Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex

Abstract

PurposeSubependymal 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.MethodsCohort 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.ResultsTen (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.ConclusionsCongenital 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.

Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study

“…The reason for such predominance is not known, but it may be related to the fact that second mutational hits arise more frequently in TSC2 and to the different embryological events during cerebellar development when compared with cerebral cortex development. Interestingly, preference for a specific genotype, specifically TSC2 , has already been reported for other TSC manifestations, including cyst‐like cerebral tubers, arachnoid cysts, and congenital subependymal giant cell astrocytomas …”

“…Interestingly, preference for a specific genotype, specifically TSC2, has already been reported for other TSC manifestations, including cyst-like cerebral tubers, 16 arachnoid cysts, 17 and congenital subependymal giant cell astrocytomas. 18 There are limitations to our study, including its retrospective nature and the potential selection bias, as our hospital is a large TSC referral centre, which may therefore over-represent patients with TSC with a more severe phenotype.…”

Congenital Brain Tumor within the First 2 Months of Life

“…Germinal tumors are observed between 22 weeks and 32 weeks, and gliomas such as astrocytomas and glioblastomas are detected after 32 weeks. 22,23 On average, the gestational age at diagnosis is 27 weeks for teratomas, 21 weeks for hamartomas, and 34 weeks for gliomas. 11 No information is available on the relevant gestational age for the other types of CBTs.…”

Perinatal (fetal and neonatal) astrocytoma: a review

“…One nontreated neonate was lost to follow-up. Nine of 11 infants treated with either surgical resection alone or surgery plus evorolimus chemotherapy survived [40, 51, 56, 60, 64]. Overall survival rate was 70.6 % (Table 3).…”