subependymal giant cell astrocytoma syndrome

The term ‘pleomorphic xanthoastrocytoma with anaplastic features’ has been proposed for these variants (Giannini et al 1999b) but this specific terminology is not used in the 2007 classification scheme and PXAs are graded as WHO II. Reactivity for a range of neuronal lineage markers: neuron specific enolase (NSE); neurofilament protein (NFP); tau protein; class III β tubulin, may be seen (Yamane et al 2002), as well as expression of photosensory proteins such as retinal S antigen and rhodopsin (Perentes et al 1986; Illum et al 1992). However, maintaining the integrity of both fornices is important for preservation of memory function. The transcortical middle frontal gyrus approach is an excellent route for the excision of tumors in the ipsilateral anterior horn of the lateral ventricle, the anterior body of the lateral ventricle, and the anterior third ventricle. The most common location is the region of the fourth ventricle, with limited involvement of the vermis, brainstem and cerebral aqueduct (Komori et al 2002). Despite some initial consideration that DNETs were maldevelopmental hamartomatous lesions, they are regarded as neoplasms. Central nervous system (CNS) primitive neuroectodermal tumor (cPNET) is retained in the 2007 classification. Finally, a ventricular catheter is passed through the cortisectomy under direct vision. Daumas-Duport and colleagues proposed a two-tier grading scheme based on histopathological and imaging features: grade A with no endothelial cell hyperplasia and no contrast enhancement; grade B with either endothelial cell hyperplasia or contrast enhancement (Daumas-Duport et al 1997). Most examples of gliomatosis cerebri conform to WHO grade III or IV depending on the presence of endothelial cell proliferation and necrosis (Vates et al 2003). Subependymal giant cell astrocytoma WHO I. Astrocytic tumors are classified as in the 2000 WHO scheme but are listed in order from lowest to highest grade on the WHO ‘malignancy scale’. The dura is opened in a cruciate or box-shaped fashion and a ventricular catheter is placed into the frontal horn. On ultrasound, the mass tends to be isoechoic with hyperechoic foci representing calcification or hemorrhage. Despite documentation of anaplastic features (mitoses, vascular endothelial cell hyperplasia, necrosis), their behavior is universally benign (Cuccia et al 2003; Kim et al 2001) and they are graded as WHO I. Pleomorphic xanthoastrocytoma (PXA) occurs predominantly in children and young adults often located superficially, with occasional extension into overlying meninges. In the desmoplastic/nodular variant, circumscribed reticulin free zones, termed ‘pale islands’ and composed of cells with neurocytic features, are dispersed among densely packed cells with small, angulated, hyperchromatic, often overlapping nuclei, with scant cytoplasm, as seen in the usual form of medulloblastoma (McManamy et al 2007). Mitotic figures and necrosis are common. Because of these mixed glial and neuronal characteristics, some prefer the term subependymal giant cell tumor.38. Molecular analysis can now be supplemented by immunohistochemical staining for BAF47, the protein product of the INI-1 gene (Haberler et al 2006). It is of note, however, that numerous SEGA exhibit both glial and neuronal markers, including class III β-tubulin, neurofilament proteins, and neurotransmitter substances (Lopes et al 1996). Histologically, pineoblastomas resemble primitive neuroectodermal tumors with undifferentiated small tumor cells containing hyperchromatic nuclei arranged in diffuse sheets. Tumor cells have morphological features similar to pinocytes and are arranged in rosettes as well as diffuse sheets. Malignant transformation, i.e., the development of anaplastic features in recurrences of a previous benign ganglioma has been noted (Mittelbronn et al 2007). Giant cells may look like the giant cells of GBM or like gemistocytic cells. The presence of necrosis in PXA has been shown to be associated with a significantly shortened progression free survival (Pahapill et al 1996). 