Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification

The newest revision of the WHO classification of tumors of the central nervous system, also known as WHO 5th edition, introduces substantial changes, especially within the glial tumor category and separates adult-type and pediatric-type glial tumors into different categories for the first time. In addition, another category of glial tumors, “Circumscribed Astrocytic Gliomas” were also created. This group includes pilocytic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, chordoid glioma, astroblastoma, and the highly nebulous novel entity high-grade astrocytoma with piloid features. We present a brief and critical review of the pathological and molecular characteristics of these often well-demarcated tumors that can occur in adults as well as in the pediatric population.

A Case of Tuberous Sclerosis with Subependymal Giant Cell Astrocytoma (SEGA) Treated with Gamma Knife Surgery / 대한소아신경학회지

Subependymal giant cell astrocytoma (SEGA) is the most common brain tumor that develops in 5-20% of patients with tuberous sclerosis complex. Although these lesions are slowly growing tumor, they can cause morbidity and mortality due to acute hydrocephalus because of their prevalent location near the foramen of Monro. Surgery has been the standard care for SEGAs demonstrating serial growth and symptomatic hydrocephalus. However, not all SEGAs are treatable by complete surgical resection. Gamma Knife stereotactic radiosurgery can be considered as a second option, but it has shown highly variable responses in patients with limited data. In recent years, drugs with novel mechanism, sirolimus and other mammalian target of rapamycin (mTOR) inhibitors have been found to reduce the size of SEGAs. We report a case of treatment of SEGA with gamma knife surgery which continued for two years without progression, even though surgical resection was done, finally.

Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients

PURPOSE: We described the presenting symptoms, radiologic features and postoperative course of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) patients.METHODS: This is a retrospective study including 12 patients (M:F=9:3) who were pathologically confirmed as SEGA between March 1998 and May 2011.RESULTS: Five teenage patients consisted of four who presented with recently appeared headache, vomiting and visual symptoms and one with seizure were never diagnosed as TSC before this presentation. The others (n=7) presented with seizure and diagnosed with TSC before three years of age, and they were diagnosed as SEGA after median 6.5 (2-14) years. The presenting symptoms were headache or vomiting (n=7), blurred vision (n=3), weakness (n=2) and increased seizure frequency (n=1). Four patients experienced tumor recurrence between five months and three years of follow-up; surgical tumor removal (n=1) and gamma knife surgery (n=3) were done for the recurred tumor. The size of residual tumor increased in two patients and repeated tumor removal was done.CONCLUSIONS: Most of SEGA presented with new onset headache, vomiting and visual symptoms. After surgery, the tumor recurred in 25% of patients. Serial follow-up is essential to detect new lesion and find tumor recurrence in patients with SEGA.

Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients / 대한간질학회지

PURPOSE: We described the presenting symptoms, radiologic features and postoperative course of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) patients. METHODS: This is a retrospective study including 12 patients (M:F=9:3) who were pathologically confirmed as SEGA between March 1998 and May 2011. RESULTS: Five teenage patients consisted of four who presented with recently appeared headache, vomiting and visual symptoms and one with seizure were never diagnosed as TSC before this presentation. The others (n=7) presented with seizure and diagnosed with TSC before three years of age, and they were diagnosed as SEGA after median 6.5 (2-14) years. The presenting symptoms were headache or vomiting (n=7), blurred vision (n=3), weakness (n=2) and increased seizure frequency (n=1). Four patients experienced tumor recurrence between five months and three years of follow-up; surgical tumor removal (n=1) and gamma knife surgery (n=3) were done for the recurred tumor. The size of residual tumor increased in two patients and repeated tumor removal was done. CONCLUSIONS: Most of SEGA presented with new onset headache, vomiting and visual symptoms. After surgery, the tumor recurred in 25% of patients. Serial follow-up is essential to detect new lesion and find tumor recurrence in patients with SEGA.

Complejo nódulo subependimario-astrocitoma subependimario gigantocelular en niños con esclerosis tuberosa / Subependymal nodules-subependymal giant cell astrocytoma complex in children with tuberous sclerosis

