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Glioblastoma multiforme in a child with tuberous sclerosis complex
Author(s) -
Vignoli Aglaia,
Lesma Elena,
Alfano Rosa Maria,
Peron Angela,
Scornavacca Giulia Federica,
Massimino Maura,
Schiavello Elisabetta,
Ancona Silvia,
Cerati Michele,
Bulfamante Gaetano,
Gorio Alfredo,
Canevini Maria Paola
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37158
Subject(s) - tuberous sclerosis , glioblastoma , medicine , pathology , cancer research
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. © 2015 Wiley Periodicals, Inc.