42.6). Mitotic activity and MIB-1 labeling indices are generally low, confirming their benign nature (Lopes et al 2007). Visualization of the fornix may be obscured by lesions based on the septum pellucidum, such as central neurocytomas. In one study, expression of the anti-apoptotic protein, survivin, in >5% of glial cells was associated with recurrence and development of anaplastic features (Rousseau et al 2006). After the anatomy of the lateral ventricle is visualized through the microscope, regardless of the approach, the anatomy is similar. The flap is based on the coronal suture, with the medial border off the midline and the anterior border at least 2 cm anterior to the coronal suture and the posterior border about 2 cm behind. The tumor cells exhibit a wide spectrum of cytoarchitectures: small elongated cells in a variably fibrillated matrix, intermediate size polygonal cells, and variable numbers of giant, ganglion-like cells. Necrosis in anaplastic oligoastrocytoma however, is associated with a significantly reduced survival (Miller et al 2006). Despite their benign nature, there are significant prognostic implications to the patients and their families, based on this tumor's nearly universal association with tuberous sclerosis. SEGAs are not infiltrative and generally show a well-demarcated border with adjacent brain (Fig. Subependymal giant cell astrocytoma (SEGA), a type of brain cancer Cardiac rhabdomyoma, which is a benign, noncancerous heart growth Angiomyolipoma of the kidney, which are benign growths that can cause serious medical problems; there is a low risk that these tumors could become cancerous The majority have a non-aggressive course following either complete or incomplete surgical resection and are accorded a grading of WHO I. However, progression and shortened postoperative survival, linked to anaplastic features, were noted in subsequent case studies (Weldon-Linne et al 1983; Whittle et al 1989; McLean et al 1998). Subependymal giant cell astrocytomas are classified as WHO grade I neoplasms,1 and despite a few examples of recurrent tumor, no cases with malignant transformation have been described.47, Although subependymal giant cell astrocytomas are designated a special type of astrocytoma, these tumors have the capacity for mixed glioneuronal differentiation. In addition to TSC1 and TSC2 mutations, activating BRAF V600E mutations have been identified in SEGAs, with one study demonstrating mutations in 6 of 14 cases.13,40, SEGAs are benign tumors (WHO grade I) and likely represent hamartomatous rather than neoplastic proliferations.41 Malignant transformation is not a part of the natural history of this tumor type. Subependymal giant cell astrocytomas (SEGAs) appear approximately in 10% of patients with tuberous sclerosis. The most important landmarks are the foramen of Monro, the thalamostriate vein, the choroid plexus, and the fornix. Diagnosis of ATRT is facilitated by demonstrating either deletion/mutation or reduced expression of the INI-1 gene located at 22q11.2 (Biegel 2006). The majority of tumor cells demonstrate variable immunoreactivity for GFAP and S-100 protein in addition to neuronal-associated epitopes such as class β-III tubulin, NF-H/M (Figs 2.36, 2.37) and neurotransmitters with variable ultrastructural features suggestive of neuronal differentiation, including microtubules, occasional dense-core granules, and rare synapse formation (Lopes & VandenBerg 2007). SGAs occur in 6–16% of patients with tuberous sclerosis. Subependymal giant cell astrocytoma. Many are epilepsy-associated. The tumor is hyperdense on CT and heterogeneous on T2 and T1 MRI, and it enhances following contrast. Histologically, SEGA can resemble gemistocytic astrocytoma, since both contain cells with abundant eosinophilic cytoplasm. Subependymal astrocytoma Subependymal giant cell astrocytoma (+) Supependymoma (+) Teratoid medulloepithelioma Teratoma, benign (O) Teratoma (+) Transitional meningioma (O) Tumor cells, benign (O) Tumor cells, malignant Venous hemangioma (O) Regardless, these aforementioned considerations are important but must be applied to the specific anatomy at the time of the intraventricular dissection. Several histologic sub-types of medulloblastoma are recognized. The astrocytic component of oligoastrocytic tumors varies in amount and may be intimately admixed with oligodendroglial cells (diffuse type) or separate from them (biphasic or compact type) (Hart et al 1974). On rare occasions, clinically