El objetivo fue describir las características clínico imagenológicas de niños con esclerosis tuberosa que presentaron el complejo Nódulo Subependimario (NS)-Astrocitoma Subependimario Gigantocelular(ASGC) y analizar el comportamiento evolutivo de dicho "complejo" para detectar precozmente su crecimiento y evitar las complicaciones de la hipertensión endocraneana (HTE). Evaluamos 22 pacientes con diagnóstico anátomo patológico de ASGC. El diagnóstico del tumor se realizó a una media de 10.1 años. Pudimos observar la evolución de NS a ASGC; estos NS se ubicaron adyacentes al agujero de Monro y con el tiempo tuvieron un importante crecimiento con intensa captación de contraste e hidrocefalia. La aceleración en el crecimiento de estos NS y su "transformación" en ASGC se produjo a los 10 años de edad promedio, con un diámetro medio de 9 mm. Ningún NS alejado de los forámenes de Monro evolucionó a ASGC. Quince pacientes (68%) fueron operados con síntomas de hipertensión endocraneana. La edad media de la cirugía fue 10.8 años. Seis pacientes presentaron déficit visual. En estos últimos, el diámetro medio mayor del tumor fue 31.5 mm, mayor que los 18.7 mm del grupo de pacientes que no presentó secuela visual. El seguimiento clínico imagenológico periódico de toda lesión subependimaria próxima a los agujeros de Monro, permitiría en etapa presintomática anticipar un tratamiento quirúrgico, que reduciría la incidencia de HTE. Estudios prospectivos podrían determinar si el complejo NS-ASGC corresponde a una misma entidad en distinta etapa evolutiva, o son dos lesiones con diferente potencial de crecimiento.

The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN) - subependymal giant cell astrocytoma (SGCA) complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with the pathological diagnosis of SGCA. The diagnosis was made at a median of 10.1 years old. We were able to observe the evolution of SN to ASGC: these SN were localized adjacent to the foramen of Monro and with time they underwent an important development with intense contrast enhancement and hydrocephalus. The acceleration in SN growth and its "transformation" into SGCA occurred at an average of 10 years of age, with a mean diameter of 9 mm. No SN located far from the foramen of Monro evolutioned to SGCA. Fifteen patients (68%) were operated with symptoms of intracranial hypertension. Average age at surgery was 10.8 years old. Six patients presented visual deficit and in these, the average diameter of the tumor was 31.5 mm, a high value when compared to 18.7 mm in the patients without visual deficit. The imaging and clinical follow-up of any subependymal lesion close to the foramen of Monro will permit, at a presymptomatic stage, an anticipation of surgical treatment thus reducing intracranial hypertension incidence. Prospective studies could determine whether the SN-SGCA complex corresponds to the same entity in distinct evolution stages or to two lesions with different growth potential.

Clinicopathological Analysis of Subependymal Giant Cell Astocytomas in Childhood

OBJECTIVE: The authors present an evaluation of clinical features and outcome of six children with subependymal giant cell astrocytoma(SEGA). METHODS: Between 1998 and 2002, six patients aged between 6 and 15 years were diagnosed as SEGA. Five out of six children had complex signs of tuberous sclerosis(TS) and remaining one child had intraventricular tumor without the evidence of TS. We uneventfully performed complete tumor resection in all patients via transcallosal approach. One child needed ventriculoperitoneal shunt due to sustained ventriculomegaly. RESULTS: All patients remained stable and did not deteriorate neurologically compared with preoperative state at a mean follow-up of 18 months. CONCLUSION: Even though the SEGA has a benign biological behavior, surgery should be considered if there is a concurrent hydrocephalus, a sizeable tumor or interval volume increase of the tumor during the follow-up period.

Subependymal Giant Cell Astrocytoma with a Large Third Ventricular Hematoma

Subependymal giant cell astrocytoma(SEGA) is the most common intracranial tumor in patients with tuberous sclerosis(TS) and relatively benign tumor that arises in the subependymal layer of the lateral ventricle. It may occur independently, or in association, with TS and usually is found in adolescents and young adults. However, it is extremely rare that SEGA has caused intratumoral and intraventricular hemorrhage. We are reporting a case with a large third ventricular hematoma well encapsulated with fibrous tissue, originating in SEGA around foramen Monro of the lateral ventricle.

Hemorrhagic Subependymal Giant Cell Astrocytoma without the Clinical Feature of Tuberous Sclerosis : Case Report

Subependymal giant cell astrocytoma(SEGA) is a rare intraventricular tumor that mainly occurs in patients with tuberous sclerosis. The tumor characteristrically arises in the wall of the lateral ventricle and presents as an intraventricular mass causing hydrocephalus by obstruction of the foramen of Morno. Hemorrhagic presentation of SEGA has been very rarely reported only in patients with tuberous sclerosis. A 41-year-old man presented with sudden onset of severe headache, nausea and vomiting. There was no clinical feature of tuberous sclerosis. Preoperative neuroimaging studies showed a intraventricular tumor with hemorrhage. The mass was totally removed throught interhemispheric transcallosal approach. The authors report an unusual case of hemorrhagic SEGA, which is devoid of any clinical feature of tuberous sclerosis with review of pertinent liteatures.

