Tuberous Sclerosis Complex (TSC) is characterized by the presence of benign tumors in the brain, kidneys, heart, eyes, lungs, and skin. The typical brain lesions are cortical tubers, subependimal nodules and subependymal giant-cell astrocytomas. The occurrence of malignant astrocytomas such as glioblastoma is rare. We report on a child with a clinical diagnosis of TSC and a rapidly evolving glioblastoma multiforme. Genetic analysis identified a de novo mutation in TSC2. Molecular characterization of the tumor was performed and discussed, as well as a review of the literature where cases of TSC and glioblastoma multiforme are described. Although the co-occurrence of TSC and glioblastoma multiforme seems to be rare, this possible association should be kept in mind, and proper clinical and radiological follow up should be recommended in these patients.
Glioblastoma multiforme in a child with tuberous sclerosis complex / A. Vignoli, E. Lesma, R.M. Alfano, A. Peron, G.F. Scornavacca, M. Massimino, E. Schiavello, S. Ancona, M. Cerati, G. Bulfamante, A. Gorio, M.P. Canevini. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 167:10(2015 Oct), pp. 2388-2393. [10.1002/ajmg.a.37158]
Glioblastoma multiforme in a child with tuberous sclerosis complex
A. VignoliPrimo
;E. LesmaSecondo
;A. Peron;E. Schiavello;S. Ancona;G. Bulfamante;A. GorioPenultimo
;M.P. CaneviniUltimo
2015
Abstract
Tuberous Sclerosis Complex (TSC) is characterized by the presence of benign tumors in the brain, kidneys, heart, eyes, lungs, and skin. The typical brain lesions are cortical tubers, subependimal nodules and subependymal giant-cell astrocytomas. The occurrence of malignant astrocytomas such as glioblastoma is rare. We report on a child with a clinical diagnosis of TSC and a rapidly evolving glioblastoma multiforme. Genetic analysis identified a de novo mutation in TSC2. Molecular characterization of the tumor was performed and discussed, as well as a review of the literature where cases of TSC and glioblastoma multiforme are described. Although the co-occurrence of TSC and glioblastoma multiforme seems to be rare, this possible association should be kept in mind, and proper clinical and radiological follow up should be recommended in these patients.File | Dimensione | Formato | |
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