Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

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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.

Original languageEnglish
Pages (from-to)277
JournalFrontiers in Oncology
Volume9
DOIs
Publication statusPublished - Apr 12 2019

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Down Syndrome
Neoplasms
Therapeutics
Mutation
Neuroimaging
Brain Neoplasms
PLX4032
Skin
Brain
Pharmaceutical Preparations

Cite this

@article{a5b245e0f22343ccb6e486ba4af1e7e1,
title = "Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome",
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.",
author = "Giuseppe Petruzzellis and Diletta Valentini and {Del Bufalo}, Francesca and Giulia Ceglie and Andrea Carai and Colafati, {Giovanna Stefania} and Emanuele Agolini and Francesca Diomedi-Camassei and Tiziana Corsetti and Iside Alessi and Angela Mastronuzzi and Franco Locatelli and Antonella Cacchione",
year = "2019",
month = "4",
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doi = "10.3389/fonc.2019.00277",
language = "English",
volume = "9",
pages = "277",
journal = "Frontiers in Oncology",
issn = "2234-943X",
publisher = "Frontiers Media S. A.",

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TY - JOUR

T1 - Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

AU - Petruzzellis, Giuseppe

AU - Valentini, Diletta

AU - Del Bufalo, Francesca

AU - Ceglie, Giulia

AU - Carai, Andrea

AU - Colafati, Giovanna Stefania

AU - Agolini, Emanuele

AU - Diomedi-Camassei, Francesca

AU - Corsetti, Tiziana

AU - Alessi, Iside

AU - Mastronuzzi, Angela

AU - Locatelli, Franco

AU - Cacchione, Antonella

PY - 2019/4/12

Y1 - 2019/4/12

N2 - 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.

AB - 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.

U2 - 10.3389/fonc.2019.00277

DO - 10.3389/fonc.2019.00277

M3 - Article

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JO - Frontiers in Oncology

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