Perinatal (fetal and neonatal) astrocytoma: a review.

INTRODUCTION: The purpose of this review is to document the various types of astrocytoma that occur in the fetus and neonate, their locations, initial findings, pathology, and outcome. Data are presented that show which patients are likely to survive or benefit from treatment compared with those who are unlikely to respond. MATERIALS AND METHODS: One hundred one fetal and neonatal tumors were collected from the literature for study. RESULTS: Macrocephaly and an intracranial mass were the most common initial findings. Overall, hydrocephalus and intracranial hemorrhage were next. Glioblastoma (GBM) was the most common neoplasm followed in order by subependymal giant cell astrocytoma (SEGA), low-grade astrocytoma, anaplastic astrocytoma, and desmoplastic infantile astrocytoma (DIA). Tumors were detected most often toward the end of the third trimester of pregnancy. CONCLUSION: A number of patients were considered inoperable since their tumor occupied much of the intracranial cavity involving large areas of the brain. High-grade astrocytomas were more common than low-grade ones in this review. Fetuses and neonates with astrocytoma have a mixed prognosis ranging from as low as 20 % (GBM) to a high of 90 %. The overall survival was 47/101 or 46 %.

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

PURPOSE: Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients. METHODS: Cohort of 452 TSC patients was reviewed to identify cases with growing or hydrocephalus producing SEGAs in the first 3 months of life. Clinical presentation, size of the tumor, growth rate, mutational analysis, treatment applied, and outcome were analyzed. RESULTS: Ten (2.2 %) patients presented with SEGA in the first 3 months of life. All of them had documented SEGA growth and all developed hydrocephalus. In eight patients, mutational analysis was done, and in all of them, TSC2 gene mutations were identified. Mean maximum SEGA diameter at baseline was 21.8 mm. Mean SEGA growth rate observed postnatally was 2.78 mm per month and tended to be higher (5.43 mm per month) in patients with TSC2/PKD1 mutation than in other cases. Seven patients underwent SEGA surgery and surgery-related complications were observed in 57.1 % cases. One patient was successfully treated with everolimus as a primary treatment. CONCLUSIONS: Congenital SEGA develops 2.2 % of TSC patients. Patients with TSC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth. In young infants with SEGA, both surgery and mTOR inhibitor should be considered as a treatment option.

Diagnosis and management of brain and spinal cord tumors in the neonate.

Congenital central nervous system (CNS) tumors are rare, accounting for <5% of childhood CNS tumors. Although the definition remains arbitrary, 'congenital' is often defined as CNS tumors diagnosed at birth or within a few months after birth. Congenital CNS tumors are now increasingly detected on prenatal ultrasound, with polyhydramnios as the most frequent finding. After delivery, most congenital CNS tumors are associated with macrocrania and hydrocephalus. Teratomas are the most common congenital CNS tumors; other common tumors include astrocytomas, embryonal tumors such as medulloblastomas, and choroid plexus tumors. Choroid plexus tumors (predominantly papillomas) have the best outcome, as aggressive surgical resection can be curative. Other congenital CNS tumors have a collectively poor prognosis, although some subtypes may benefit from complete resections and chemotherapy. Given the rare incidences and diverse pathology of congenital CNS tumors, multicenter studies are required to accurately assess treatment efficacy and outcome measures.

A huge intraventricular congenital anaplastic astrocytoma: case report with histopathological and genetic consideration.

Congenital malignant gliomas are rare brain tumors about which few reports have been published. We present the clinical course and genetic alterations in an infant with a congenital malignant glioma detected incidentally by ultrasonography at 36 weeks. The tumor occupied the right temporoparietal region, extended to the posterior fossa, and significantly compressed surrounding structures. The female infant was entirely normal without macrocrania, tense fontanel, or sucking difficulties. The tumor was subtotally resected by two-stage surgery; pathological diagnosis was anaplastic astrocytoma. Immunohistochemical staining was positive for p53 and negative for epidermal growth factor receptor. There was no O(6)-methylguanine-DNA methyltransferase (MGMT) gene promoter methylation, no 1p/19q loss of heterozygosity, and no isocitrate dehydrogenase 1 (IDH1) mutation. She underwent postoperative chemotherapy and is alive and well 12 months after surgery.

[Neonatal intracerebral bleeding as initial symptom of gliomatosis cerebri WHO III--neurological outcome after partial hemispherectomy]. / Eine neonatale intrazerebrale Blutung als Initialsymptom einer Gliomatosis cerebri WHO III--neurologisches Outcome nach partieller Hemisphärektomie.

