Academic Journal
Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with Down syndrome
| العنوان: | Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with Down syndrome |
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| المؤلفون: | 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. |
| المساهمون: | 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. |
| بيانات النشر: | Frontiers Media S.A. |
| سنة النشر: | 2019 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | BRAF V600E mutation, brain tumor, Down syndrome, pleomorphic xanthoastrocytoma, vemurafenib |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/31032231; info:eu-repo/semantics/altIdentifier/wos/WOS:000464374400001; volume:9; issue:APR; numberofpages:6; journal:FRONTIERS IN ONCOLOGY; http://hdl.handle.net/11573/1480032; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067423488 |
| DOI: | 10.3389/fonc.2019.00277 |
| الاتاحة: | http://hdl.handle.net/11573/1480032 https://doi.org/10.3389/fonc.2019.00277 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.AC4EF818 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fonc.2019.00277 |
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