Ewing's sarcoma presenting as a cervical intradural extramedullary tumor in a 42 year old: Report of a case

We describe the clinical, pathological and genetic features in a 42 year old male with a 3 month history of arm weakness. MRI of the cervical spine with and without contrast revealed an intradural, extra-axial enhancing lesion involving the spinal canal from the foramen magnum to the level of C4. Partial surgical resection revealed a malignant neuroepithelial tumor. Genetic analysis identified a EWSRA-FLI1 (exon 7-exon 6) fusion, transcript suggesting classification as a Ewing's sarcoma/primitive neuroectodermal tumor. The case highlights the variability in the presentation of ES and value of genetic testing in atypical “blue cell” tumors.
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research

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Conclusions: This is the third case of primary ES of the petroclival bone to be reported in the literature. In this patient, management consisted of surgical incisional biopsy followed by adjuvant radiation and chemotherapy. Knowledge and awareness of this type of tumor is important for the skull base surgeon. PMID: 31966925 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
AbstractWhile sarcomas account for approximately 1% of malignant tumors of adults, they are particularly more common in children and adolescents affected by cancer. In contrast to malignancies that occur in later stages of life, childhood tumors, including sarcoma, are characterized by a striking paucity of somatic mutations. However, entity-defining fusion oncogenes acting as the main oncogenic driver mutations are frequently found in pediatric bone and soft-tissue sarcomas such as Ewing sarcoma (EWSR1-FLI1), alveolar rhabdomyosarcoma (PAX3/7-FOXO1), and synovial sarcoma (SS18-SSX1/2/4). Since strong oncogene-dependency h...
Source: Cancer and Metastasis Reviews - Category: Cancer & Oncology Source Type: research
Although there have been multiple randomised trials in newly diagnosed Ewing sarcoma family of tumours (ESFT) and these have been conducted over many years and involved many international cooperative groups, t...
Source: Trials - Category: General Medicine Authors: Tags: Study protocol Source Type: research
AbstractAdamantinoma-like Ewing sarcoma (ALES) is a rare variant of Ewing sarcoma that is defined by complex epithelial differentiation, including expression of cytokeratin and p40 and frequent keratin pearl formation. In recent years, ALES has been increasingly recognized in the head and neck, where it can mimic a wide range of small round blue cell tumors and basaloid carcinomas. However, there has been persistent controversy regarding whether ALES is best classified and managed as a sarcoma or carcinoma. This review summarizes the characteristic clinical, pathologic, immunophenotypic, and molecular features of ALES with...
Source: Head and Neck Pathology - Category: Pathology Source Type: research
Contributors : Naofumi Asano ; Hideyuki Takeshima ; Satoshi Yamashita ; Eisuke Kobayashi ; Akira Kawai ; Tadashi Kondo ; Toshikazu UshijimaSeries Type : Methylation profiling by genome tiling arrayOrganism : Homo sapiensDNA methylation in osteosarcoma and Ewing sarcoma
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Methylation profiling by genome tiling array Homo sapiens Source Type: research
Authors: Krumbholz M, Agaimy A, Stoehr R, Burger M, Wach S, Taubert H, Wullich B, Hartmann A, Metzler M Abstract There is increasing interest in the use of cell-free circulating tumor DNA (ctDNA) as a serum marker for therapy assessment in prostate cancer patients. Prostate cancer is characterized by relatively low numbers of mutations, and, in contrast to many other common epithelial cancers, commercially available single nucleotide mutation assays for quantification of ctDNA are insufficient for therapy assessment in this disease. However, prostate cancer shares some similarity with translocation-affected mesench...
Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
ConclusionsThis study demonstrates the feasibility of using a single-mouse design for assessing the antitumor activity of an agent, while encompassing greater genetic diversity representative of childhood cancers. PLX038A was highly active in most xenograft models, and tumor sensitivity to PLX038A was correlated with sensitivity to irinotecan, validating the single-mouse design in identifying agents with the same mechanism of action. Biomarkers that correlated with model sensitivity included wild-typeTP53, or mutantTP53 but with a mutation in53BP1, thus a defect in DNA damage response. These results support the value of th...
Source: Cancer Chemotherapy and Pharmacology - Category: Cancer & Oncology Source Type: research
Secondary involvement of inferior vena cava is a common presentation in aggressive solid malignancies, especially arising from kidneys, adrenals, and hepatobiliary system, mostly resulting from local infiltration. Rarely, primary tumors are seen arising from vascular tissue. The Ewing family of tumors commonly arises from bone, but there is a high propensity of these tumors to originate from nonosseous sites of mesenchymal cell origin. We would herewith demonstrate a rare presentation of Ewing sarcoma, seen originating from inferior vena cava, presenting as extensive intravascular tumor thrombosis, evaluated on FDG PET/CT ...
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
We describe an 18F-FDG PET/CT findings of a 28-year-old man who presented with left renal mass with inferior vena cava thrombus, which turned out to be primary Ewing sarcoma on histopathology specimen post left nephrectomy.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
AbstractWe herein report a variant case of desmoplastic small round cell tumor (DSRCT) showing limited desmoplasia and confusing immunohistochemical findings. A 26-year-old male was referred for multiple abdominal masses. Laparoscopic biopsy showed only the solid proliferation of small round cells, and he was initially diagnosed with small cell carcinoma. At autopsy, the tumor spread diffusely throughout the abdominal and pelvic cavities. Although the tumor was composed of a predominantly solid pattern of small round cells, multiple samples revealed a fibrous stroma in limited areas only. While immunohistochemistry showed ...
Source: Medical Molecular Morphology - Category: Molecular Biology Source Type: research
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