INTRODUCTION: Anaplastic astrocytomas presenting as gliomatosis cerebri in neonates are extremely rare. Tumours in newborns are mostly of neuroectodermal origin. CASE REPORT: We report about a female newborn at term [birth weight 3 600 g (P 90), head circumference 35 cm (P 95) APGAR 9/10/10] with an intracerebral partially clotted bleeding in the left parieto-occipital region. The bleeding was expansive leading to axial and lateral cerebral herniation. The intracerebral bleeding in the left occipital region was surgically removed. Macroscopically no solid tumour was seen, but small fragments of an anaplastic astrocytic tumour (WHO grade III) were diagnosed histologically. After surgery, no remaining tumour was visible in the MRI. 6 weeks later, a recurrent tumour (4×4 cm) was found in the area of the initial bleeding. Further treatment was initially refused by the parents. The child was readmitted to our hospital at the age of 11 months in good clinical condition and presented with left-sided hemiparesis, right-sided hemianopsia and intermittent strabismus convergens alternans. Because of the good clinical condition further therapeutic treatment was initiated. Due to the final extension of the tumour into the temporal, parietal and occipital lobes, a gliomatosis cerebri WHO III was diagnosed. An extended partial hemispherectomy was done. After neurosurgery, no further neurological failures occurred. In the follow-up examination, MRI showed no relapse of the tumour. Chemotherapy according to the HIT SKK protocol was initiated. A relapse did not occur over a follow-up of 2 years. CONCLUSION: This is a rare case report of a congenital gliomatosis cerebri WHO grade III, treated with partial hemispherectomy, leading to a good clinical and neurological long-term outcome.

Congenital brain tumors: diagnostic pitfalls and therapeutic interventions.

Congenital brain tumors are rare, accounting for 0.5% to 4% of all pediatric brain tumors. A 10-year retrospective study based on autopsy and neurosurgical clinical reports with a diagnosis of congenital/fetal/neonatal brain tumor identified 6 cases. Four cases were diagnosed antenatally by neuroradiology. Clinical outcomes in 5 cases resulted in death; 1 patient with choroid plexus papilloma underwent successful resection of the tumor and is still alive. Tumor pathologies consisted of 2 teratomas, 2 choroid plexus papillomas, 1 gemistocytic astrocytoma, and 1 glioblastoma multiforme. A literature review of all fetal cases specific to the pathologies presented in this series was also performed. Relative to the literature, this series contains a rare case of congenital gemistocytic astrocytoma. This series further sheds light on the diagnostic, histological, prognostic, and therapeutic differences between congenital brain tumors and tumors of the same pathology in older pediatric and adult populations.

Low-grade recurrence of a congenital high-grade supratentorial tumor with astrocytic features in the absence of adjuvant therapy.

The biological behavior of pediatric gliomas and embryonal tumors can be highly variable. A few case reports have described differentiation of primitive neuroectodermal tumors (PNETs) and medulloblastomas, presumably induced by adjuvant chemotherapy and/or radiation. Herein we describe a case of a congenital supratentorial high-grade tumor with astrocytic features that, after near-total surgical resection, was not treated with adjuvant therapies. Thirteen years later the patient presented with recurrent tumor at the original surgical site. The recurrent tumor had completely different morphology compared to the original, with evidence of ganglion cell differentiation and changes more reminiscent of a low-grade pleomorphic xanthoastrocytoma. To the authors' knowledge, this is the first documented case of an untreated high-grade pediatric tumor that spontaneously differentiated into a low grade tumor. The clinical and biological implications of this are briefly discussed.

Congenital tumors of the central nervous system: the MCH experience.

INTRODUCTION: Congenital brain tumors in the younger pediatric population are rare lesions that are histologically distinct from those in the older pediatric population. Malignant histology is common, with persistently poor outcomes despite accessible neuroimaging and evolving adjuvant therapy. There remains scant literature about the natural history of these patients because of rarity and varied institutional experiences. METHODS: A retrospective review was performed of congenital brain tumor patients surgically treated at the Montreal Children's Hospital (MCH) over a 22-year period. Patients presenting in the first year of life were evaluated for demographic information, presenting symptoms, lesion location, and management. Analysis was by median rank test and chi(2) statistics. RESULTS: 13 cases of congenital brain tumors were identified: 5 supratentorial and 8 infratentorial. Median age (p = 0.93) and gender (p = 0.57) did not differ by location, and predominant histologies were choroid plexus papilloma and primitive neuroectodermal tumor. Seizure activity was exclusive to supratentorial lesions (40%, p = 0.03), with hypotonia observed only among infratentorial lesions (50%, p = 0.02). There was equal incidence of hydrocephalus (69%, p = 0.57) and increasing head circumference (38%, p = 0.27) by lesion location. Supratentorial lesions were treated by total resection (n = 3), subtotal resection (n = 1), and biopsy (n = 1). Infratentorial lesions were treated by total resection (n = 1), subtotal resection (n = 2), biopsy (n = 1), no operation (n = 2), and decompressive laminectomy for two spinal lesions. CONCLUSIONS: Congenital brain tumor patients represent fewer than 2% of patients treated at MCH. An evolving understanding of management objectives for these lesions requires understanding institutional experiences. Patients with supratentorial lesions frequently present with seizures, hydrocephalus, and macrocrania, and more frequently underwent total resection at surgery.

