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Tytuł:
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Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy.
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Autorzy:
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Martinez-Gutierrez JC; Division of Hematology and Oncology, Department of Medicine.; Division of Neuro-Oncology, Department of Neurology, and.; North Shore Medical Center, Salem, Massachusetts.
D'Andrea MR; Division of Hematology and Oncology, Department of Medicine.; Division of Neuro-Oncology, Department of Neurology, and.
Cahill DP; Department of Neurological Surgery, Massachusetts General Hospital, Boston.
Santagata S; Department of Pathology, Brigham and Women's Hospital, Boston; and.
Barker FG 2nd; Department of Neurological Surgery, Massachusetts General Hospital, Boston.
Brastianos PK; Division of Hematology and Oncology, Department of Medicine.; Division of Neuro-Oncology, Department of Neurology, and.
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Źródło:
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Neurosurgical focus [Neurosurg Focus] 2016 Dec; Vol. 41 (6), pp. E2.
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Typ publikacji:
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Journal Article; Review
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Język:
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English
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Imprint Name(s):
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Original Publication: Charlottesville, VA : American Association of Neurological Surgeons, c1996-
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MeSH Terms:
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Disease Management*
Craniopharyngioma/*diagnostic imaging
Craniopharyngioma/*therapy
Gene Targeting/*trends
Genomics/*trends
Pituitary Neoplasms/*diagnostic imaging
Pituitary Neoplasms/*therapy
Biomarkers, Tumor/genetics ; Clinical Trials as Topic/methods ; Craniopharyngioma/genetics ; Humans ; Mutation/genetics ; Pituitary Neoplasms/genetics ; beta Catenin/genetics
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Contributed Indexing:
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Keywords: ACP = adamantinomatous craniopharyngioma; BRAF V600E; PCP = papillary craniopharyngioma; RCC = Rathke's cleft cyst; craniopharyngioma; genomics; targeted therapy
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Substance Nomenclature:
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0 (Biomarkers, Tumor)
0 (CTNNB1 protein, human)
0 (beta Catenin)
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Entry Date(s):
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Date Created: 20161202 Date Completed: 20170228 Latest Revision: 20170817
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Update Code:
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20240105
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DOI:
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10.3171/2016.9.FOCUS16325
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PMID:
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27903124
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Craniopharyngiomas are rare intracranial neoplasms that pose clinical challenges due to their location adjacent to vital structures. The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. These activating driver mutations are potential therapeutic targets, and the authors have recently reported a significant response to BRAF/MEK inhibition in a patient with multiply recurrent PCP. As these targetable mutations warrant prospective research, the authors will be conducting a national National Cancer Institute-sponsored multicenter clinical trial to investigate BRAF/MEK inhibition in the treatment of craniopharyngioma. In this new era of genomic discovery, the treatment paradigm of craniopharyngioma is likely to change.