benign SEGA appear malignant, featuring monomorphous spindle or epithelioid cytology, brisk mitotic activity and necrosis (Shepherd et al 1991). Numerous smaller, stable subependymal nodules (candle gutterings) often coexist with a larger SEGA, but are more widely distributed along the ventricular surface; these structures along with the presence of tubers are essentially diagnostic of tuberous sclerosis (Fig. SEGAs are uncommon tumors and account for less than 1% of all intracranial masses. The dura is closed in watertight fashion. The subependymal giant cell astrocytoma is common among the tumors in the central nervous system, but it is usually found in adolescents and young adults (1, 5). Subependymal giant cell astrocytoma (SEGA) is a clinically benign tumor that is usually associated with tuberous sclerosis complex (TSC) [ 1 ]. As their name implies, they grow directly under the ependymal surface of the lateral ventricle, and therefore a benign ependymal lining can be noted histologically at the surface of the tumors. Medulloblastoma was classified as an entity separate from CNS primitive neuroectodermal tumor (cPNET) in the 2000 WHO scheme. Diffuse astrocytoma has three sub-types: fibrillary, gemistocytic, and protoplasmic, separated on the basis of unique histopathological features. Calcifications are often present. A conspicuous microvasculature features dilated vessels with hyalinized walls. However, rare cases of craniospinal dissemination have been reported (Yamamoto et al 1996; Eng et al 1997). The characteristic histopathological feature is the presence of large, bizarrely-shaped tumor cells containing multiple hyperchromatic nuclei. Do you have updated information on this disease? The presence of necrosis in an otherwise typical anaplastic oligodendroglioma does not indicate shorter survival (Miller et al 2006). The latter may not be detected in small biopsies. 7.7F), but the staining intensity may be surprisingly weak in some instances.33 Staining for S-100 is more reliably strong in tumor cells. Like SEGAs, PXA contains a solid arrangement of atypical, pleomorphic tumor cells with an astrocytic morphology and abundant pink or pale cytoplasm. Each is histopathologically distinct. Patients with SEGAs usually present clinically between ages 2 and 30 years, but the tumors occur most frequent in the early teen years, with a mean age at presentation of 13 years. Obstruction of CSF flow can result in hydrocephalus and transependymal edema. Loss of function of either gene product results in upregulation of mTOR and increased proliferative activity. It has been suggested that any lesion near the foramen of Monro greater than 5 mm in size with incomplete calcification should be removed as soon as there is clear evidence of growth on serial scans.90 Early resection of these tumors results in improved overall outcome. A free 3 × 4-cm bone flap is placed over the central portion of the middle frontal gyrus. If the foramen is enlarged from hydrocephalus or the lesion itself, no additional dissection is necessary. Once inside the ventricle, surgical landmarks provide orientation. The small cells were initially described as having oligodendroglial features but their processes are immunoreactive for synaptophysin and neuron-specific enolase (Leung et al 1994), suggesting a neuronal lineage. Inclusion of atypical papilloma in the 2007 classification is formulated on a single study of 164 choroid plexus tumors (Jeibmann et al 2006). The FLAIR image (left) demonstrates multiple … It is the most common glioma, usually affecting the brain and sometimes the spinal cord. Gliomatosis cerebri describes the phenomenon of diffuse infiltration of at least three lobes of the cerebrum by neoplastic glial cells, usually astrocytes (Nevin 1938). From: Textbook of Clinical Neurology (Third Edition), 2007, Daniel J. Brat, Arie Perry, in Practical Surgical Neuropathology, 2010. Rosette-forming glioneuronal tumor of the fourth ventricle should not be confused with glioneuronal tumor with neuropil-like islands. METHODS The first two MRIs of all children … Originally described in 1996 as pseudo-papillary ganglioneurocytoma (Komori et al 1996) but later as papillary glioneuronal tumor (Komori et al 1998), this is a low-grade (WHO I), non-aggressive tumor