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)

We report a case of malignant choroid plexus papilloma (MCPP) of the IV ventricle in a child with prominent extraventricular expansive growth, mostly into the cerebellopontine angle. Interestingly enough, the tumor was entirely covered by thin, smooth, membranous, fibrous tissue, probably derived from the pia mater. In addition, hydrocephalus was not observed. The reason for the lack of hydrocephalus remains speculative, but it is possible that the presence of pure, nonexpansive, fibrous covering on the tumor might have suppressed the tumor growth to some extent, resulting in progressively increased intratumoral pressure. This, in turn, caused the suppression of excessive cerebrospinal fluid production by the tumor cells. From the diagnostic standpoint, immunohistochemical studies, using antiepithelial membrane antigen (EMA) and antitissue polypeptide antigen (TPA), were demonstrated to be useful for diagnosing the tumor.
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PMID:Malignant choroid plexus papilloma of the IV ventricle. 186 29

A 6-month-old girl was admitted to another hospital because of consciousness disturbance, preceded by 2 weeks of decreased activity and vomiting. She was referred to our hospital after ventricular drainage had been instituted for hydrocephalus and the tumor in the pineal region. The patient was noted to have conjugate upward gaze palsy and papilledema. CT scan and MRI revealed a large tumor in the pineal region with tumoral hemorrhage and a small mass in the right frontal lobe. At surgery, the pineal region tumor was removed subtotally. Histological examination showed the tumor to be composed of sheets of large polyhedra or round cells with an eccentric round nuclei, prominent nucleoli, and cytoplasmic inclusions. Immunohistochemical studies were positive for GFAP, vimentin, S-100, CK, EMA, and SMA, but negative for AFP, HCG, PLAP, and CEA. Following surgery, she received three 5-day cycles of chemotherapy, consisting of intravenous administration of cisplatin 20 mg/m2/day and etoposide 60mg/m2/day. After these therapies, MRI showed a decrease in the area of high intensity in the pineal region, but almost no change in the right frontal mass lesion. Follow-up radiological examination showed that the tumor had grown rapidly one month after chemotherapy and the patient died 5 months after her first hospitalization. Malignant rhabdoid tumor of the CNS is rare and remarkably malignant. This tumor should be treated using multidisciplinary management with surgery, intensive chemotherapy, and radiotherapy depending on the patient's age.
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PMID:[A case of malignant rhabdoid tumor in the pineal region in early infancy]. 930 Apr 49

By analogy to gliosarcoma, the term "ependymosarcoma" has recently been coined to thematize the rare phenomenon of a malignant mesenchymal component arising within an ependymoma. We report on an example of this paradigm, involving tanycytic ependymoma as the host tumor in a 40-year-old female who underwent two tumor extirpation procedures at one-year interval. She first presented with severe headaches, and was seen by imaging to harbor a moderately enhancing mass 2.5cm in diameter at the rostral septum pellucidum accompanied by occlusive hydrocephalus. Microscopically, the tumor consisted of solid, wavy fascicles of elongated cells that were occasionally interrupted by vague perivascular pseudorosettes. Mitotic activity was absent, and less than 1% of nuclei immunoreacted for MIB-1. A histological diagnosis of tanycytic ependymoma (WHO grade II) was rendered, and no adjuvant therapy given. At recurrence, the lesion was 3.5cm in diameter, intensely enhancing, and had already seeded into the subarachnoid space. Histology showed a biphasic glial-sarcomatous architecture with remnants of the original ependymoma now displaying hypercellularity and atypical - yet not frankly anaplastic - features. The sarcomatous moiety consisted of spindle and epithelioid cells densely interwoven with reticulin fibers. While the ependymal component was GFAP and S100 protein positive, and featured punctate staining for EMA, none of these markers was expressed in the adjacent sarcoma. Instead, the latter reacted for vimentin and smooth muscle actin. To the best of our knowledge, this is the first documentation of tanycytic ependymoma undergoing malignant transformation, one driven by a highly anaplastic mesenchymal component, corresponding to "ependymosarcoma".
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PMID:Rapid spontaneous malignant progression of supratentorial tanycytic ependymoma with sarcomatous features - "Ependymosarcoma". 1985 84