[Intracerebral bleeding as the first symptom of a congenital anaplastic astrocytoma]. / Eine intrazerebrale Blutung als Initialsymptom eines konnatalen anaplastischen Astrozytoms.

BACKGROUND: Anaplastic astrocytomas in neonates are extremely rare. Newborns, however, often have neuroectodermal central nervous tumours. CASE REPORT: We report about a female term newborn (birth weight 3,600 g, APGAR 9/10/10), who had shrill screams, intermittent shivering and bradycardia. An ultrasound scan of the brain showed an intracerebral bleeding. Therefore, the child was transferred to the intensive care unit of our hospital. A CT scan showed cerebral bleeding in the left parieto-occipital region, partially clotted, with a space-demanding effect. The intracerebral bleeding in the left occipital region was cleared out. No tumour was found, but an anaplastic astrocytoma (WHO Grade III) was diagnosed histologically. Serial ultrasound investigations of the brain showed a normal midline and a redevelopment of the left-sided ventricle. After surgery no tumour was visible in the MRI. Six weeks later, a tumour was found in the area of the initial bleeding region on MRI. CONCLUSION: Congenital anaplastic astrocytomas have a variable outcome, with different survival rates as compared to adults. In the literature, survival rates of 36-50 % were found after complete tumour resection. In cases of neonatal intracerebral bleeding, a tumour might be the cause of the haemorrhage.

Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.

OBJECTS: Congenital Subependymal giant cell astrocytoma (SEGA), diagnosed in fetal and neonatal period, is extremely rare. Previous studies have reported poor surgical outcomes of this small group of patients. We encountered a patient diagnosed as congenital SEGA and report the surgical outcome along with interesting immuno-phenotypes of giant tumor cells. CASE: Ventriculomegaly and a hypoechoic mass near the foramen of Monro were detected in a fetus on prenatal ultrasonography in the 35th week of gestation. Surgery was scheduled 2 months later to reduce the risk of operative complications. At postnatal 2 months, gross total resection of the tumor was achieved without complications. The patient had been followed up for 1 year without tumor recurrence. In double immunofluorescence, the prototype cells of SEGA expressed a variety of neural stem cell (nestin and Sox2) and radial glial cell markers (vimentin and brain lipid-binding protein), in addition to glutamate/aspartate transporter and glial fibrillary acidic protein. CONCLUSIONS: Congenital SEGA can be successfully treated with judicious use of observation period and careful evaluation of general conditions. Pathological findings support the concept that SEGA may originate from aberrant radial glial cells in the developing brain.

Congenital anaplastic astrocytoma differentiated into pilocytic astrocytoma: an autopsy case.

We report an autopsy case of congenital astrocytoma and its histopathological changes during 5 years of the patient's development from birth to death. At birth, a right exophthalmic tumor was observed, and MRI revealed that the tumor occupied the right orbital space and had also affected the suprasellar diencephalic structures. The right orbital tumor, which was enucleated at 2 months of age, was a highly cellular tumor with moderate pleomorphism resembling anaplastic astrocytoma. On the other hand, at autopsy, a brain tumor was found in the right diencephalic region with features of pilocytic astrocytoma, accompanied by leptomeningeal dissemination. A biopsy specimen, which was obtained from the chiasmatic part of the tumor at 4 months of age, showed an intermediate appearance between the orbital tumor and the brain tumor obtained at autopsy. Immunohistochemical examination confirmed that all three phases of the tumors showed an astrocytic lineage, and the Ki-67 labeling index decreased rapidly after 2 months of age. We believe that this congenital anaplastic astrocytoma differentiated into a pilocytic astrocytoma during the 5 years of the patient's development. The transformation of the congenital astrocytoma from anaplastic to pilocytic forms can be attributed to the nature of the tumor, namely postmitotic neoplastic cells are characterized by their ability to undergo self-differentiation, along with the organotropism of the developing brain.

