TY - JOUR
T1 - Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor
AU - Moavero, Romina
AU - Folgiero, Valentina
AU - Carai, Andrea
AU - Miele, Evelina
AU - Ferretti, Elisabetta
AU - Po, Agnese
AU - Diomedi Camassei, Francesca
AU - Lepri, Francesca Romana
AU - Vigevano, Federico
AU - Curatolo, Paolo
AU - Valeriani, Massimiliano
AU - Colafati, Giovanna S.
AU - Locatelli, Franco
AU - Tornesello, Assunta
AU - Mastronuzzi, Angela
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Medulloblastoma
KW - TSC1/2
KW - MTOR
KW - Medulloblastoma
KW - TSC1/2
KW - MTOR
UR - http://hdl.handle.net/10807/228573
U2 - 10.1002/pbc.25851
DO - 10.1002/pbc.25851
M3 - Article
SN - 1545-5009
VL - 63
SP - 719
EP - 722
JO - PEDIATRIC BLOOD & CANCER
JF - PEDIATRIC BLOOD & CANCER
ER -