An 18-year-old girl presented with a history of visual disturbance without headache, nausea, or vomiting in May 2010. In July 2010, the patient visited our hospital because of visual disturbance. Head magnetic resonance images revealed hydrocephalus caused by a ring-enhancing mass lesion located in the vermis. Total tumor removal was performed. Histological findings revealed that honeycomb cells resembling oligodendrocytes accounted for most parts of the tumor. Rosenthal fibers and hyaline droplets were seen in a small portion. The tumor cells were immunoreactive for GFAP and Olig2, but none of the tumor cells were immunoreactive for Symaptophysin, EMA, or IDH 1. according to these findings, the tumor was diagnosed as pilocytic astrocytoma with an abundant oligodendroglioma-like component. Pilocytic astrocytoma is known to be associated with an oligodendroglioma-like component; however, the differential diagnosis for oligodendroglioma may be difficult when an oligodendroglioma-like component occupies most of the tumor.
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PMID:Pilocytic astrocytoma with abundant oligodendroglioma-like component. 2220 30

NHERF1/EBP50, an adaptor protein required for epithelial morphogenesis, has been implicated in the progression of various human malignancies. NHERF1-deficient mice have intestinal brush border structural defects and we report here that they also have disorganized ependymal cilia with development of non-obstructive hydrocephalus. Examination of mouse and human brain tissues revealed highest NHERF1 expression at the apical plasma membrane of ependymal cells. In ependymal tumors, NHERF1 expression was retained in polarized membrane structures, such as microlumens, rosettes and canals, where it co-localized with some of its ligands, such as moesin and PTEN. Analysis of a comprehensive panel of 113 tumors showed robust NHERF1 labeling of microlumens in 100% of ependymomas, subependymomas, and pediatric anaplastic ependymomas, and in 67% of adult anaplastic ependymomas. NHERF1 staining was present in 35% of ependymoma cases that lacked reactivity for EMA, the routine immunohistochemical marker used for ependymoma diagnosis. NHERF1 labeling of microlumens was either absent or rarely seen in other types of brain tumors analyzed, denoting NHERF1 as a reliable diagnostic marker of ependymal tumors. Anaplastic foci and a subset of adult anaplastic ependymomas showed complete absence of NHERF1-labeled polarity structures, consistent with a loss of differentiation in these aggressive tumors. These data highlight a role for NHERF1 in ependymal morphogenesis with direct application to the diagnosis of ependymal tumors.
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PMID:NHERF1/EBP50 is an organizer of polarity structures and a diagnostic marker in ependymoma. 2577 75

Pilocytic astrocytomas are tumors of the central nervous system mostly during the first two decades of life. Although they are mostly common in the midline structures of children, pilocytic astrocytoma within the ventricular system of an adult is extremely rare. We report a case of a 38-year old woman with obstructive hydrocephalus secondary to a brain tumor within the third ventricle. On histological examination, the tumor exhibited biphasic growth pattern comprising compacted cellular areas with Rosenthal fibers and loose textured microcystic areas with eosinophilic granular bodies. Mitosis or necrosis was not present. Immunohistochemical studies demonstrated glial fibrillary acid protein (GFAP), Olig2, and ATRX positivity as well as NeuN and EMA negativity. Ki67 labeling index was less than 1%. Molecular studies revealed that there are no isocitrate dehydrogenase (IDH) gene mutation and H3F3A mutation. This clinical presentation along with the histologic and molecular findings is consistent with a pilocytic astrocytoma arising in the third ventricle of this adult brain, which indicates that pilocytic astrocytoma can present as an intraventricular tumor in an adult patient and should be routinely included in the differential diagnosis of intraventricular brain neoplasm.
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PMID:Intraventricular pilocytic astrocytoma in an adult patient. 3313 87