Malignant transformation of diffuse astrocytoma to glioblastoma associated with newly developed BRAF V600E mutation

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• 作者：Masayuki Kanamori ; Hiroyoshi Suzuki ; Hidehiro Takei…
• 关键词：Secondary glioblastoma ; BRAF mutation ; Malignant transformation
• 刊名：Brain Tumor Pathology
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：33
• 期：1
• 页码：50-56
• 全文大小：1,955 KB
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• 作者单位：Masayuki Kanamori (1)
  Hiroyoshi Suzuki (2)
  Hidehiro Takei (3)
  Yukihiko Sonoda (1) (4)
  Hiroshi Uenohara (1)
  Teiji Tominaga (4)
  
  1. Department of Neurosurgery, Sendai Medical Center, 2-8-8 Miyagino, Miyagino-ku, Sendai, Miyagi, 983-8520, Japan
  2. Department of Pathology and Laboratory Medicine, Sendai Medical Center, Sendai, Miyagi, Japan
  3. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Cornell Medical College, Houston, TX, USA
  4. Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
  
• 刊物主题：Neurosurgery; Neurology; Pathology; Oncology; Cancer Research;
• 出版者：Springer Japan
• ISSN：1861-387X

文摘

A 29-year-old man presented with scintillation scotoma. MR imaging demonstrated a diffuse lesion in right parahippocampal gyrus. He underwent a biopsy, and the diagnosis was diffuse astrocytoma. Because of enlargement and new areas of gadolinium enhancement, the tumor was resected 18 months after biopsy. Histological examination revealed malignant transformation to glioblastoma with small areas of epithelioid component. He received radiation and temozolomide chemotherapy. Local recurrence was found 20 months after first resection. He underwent second resection, and the diagnosis was glioblastoma. DNA from the micro-dissected paraffin-embedded sections were analyzed for the mutation of the isocitrate dehydrogenase1 (IDH1) and IDH2 and v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) genes. No mutations of the IDH genes were detected in any tumor specimen. In contrast, missense mutation at codon 600 in the BRAF gene (BRAF V600E) was found exclusively in the malignant areas from both resected glioblastoma specimens. We screened other genetic aberrations commonly seen in glioblastoma with multiplex ligation-dependent probe analysis. Deletion of CDKN2A and CDKN2B loci was found both in diffuse astrocytoma and glioblastoma component, but no other significant alterations were found. This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma. Keywords Secondary glioblastoma BRAF mutation Malignant transformation