Artikel
MGMT Promoter Methylation And BRAF V600E Mutations Are Helpful Markers To Discriminate Pleomorphic Xanthoastrocytoma From Giant Cell Glioblastoma
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Autoren
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Arend Koch
- Charité Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany
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Maren Bradtmöller
- Charite Universitätsmedizin Berlin, Dept. of Neuropathology, Berlin, Germany
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Laura-Nanna Lohkamp
- Charité Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany
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Claire Gehlhaar
- Charité Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany
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Katrin Guse
- Charité Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany
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Ulrich-Wilhelm Thomale
- Charité Universitätsmedizin Berlin, Department of Neurosurgery and Pediatric Neurosurgery, Berlin, Germany
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Peter Vajkoczy
- Charité Universitätsmedizin Berlin, Department of Neurosurgery and Pediatric Neurosurgery, Berlin, Germany
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Frank Heppner
- Charité Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany
| Veröffentlicht: | 25. August 2015 |
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Gliederung
Text
Giant Cell Glioblastoma (gcGBM) and Pleomorphic Xanthoastrocytoma (PXA) are rare astroglial tumors of the central nervous system. Although they share certain histomorphological and immunohistochemical features, they are characterized by different clinical behavior and prognosis. Nevertheless, few cases remain uncertain, as their histomorphological hallmarks and immunophenotypes do correspond to the typical pattern neither of gcGBM nor PXA.
Therefore, in addition to the routinely used diagnostic histochemical and immunohistochemical markers like Gömöri, p53 and CD34, we analyzed if genetic variations like MGMT promoter methylation, mutations in the IDH1/2 genes, or BRAF mutations, which actually used for important diagnostic, prognostic and predictive molecular markers in anaplastic glial tumors, could be helpful in the differential diagnostic of both tumor entities.
We analyzed 34 gcGBM and 20 PXA for genetic variations in the above-named genes and found distinct distributions between both groups. MGMT promoter hypermethylation was observed in only 2 out of 20 PXA (10%) compared to 14 out of 34 gcGBM (41.2%). BRAF V600E mutations were detected in 55% of the PXA but not in any of the gcGBM. IDH1 R132 and IDH R172 mutations were not present in any of the PXA and gcGBM cases.
Our data indicate, that in addition to the histological and immunohistochemical evaluation, investigation of MGMT promoter methylation and BRAF V600E mutations are reliable additional molecular markers to differentiate gcGBM from PXA. Based on these data specific BRAF kinase inhibitors could represent a promising tool in the therapy of PXA and their use should be emphasized.
