Evidence of ambiguous differentiation and mtor pathway dysregulation in subependymal giant cell astrocytoma
نویسندگان
چکیده
منابع مشابه
Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma.
OBJECTIVE The exact cell of origin of subependymal giant cell astrocytoma is debated but most currently consider the tumor in the astrocytic category. Mutations and subsequent biallelic inactivation of TSC1 encoding hamartin, or TSC2 encoding tuberin appear to be the underlying genetic aberrations. Inactivation leads to loss of proteins that inhibit mammalian target of rapamycin (mTOR ) disrupt...
متن کامل[Subependymal giant cell astrocytoma (tuberous sclerosis)].
Two cases of tuberous sclerosis with subependymal giant cell astrocytoma are presented. This rare autosomal dominant disorder was also detected in family members of the patients who had never had any symptoms of cerebral involvement. Both patients underwent surgery because of signs of increased intracranial pressure.
متن کاملThe Clinical Characteristics of Subependymal Giant Cell Astrocytoma: Five Cases
In this study, we reviewed the clinical characteristics of five cases of subependymal giant cell astrocytoma (SEGA) at our hospital between May 1997 and July 2012. The median age was 18 years old (range, 8 to 26). The clinical symptoms were presented as seizure in two patients and headache in three patients. All the tumors were located near the foramen of Monro. The median size of the tumors wa...
متن کاملEverolimus for subependymal giant cell astrocytoma: 5‐year final analysis
OBJECTIVE To analyze the cumulative efficacy and safety of everolimus in treating subependymal giant cell astrocytomas (SEGA) associated with tuberous sclerosis complex (TSC) from an open-label phase II study (NCT00411619). Updated data became available from the conclusion of the extension phase and are presented in this ≥5-year analysis. METHODS Patients aged ≥ 3 years with a definite diagno...
متن کاملErk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma.
INTRODUCTION Subependymal nodule (SEN) and subependymal giant cell astrocytoma (SEGA) are brain lesions frequently found in tuberous sclerosis (TS). As about 10-15% of SENs enlarge and transform into SEGAs, we examined here the possible mechanism of the phenomenon. MATERIAL AND METHODS Using Western blot we studied 1 SEN and 3 SEGA samples; SEN and 1 SEGA came from the same TS patient. We eva...
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ژورنال
عنوان ژورنال: Turkish Journal of Pathology
سال: 2012
ISSN: 1018-5615,1309-5730
DOI: 10.5146/tjpath.2012.01107