Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.

Abstract

Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.

• Authors: Romina Moavero, Valentina Folgiero, Andrea Carai, Evelina Miele, Elisabetta Ferretti, Agnese Po, Francesca Diomedi Camassei, Francesca Romana Lepri, Federico Vigevano, Paolo Curatolo, Massimiliano Valeriani, Giovanna S Colafati, Franco Locatelli, Assunta Tornesello, Angela Mastronuzzi
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 63 Issue 4 Pg. 719-22 (Apr 2016) ISSN: 1545-5017 [Electronic] United States
• PMID: 26626406 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• MTOR protein, human
• TOR Serine-Threonine Kinases

Topics

• Blotting, Western
• Cerebellar Neoplasms (complications, genetics, pathology)
• DNA Mutational Analysis
• Female
• Humans
• Medulloblastoma (complications, genetics, pathology)
• TOR Serine-Threonine Kinases (biosynthesis)
• Tuberous Sclerosis (complications, genetics)