Neonatal subependymal giant cell astrocytoma: new case and review of literature.

Subependymal giant cell astrocytomas are one of the three major intracranial lesions found in tuberous sclerosis complex. Subependymal giant cell astrocytomas are typically slow-growing tumors of mixed glioneuronal lineage which can become aggressive and cause obstructive hydrocephalus usually in older children and adolescents. Neonatal subependymal giant cell astrocytomas are extremely rare, and their natural history and prognosis are poorly understood. This report investigates an extremely large neonatal subependymal giant cell astrocytoma which was initially identified in utero at 19 weeks of gestation in a high-risk pregnancy with no family history of tuberous sclerosis complex.

Surgical treatment of a neonate with refractory seizures secondary to congenital giant cell astrocytoma: case report and literature review.

Congenital brain tumours are rare. They account for 0.5% to 1.9% of intracranial tumours in childhood and have an incidence of 0.34 per million live births. Most congenital brain tumours are neuro-ectodermal tumours and medulloblastomas; giant cell astrocytoma and other tuberous sclerosis-related tumours are rare. We report on a neonate who developed seizures that were refractory to medical treatment. Imaging studies revealed a right frontal calcified tumour. Surgical resection was performed successfully and pathology revealed the tumour to be a giant cell astrocytoma. The child was seizure-free afterwards.

Successful chemotherapy for congenital malignant gliomas: a report of two cases.

We describe the cases of 2 patients with a congenital malignant glioma that responded to chemotherapy. In the first case, a 2-month-old boy had a conjugate deviation to the right side and nystagmus. A T(1)-weighted gadolinium-enhanced magnetic resonance image showed a large tumor in his right frontal lobe. The tumor was partially resected, and the histological diagnosis was malignant ganglioglioma. The child then underwent 6 cycles of chemotherapy (mainly carboplatin and etoposide), and the residual tumor shrank. The tumor was then partially resected during a second operation, after which the patient underwent 5 cycles of chemotherapy (a combination of carboplatin, etoposide, vincristine, ifosfamide, cisplatin and cyclophosphamide). The tumor has not recurred in more than 8.5 years. In the second case, a 2-month-old boy had bulging of the anterior fontanel. The T(1)-weighted gadolinium-enhanced magnetic resonance image showed a large suprasellar tumor. The tumor was partially resected, and the histological diagnosis was anaplastic astrocytoma. The patient underwent 8 cycles of chemotherapy (MCNU, carboplatin and etoposide) and the tumor has not recurred in more than 7.5 years. Our experience indicates that, if surgical removal and chemotherapy are done aggressively for malignant gliomas in neonates and infants, long-term survival is possible.

A congenital brain tumor associated with assisted in vitro fertilization. Case report.

In this report the authors describe the clinical features of a rare neonatal anaplastic astrocytoma in the setting of in vitro fertilization (IVF). The infant had been conceived using IVF and was born full term to a 29-year-old prima gravida mother. At birth, the baby boy was irritable and demonstrated poor feeding. Cranial ultrasonography and magnetic resonance imaging revealed an echogenic mass in the left hemisphere with midline shift and hydrocephalus. Grosstotal resection of an anaplastic astrocytoma was followed by chemotherapy with temozolomide and vincristine. Previous cases of neonatal brain tumors occurring in the setting of assisted reproduction are reviewed. A possible association between IVF and congenital neuroepithelial tumors is highlighted.

Neumoencéfalo a tensión tras cirugía intracraneal en posición supina / Tension pneumocephalus after intracraneal surgery in the supine position

El neumoencéfalo a tensión es una complicación grave, poco frecuente, que aparece tras cirugía de la fosa posterior con pacientes en posición sentada. Esta complicación puede amenazar la vida del paciente y requerir tratamiento inmediato. Sin embargo, el neumoencéfalo a tensión tras cirugía intracraneal en posición supina se ha publicado en raras ocasiones. Presentamos un caso de neumoencéfalo a tensión tras una craneotomía para la exéresis de un proceso expansivo frontotemporal izquierdo realizada en posición supina (AU)

Tension pneumocephalus is a rare and severe com¬plication appearing after posterior fossa procedures in the sitting position. This complication may endanger the pacientes life and require immediate treatment. However, tension pneumocephalus after neurosurgical procedure in the supine position have been scarcely reported. We report such a complication occurring in a 14-year-old girl submitted to a frontotemporal cra¬niotomy for removal of an astrocytome performed with the patient supine. We discuss ethiopathogenesis and management of this complication (AU)