Immunohistochemical Study of Central Neurocytoma, Subependymoma and Subependymal Giant cell Astrocytoma Located around the Foramen of Monro

OBJECT: To gather information concerning ontogeny, the authors present the results of immunohistochemical stainings of neuronal and glial markers and the reverse transcriptase-prolongation chain reaction (RT-PCR) of nestin for three intraventricular tumors located around the foramen of Monro. METHODS: Seven cases of central neurocytomas(CN), three subependymomas(SE) and eight subependymal giant cell astrocytomas(SEGA), were included in this study. Antihuman monoclonal antibodies of synaptophysin(SNP)(DAKO, 1:20), chromogranin A(ChrA)(DAKO, 1:100), neuron specific enolase (NSE)(DAKO, 1:500) and nerve cell adhesion molecule(NCAM)(Zymed, 1:500) were utilized for neuronal markers and glial fibrillary acidic protein(GFAP)(DAKO, 1:300) functioned as a glial marker in immunohistochemical(IHC) stainings. Reverse transcriptase polymerase chain reaction(RT-PCR) for nestin was performed in all cases. RESULTS: For chromogranin A, positive reaction was found in three of the seven CN cases but none of the SE and SEGA cases. For IHC staining of synaptophysin, positive reaction was revealed in all CN cases but in none of the SE and SEGA cases. For NCAM, positive reaction was demonstrated in five of the eight SEGA cases and in all SE and CN cases. For NSE, positive reaction was exhibited in seven of the eight SEGA cases and in all SE and CN cases. Positive reactions for NSE and NCAM in the SEGA cases were manifested mainly in the cytoplasms of giant cells and their background. For IHC staining of GFAP, positive reaction was demonstrated in one of the seven CN cases, in three of the eight SEGA cases, and in all SE cases. RT-PCR product of nestin was expressed in two of the seven CN cases, in two of the three SE cases, and in one SEGA case. CONCLUSION: Many cells of CN, SE and SEGA, had expressed positive reactions for both neuronal and glial markers in IHC study and nestin in RT-PCR. It is suggested that origin cells of these tumors might express both neuronal and glial differentiation.

A Case of Tuberous Sclerosis Complex Developing with Subependymal Giant-Cell Astrocytoma and Hydrocephalus

The subependymal giant-cell astrocytoma, a key feature of the tuberous sclerosis complex, has been reported in patients without obvious features of this condition. The tumor is a rare cerebral glioma that characteristically arise in the wall of lateral ventricle and as an intraventricular mass, causing hydrocephalus by obstruction of the foramen of Monro. We experienced a case of tuberous sclerosis in 9-year-old male patient who presented typical clinical manifestations and cortical tuber, subependymal giant-cell astrocytoma developing with hydrocephalus. Diagnosis was confirmed by brain CT and MRI. We applied surgical resection to remove the mass. Brief review and related literatures were also presented.

A Case of Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis: Case Report

Subenpendymal giant cell astrocytoma is a rare cerebral glioma that mainly occurs in patients with tuberous sclerosis. In the following case, a subependymal giant cell astrocytoma in the absence of tuberous sclerosis occurred in the wall of the lateral ventricle and presented as an intraventricular mass cauing hydrocephalus by obstruction of the foramen of Monro. The mass was removed completely through transcallosal approach with the microsurgical technique.

A case of tuberous sclerosis developing with subependymal giant-cell astrocytoma

No abstract available.

Two Cases of Tuberous Sclerosis Associated with Subependymal Giant Cell Astrocytoma

Neurosurgical intervention in the syndrome is discussed in the light of two recently treated cases, one of which was admitted due to acute hydrocephalic attack, the other was confirmed by the typical computed tomographic findings as well as the classic triad of adenoma sebaceum, mental retardation and epilepsy. There cases had no family historty and were probably the result of new mutations and variable penetrance. Transcallosal microsurgical excision of tumor was accomplished in both cases and subependymal giant cell astrocytoma was confirmed. The hydrocephalus resolved but subduroperitoneal shunt was required in one case.

A Case of Subependymal Giant Cell Astrocytoma associated with Tuberous Sclerosis(Case Report)

Subependymal giant cell astrocytoma is a very rare cerebral glioma and is known to be usually associated with tuberous sclerosis. We experienced a case of this tumor occurred at the wall of both lateral ventricles near the foramen of Monro in a patient of tuberous sclerosis who had symtoms and signs of hydrocephalus and other complex manifestations of facial adenoma sebaceum, huge fibroma on occipital scalp and hamartoma on the right retina. The masses were removed completely through transcallosal approach with microsurgical technique. The literatures are also reviewed.