Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual case of ganglioneuroma with perineural cell differentiation is presented. The tumor was removed from the mediastinum in a 34-year-old male patient. Histologically, it contained neuroid bundles of bland spindle cells, scattered ganglion cells, and some foci of adipocytic metaplasia. Immunohistochemically, the tumor showed expected expressions of S100 protein, neurofilament protein and calretinin. In addition, many spindle cells were positive for perineural cell markers EMA, claudin-1, and GLUT-1. These cells were often arranged in an organoid fashion around the schwannoid bundles. This case indicates that the cells of ganglioneuroma can mature simultaneously towards both Schwann cell and perineural cell phenotypes.
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PMID:Mediastinal ganglioneuroma with perineural cell differentiation. Report of a case. 2271 59

Perineurioma is a rare benign peripheral nerve sheath tumor featuring perineurial differentiation. Perineurioma occurs sporadically with only one reported case in the setting of neurofibromatosis type 1 (NF-1). We present a 6.7-cm soft tissue perineurioma of the lower leg in a 51-year-old man with proven NF-1. The tumor displayed whorled and fascicular pattern with infiltrative margins and expressed EMA, GLUT-1, claudin-1, and CD34. Electron microscopy confirmed diagnosis. Furthermore, lipomatosis, cutaneous angiomatous nodules, vasculopathy, and iliac spine lesion consistent with non-ossifying fibroma were observed. Tumor DNA revealed no NF2 mutations or chromosomal aberrations but a germline NF1-deletion (c.449_502delTGTT) was detected in his blood sample. His brother displayed neurofibromas, duodenal ganglioneuroma and colonic juvenile polyp, and his mother a neurofibroma, cutaneous squamous cell carcinoma, and jejunal gastrointestinal stromal tumor (GIST); both were affected by NF-1. In conclusion, perineurioma may rarely be NF-1 related and should be included in the spectrum of neoplasms occurring in this disorder.
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PMID:Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1. 2429 91