occurring most commonly in the temporal lobe (Komori et al 1998). There has been considerable disagreement among neuropathologists as to whether this neoplasm is a true entity, separate from astrocytoma, or a sub-type of astrocytoma, particularly as areas with features described in astroblastoma can be found in anaplastic astrocytoma and glioblastoma. The recommendation of this study was that a tumor with two or more mitotic figures in 10 high-power fields be regarded as atypical. These tumors behave aggressively, in-keeping with their high-grade glial component (Teo et al 1999; Varlet et al 2004). Mitotic figures and necrosis are uncommon, but when they are noted, they do not constitute a high-grade diagnosis or suggest more aggressive behavior. Because of a lack of sufficient clinicopathological data, astroblastoma is not accorded a grading in the 2007 scheme. Embryonal tumors comprise medulloblastoma, primitive neuroectodermal tumor (PNET) and atypical teratoid/rhabdoid tumor (ATRT). Tumors of the pineal region are classified as in the 2000 scheme. Tumors of the frontal horn can become very large and cause obstruction of the foramen of Monro with ventricular dilation. Both anaplastic variants show increased tumor cell density as well as mitoses and vascular endothelial cell hyperplasia. Likelihood of local recurrence was linked to the Ki-67/MIB-1 proliferation index in one study (Soylemezoglu et al 1997). Whether dysplastic gangliocytoma of the cerebellum is a tumor or a hamartoma remains unresolved. The latter approach is more commonly associated with direct injury to the thalamostriate vein and thalamus. The first case report proposed an unusual variant of meningioma, expressing glial fibrillary acidic protein (GFAP) (Wanschitz et al 1995). It characteristically grows inside the ventricles, which are fluid-filled spaces deep into the brain, and can often block the normal outflow of this fluid, thus causing hydrocephalus. Before the 2000 WHO classification, these were regarded as a variant of medulloblastoma (Bechtel et al 1978; Budka & Chimelli 1994; Soylemezoglu et al 1996). 7.7G), and chromogranin.37 Ultrastructural studies typically reveal electron-dense cells with prominent cytoplasmic intermediate filaments, corresponding to GFAP. Primary glioblastoma occurs in older individuals (mean age 62 years) and presents with a short clinical history, of the order of 3 months. However, the possibility that a minority of DNETs may evolve into or co-exist with oligodendrogliomas has been raised (Gonzales et al 2007). Pineocytomas are low-grade (WHO I), slowly growing tumors that do not extend beyond the pineal and do not seed the craniospinal axis (Fauchon et al 2000). Papillary tumor of the pineal region is a new entity in this category. Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. Subependymal Calcifications Symptom Checker: Possible causes include Subependymal Giant Cell Astrocytoma. However there are several reported cases in which patients with a solitary SEGA had no other stigmata of TSC. Subependymal giant cell astrocytomas are common in the initial decades of life of patients with tuberous sclerosis and arise from the lateral ventricles. The classification and grading of oligodendroglial and oligoastrocytic tumors is identical to the 2000 scheme. They have also been described in the caudate nucleus (Cervera-Pierot et al 1997), cerebellum (Daumas-Duport et al 1988b; Kuchelmeister et al 1995) and pons (Leung et al 1994). This lesion is larger than should be seen for other subependymal nodules in tuberous sclerosis. Invasion of adjacent brain parenchyma may also be seen. The delicate processes of these neurocytic cells are strongly immunoreactive for synaptophysin (Komori et al 2002). However, recurrence and progression of pilocytic astrocytomas in adults has been reported (Stüer et al 2007). As a result, some authors have proposed that these tumors be designated subependymal giant cell tumors.50, LOH in the TSC2 gene region (16p13) has been described in a few cases of subependymal giant cell astrocytoma.51 Studies by immunohistochemistry for tuberin, the TSC2 gene product, have shown loss of tuberin immunostaining in many subependymal giant cell astrocytomas, substantiating the presumed tumor suppressor function of this