Identification and targeting of an FGFR fusion in a pediatric thalamic "central oligodendroglioma".

Identification and targeting of an FGFR fusion in a pediatric thalamic "central oligodendroglioma".
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DOI:
10.1038/s41698-017-0036-8
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发表时间:
2017
影响因子:
7.9
通讯作者:
Koschmann C
Koschmann C
中科院分区:
医学1区
文献类型:
--
作者:
Linzey JR;Marini B;McFadden K;Lorenzana A;Mody R;Robertson PL;Koschmann C

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Approximately 1–5% of pediatric intracranial tumors originate in the thalamus. While great strides have been made to identify consistent molecular markers in adult oligodendrogliomas, such as the 1p/19q co-deletion, it is widely recognized that pediatric oligodendrogliomas have a vastly different molecular make-up. While pediatric thalamic or “central oligodendrogliomas” are histologically similar to peripheral pediatric oligodendrogliomas, they are behaviorally distinct and likely represent a cohesive, but entirely different entity. We describe a case of a 10-year-old girl who was diagnosed with an anaplastic glioma with features consistent with the aggressive entity often diagnosed as central or thalamic oligodendroglioma. We performed whole-exome (paired tumor and germline DNA) and transcriptome (tumor RNA) sequencing, which demonstrated an FGFR3-PHGDH fusion. We describe this fusion and our rationale for pursuing personalized, targeted therapy for the patient’s tumor that may potentially play a role in the treatment of similar cases.
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影响因子: 4.1
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发表时间: 2003-05-01
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