=1) and ureter (n=1). In one case, a tumor was found at the base of penis, which had invaded the corpus cavernosum, and resulted in a massive enlargement of the penis. This tumor was initially diagnosed as an endocrine disorder. However, a confirmed diagnosis was made 11 months later when massive metastases in both lungs were noted. A tumor biopsy was performed to confirm the diagnosis, and chemotherapy with a CAV (cyclophosphamide+doxorubicin+vincristine)+IE (ifosfamide+etoposide) regimen for 9 months was prescribed. In the second case, a child was admitted due to abdominal pain and a hydroureter in the right kidney, as determined by ultrasonography. A tumor was found in the right ureter at the level of iliac vessels. Removal of the tumor and ureteral anastomosis were performed, and chemotherapy with CAV+IE for 8 months were prescribed. Both patients are currently being followed-up closely.

CONCLUSIONSES/PNET is a highly malignant tumor and has poor prognosis. Pre-operative diagnosis of ES/PNET of urogenital tract is difficult and largely depends on pathology, immunohistochemistry, and, if applicable, molecular biology. Comprehensive therapy may include surgery, chemotherapy and radiotherapy.

Child ; Child, Preschool ; Humans ; Male ; Neuroectodermal Tumors, Primitive, Peripheral ; diagnosis ; surgery ; Sarcoma, Ewing ; diagnosis ; surgery ; Urogenital Neoplasms ; diagnosis ; surgery