Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present three pediatric patients with intracranial EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS) were performed. A 12-year-old male (case 1), 14-year-old female (case 2), and 18-year-old male (case 3), presented with headaches, emesis, and seizures, respectively. The magnetic resonance images demonstrated tumors abutting the dura (cases 1 and 3) and in the third ventricle (case 2). All tumors were vascular, with solid sheets of monomorphic oval cells in a prominent myxoid/microcystic matrix. A thin fibrous pseudocapsule was present in all lesions, but definitive lymphocytic cuffing was absent. Morphologically, they closely resembled myxoid variant of angiomatoid fibrous histiocytoma. Mitoses were rare, and necrosis was absent. All tumors expressed desmin and GLUT1, and focal EMA and CD99. The proliferation index was low. FISH and NGS showed EWSR1-CREB1 fusion (cases 1 and 2), and EWSR1-CREM fusion (case 3). There were no FUS (16p11.2) or NR4A3 (9q22.33) rearrangements in case 3. Gains of 5q (including KCNIP1) and 11q (including CCND1) were present in cases 1 and 2. There were no common pathogenic genomic changes other than EWSR1 rearrangements across cases. CNS myxoid mesenchymal neoplasms with histological and immunophenotypic similarities to myxoid variant of AFH are rare, diagnostically challenging, and harbor EWSR1-CREB1 and also a novel EWSR1-CREM fusion not yet described in AFH. Therefore, it is uncertain if these tumors represent variants of AFH or a new entity. The copy number and mutational changes presented here provide support for future studies to further clarify this issue.
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PMID:Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? 2828 18

Malignant gastrointestinal neuroectodermal tumor (GNET), is a rare soft tissue sarcoma. Here we report a case of GNET arising in the intestine of a 33-year-old female, who had been treated for gastric adenocarcinoma with surgery and chemotherapy at the age of 19, in 2001. Since then, she underwent follow-up care annually and kept disease free. Nevertheless, in 2015 she presented with vomiting and was found to have a mass in the small intestine. Surgical excision was performed. Histologically, the tumor was characterized by polygonal cells with clear or eosinophilic cytoplasm, and variably scattered osteoclast-like multinucleated giant cells. Immunohistochemically, the tumor cells showed diffuse and strong expression for S100, but AE1/AE3 cytokeratin, HMB-45 and Melan-A were negative. Genetically, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). All these alterations were different from primary gastric adenocarcinoma. Moreover, the tumor gave metastases to ileal mesentery and lung in 1 and 4 years later, respectively. In summary, this is the first report of primary intestinal GNET with multiple metastases in a young woman who had a known history of chemotherapy for gastric adenocarcinoma. In consistence with previous literature, which reported a secondary GNET following chemotherapy for hepatoblastoma, we speculate that the chemotherapy might trigger the rearrangement of EWSR1 and then promote the tumorigenesis of GNET.
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PMID:Malignant gastrointestinal neuroectodermal tumor, presenting as a second malignancy after gastric adenocarcinoma: a case report and literature review. 3194 32