Brain tumors are the most common solid neoplasms of childhood, but they are very rarely reported in children with Down Syndrome (DS), who develop more commonly different types of malignancies. In particular, we hereby report the case of an 8-years-old child with DS that presented to our attention for neurological and endocrinological issues. Brain imaging revealed the presence of a mass that was partially resected revealing a histological diagnosis of Pleomorphic Xanthoastrocytoma (PXA), a rare WHO grade II tumor extending from the diencephalic region into the surrounding brain tissue. These tumors can harbor the BRAF mutation p.V600E, targetable by the specific inhibitor Vemurafenib. After confirming the presence of the mutation in the tumor, the patient was treated with Vemurafenib. The treatment proved to be effective, leading to a partial response and a stabilization of the disease. Usually, in patients with DS a reduction of the dose of chemotherapeutic drugs is necessary. Vemurafenib was instead well-tolerated as the only observed adverse effect was grade I skin toxicity. This is, to our knowledge, the first case of a PXA reported in a child with DS and the first DS patient treated with Vemurafenib.

Petruzzellis, G., Valentini, D., Del Bufalo, F., Ceglie, G., Carai, A., Colafati, G. S., Agolini, E., Diomedi-Camassei, F., Corsetti, T., Alessi, I., Mastronuzzi, A., Locatelli, F., Cacchione, A., Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with down syndrome, <<FRONTIERS IN ONCOLOGY>>, 2019; 9 (APR): 1-6. [doi:10.3389/fonc.2019.00277] [https://hdl.handle.net/10807/229193]

Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with down syndrome

Locatelli, Franco
Penultimo
Writing – Review & Editing
;
2019

Abstract

Brain tumors are the most common solid neoplasms of childhood, but they are very rarely reported in children with Down Syndrome (DS), who develop more commonly different types of malignancies. In particular, we hereby report the case of an 8-years-old child with DS that presented to our attention for neurological and endocrinological issues. Brain imaging revealed the presence of a mass that was partially resected revealing a histological diagnosis of Pleomorphic Xanthoastrocytoma (PXA), a rare WHO grade II tumor extending from the diencephalic region into the surrounding brain tissue. These tumors can harbor the BRAF mutation p.V600E, targetable by the specific inhibitor Vemurafenib. After confirming the presence of the mutation in the tumor, the patient was treated with Vemurafenib. The treatment proved to be effective, leading to a partial response and a stabilization of the disease. Usually, in patients with DS a reduction of the dose of chemotherapeutic drugs is necessary. Vemurafenib was instead well-tolerated as the only observed adverse effect was grade I skin toxicity. This is, to our knowledge, the first case of a PXA reported in a child with DS and the first DS patient treated with Vemurafenib.
2019
Inglese
Petruzzellis, G., Valentini, D., Del Bufalo, F., Ceglie, G., Carai, A., Colafati, G. S., Agolini, E., Diomedi-Camassei, F., Corsetti, T., Alessi, I., Mastronuzzi, A., Locatelli, F., Cacchione, A., Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with down syndrome, <<FRONTIERS IN ONCOLOGY>>, 2019; 9 (APR): 1-6. [doi:10.3389/fonc.2019.00277] [https://hdl.handle.net/10807/229193]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/229193
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