gene.52,53. Atypical mitotic figures are often noted. The histopathological diagnosis of anaplastic ependymoma is appropriate where there are appreciable numbers of mitotic figures, vascular endothelial cell hyperplasia and/or necrosis. All three are associated with aggressive behavior and are graded as WHO III. When first reported (Kepes et al 1979), PXAs appeared to behave in a non-aggressive manner. Subependymoma and ependymoma are distinguished by their pseudorosettes (although SEGAs can have perivascular orientation as well), strong uniform GFAP expression, and lack of prominent gemistocyte-like and ganglionic cells. Tumors arising from neuroepithelium are divided into nine categories: astrocytic, oligodendroglial, oligoastrocytic and ependymal tumors, choroid plexus tumors, other neuroepithelial tumors (for which histogenesis is uncertain), neuronal and mixed neuronal-glial tumors, tumors of the pineal region and embryonal tumors. Michael Gonzales, in Brain Tumors (Third Edition), 2012. These are classified as cerebellar liponeurocytoma and are graded as WHO II as local recurrence has been documented (Jenkinson et al 2003). Subependymal giant cell astrocytoma occurs in the ventricles of the brain and is almost always associated with a genetic condition called tuberous sclerosis. The tuberous sclerosis complex (TSC) is a multi-system genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, resulting in increased cell growth and proliferation in specific cellular targets (Napolioni et al 2009). Tuberin and hamartin interact physically within the cell cytoplasm to form a tumor suppressor complex that inhibits the function of mTOR (mammalian target of rapamycin). Examples in which tumor cells express both neuronal and astrocytic lineage markers have been described (Tsuchida et al 1996). National Library of Medicine … The distinctive histopathological feature is the presence of vascularized papillary structures covered by one or more layers of small glial cells, which may include Olig2 immunoreactive oligodendroglia (Tanaka et al 2005). The majority of central neurocytomas behave non-aggressively and are graded as WHO II. Rhoton’s elegant lifetime work has been captured in his collected works in Neurosurgery and is arguably the most complete work on the subject.9,37 In his ventricular surgery experience, he has demonstrated that the transchoroidal or suprachoroidal approach, opening the fissure through the taenia fornix, is both safe and effective.18 Although we have safely opened the fissure through the “subchoroidal” approach on the taenia thalami side, the risk of thalamic damage is quite real and can be devastating. Pilocytic astrocytomas typically occur in children and young adults. SEGAs are uncommon tumors and account for less than 1% of all intracranial masses. We report a neonate with a rare case of a huge subependymal giant cell astrocytoma with atypical magnetic resonance imaging (MRI) findings. Indeed, even monozygotic twins can have widely differing disease manifestations. Calcifications are often seen. PRKAR1A (17q24) found in this syndrome. Less than 30 examples have been reported, most commonly in children and young adults (Lellouch-Tubiana et al 2005; Wang et al 2005; Preusser et al 2006). TSC is an autosomal dominantly in- herited neurocutaneous syndrome that affects any organ sys- tem of the body. The incidence of tuberous sclerosis is 1/5000 in the U.S. population and SEGAs occur in 10% to 20% of TSC patients (see Chapter 22), but the incidence within this population depends on whether SEGAs are identified based on clinical symptoms or radiologic screening.26–28 These tumors are important to recognize because of their strong association with TSC and because they can be confused with higher-grade neoplasms of the CNS. The aim of this study was to determine whether they could be differentiated during childhood and at an early preclinical stage, from subependymal nodules without any growing potential. Subependymal giant cell astrocytoma (SEGA) is a benign, slowly growing tumor typically occurring in the setting of tuberous sclerosis complex (TSC). Three histologic sub-types of DNET have been described: simple, complex and non-specific (Daumas-Duport 1993). Central neurocytoma is a histologically distinct tumor composed of small cells with immunohistochemical and ultrastructural features of neurons (Hassoun et al 1982; Townsend & Seaman 1986). Pineoblastoma may be a component of the trilateral retinoblastoma syndrome (bilateral retinoblastoma and pineoblastoma) (De Potter et al 1994). 7.6). A recent study of a congenital subependymal giant cell astrocytoma has demonstrated the expression of NESTIN, SOX2, GLAST, vimentin, and BLBP in the giant cell sub-populations of tumor cells (Phi et al 2008). Grossly, SEGA is a solid well-demarcated mass, often with zones of dense calcification. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Although not tabulated in the 2007 scheme, so-called ‘primary’ and ‘secondary’ glioblastomas are nevertheless recognized on the basis of molecular-genetic alterations in tumor cell DNA. Secondary glioblastoma is associated with a longer clinical history, over several years, in younger individuals (mean age 45 years), often with documented occurrences of lower grade tumors. The tumors are circumscribed with negligible capacity for invasive spread, frequently nodular, and multicystic with calcifications. Histologically, giant cell glioblastomas are anaplastic tumors with vascular proliferation, necrosis, or pseudopalisading similar to non-giant cell GBM. 7.7E), express GFAP less uniformly (Fig. Before the first descriptions of neuronal cell lineage, these tumors were regarded as ependymomas or intraventricular oligodendrogliomas. Subependymal giant cell tumors are a well-known manifestation of tuberous sclerosis, affecting 5-15% of patients with the condition 8. Most of these have histologic features that are quite distinct from SEGAs. Rather, it is referred to in the discussion of variations in the histopathological appearances of anaplastic astrocytoma and glioblastoma multiforme (Kleihues et al 2007). Occasional tumor cells are atypical and binucleate and these unusual features can give the mistaken impression of anaplasia. Subependymal giant cell astrocytoma (SEGA) is a type of brain tumor that can develop in patients with tuberous sclerosis complex (TSC). The three entities in the choroid plexus tumor category represent a spectrum from benign to malignant. Subependymal giant cell astrocytoma (SEGA) is a World Health Organization grade I tumor of glioneuronal origin, which is most commonly located at the caudothalamic groove adjacent to the foramen of Monro. In most cases, the diagnosis of TSC has already been established and the symptoms of the SEGA may be related to worsening CNS manifestations of TSC, including epilepsy, infantile spasm, autistic withdrawal, or mental status changes. Subependymal giant cell astrocytoma -like astrocytomas have distinct clinicopathologic features. Then, VandenBerg and colleagues (1987) documented a group of desmoplastic supratentorial neuroepithelial tumors with divergent differentiation and called these ‘desmoplastic infantile ganglioma’ (DIG). In the CNS, the putative cellular target may be a radial glial cell or bipotential progenitor with a limited proliferative capacity that resides in the sub-ventricular zone. Well-formed Homer Wright rosettes are less prominent compared with typical pineocytoma. The dura is augmented with pericranium or Duragen and fibrin glue when necessary. Extension into the third ventricle is uncommonly seen. Astrocytoma originates in astrocytes, which are a kind of glial cells in the cerebrum which are star-shaped. Some cellular pleomorphism and occasional multinucleate cells may be present. These patients presented with progressively proliferative facial angiofibroma, West syndrome, Lennox-Gastaut syndrome, severe mental retardation, subependymal giant cell astrocytoma and they were affected by TSC2 gene mutations. , its histogenesis remains controversial sclerosis complex ( TSC ) see figure 19 ) children with few having... Continuing you agree to the Ki-67/MIB-1 proliferation index in one study ( Soylemezoglu et 2008... Techniques, including scattered lymphocyte aggregates and individual mast cells within the arises... Pineal gland of calcifications and a minority of neurocytomas, neuronal features such as central neurocytomas non-aggressively! To relate to small areas of prior hemorrhage as WHO I since both contain with. 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