Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation
Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mo...
Ausführliche Beschreibung
Autor*in: |
Fernandez-Vega, Ivan [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2013 |
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Schlagwörter: |
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Anmerkung: |
© Arányi Lajos Foundation 2013 |
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Übergeordnetes Werk: |
Enthalten in: Pathology & oncology research - Heidelberg : Springer, 1995, 20(2013), 1 vom: 19. Dez., Seite 215-220 |
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Übergeordnetes Werk: |
volume:20 ; year:2013 ; number:1 ; day:19 ; month:12 ; pages:215-220 |
Links: |
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DOI / URN: |
10.1007/s12253-013-9732-z |
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Katalog-ID: |
SPR025072617 |
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520 | |a Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. | ||
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650 | 4 | |a Gliomatosis cerebri |7 (dpeaa)DE-He213 | |
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650 | 4 | |a Spinal cord |7 (dpeaa)DE-He213 | |
700 | 1 | |a Quirk, Jennifer |4 aut | |
700 | 1 | |a Norwood, Fiona L. |4 aut | |
700 | 1 | |a Sibtain, Naomi A. |4 aut | |
700 | 1 | |a Laxton, Ross |4 aut | |
700 | 1 | |a Bodi, Istvan |4 aut | |
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2013 |
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10.1007/s12253-013-9732-z doi (DE-627)SPR025072617 (SPR)s12253-013-9732-z-e DE-627 ger DE-627 rakwb eng Fernandez-Vega, Ivan verfasserin aut Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Arányi Lajos Foundation 2013 Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 Quirk, Jennifer aut Norwood, Fiona L. aut Sibtain, Naomi A. aut Laxton, Ross aut Bodi, Istvan aut Enthalten in Pathology & oncology research Heidelberg : Springer, 1995 20(2013), 1 vom: 19. Dez., Seite 215-220 (DE-627)32042054X (DE-600)2002501-4 1532-2807 nnns volume:20 year:2013 number:1 day:19 month:12 pages:215-220 https://dx.doi.org/10.1007/s12253-013-9732-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 20 2013 1 19 12 215-220 |
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10.1007/s12253-013-9732-z doi (DE-627)SPR025072617 (SPR)s12253-013-9732-z-e DE-627 ger DE-627 rakwb eng Fernandez-Vega, Ivan verfasserin aut Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Arányi Lajos Foundation 2013 Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 Quirk, Jennifer aut Norwood, Fiona L. aut Sibtain, Naomi A. aut Laxton, Ross aut Bodi, Istvan aut Enthalten in Pathology & oncology research Heidelberg : Springer, 1995 20(2013), 1 vom: 19. Dez., Seite 215-220 (DE-627)32042054X (DE-600)2002501-4 1532-2807 nnns volume:20 year:2013 number:1 day:19 month:12 pages:215-220 https://dx.doi.org/10.1007/s12253-013-9732-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 20 2013 1 19 12 215-220 |
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10.1007/s12253-013-9732-z doi (DE-627)SPR025072617 (SPR)s12253-013-9732-z-e DE-627 ger DE-627 rakwb eng Fernandez-Vega, Ivan verfasserin aut Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Arányi Lajos Foundation 2013 Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 Quirk, Jennifer aut Norwood, Fiona L. aut Sibtain, Naomi A. aut Laxton, Ross aut Bodi, Istvan aut Enthalten in Pathology & oncology research Heidelberg : Springer, 1995 20(2013), 1 vom: 19. Dez., Seite 215-220 (DE-627)32042054X (DE-600)2002501-4 1532-2807 nnns volume:20 year:2013 number:1 day:19 month:12 pages:215-220 https://dx.doi.org/10.1007/s12253-013-9732-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 20 2013 1 19 12 215-220 |
allfieldsGer |
10.1007/s12253-013-9732-z doi (DE-627)SPR025072617 (SPR)s12253-013-9732-z-e DE-627 ger DE-627 rakwb eng Fernandez-Vega, Ivan verfasserin aut Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Arányi Lajos Foundation 2013 Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 Quirk, Jennifer aut Norwood, Fiona L. aut Sibtain, Naomi A. aut Laxton, Ross aut Bodi, Istvan aut Enthalten in Pathology & oncology research Heidelberg : Springer, 1995 20(2013), 1 vom: 19. Dez., Seite 215-220 (DE-627)32042054X (DE-600)2002501-4 1532-2807 nnns volume:20 year:2013 number:1 day:19 month:12 pages:215-220 https://dx.doi.org/10.1007/s12253-013-9732-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 20 2013 1 19 12 215-220 |
allfieldsSound |
10.1007/s12253-013-9732-z doi (DE-627)SPR025072617 (SPR)s12253-013-9732-z-e DE-627 ger DE-627 rakwb eng Fernandez-Vega, Ivan verfasserin aut Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Arányi Lajos Foundation 2013 Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 Quirk, Jennifer aut Norwood, Fiona L. aut Sibtain, Naomi A. aut Laxton, Ross aut Bodi, Istvan aut Enthalten in Pathology & oncology research Heidelberg : Springer, 1995 20(2013), 1 vom: 19. Dez., Seite 215-220 (DE-627)32042054X (DE-600)2002501-4 1532-2807 nnns volume:20 year:2013 number:1 day:19 month:12 pages:215-220 https://dx.doi.org/10.1007/s12253-013-9732-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 20 2013 1 19 12 215-220 |
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English |
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Enthalten in Pathology & oncology research 20(2013), 1 vom: 19. Dez., Seite 215-220 volume:20 year:2013 number:1 day:19 month:12 pages:215-220 |
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Enthalten in Pathology & oncology research 20(2013), 1 vom: 19. Dez., Seite 215-220 volume:20 year:2013 number:1 day:19 month:12 pages:215-220 |
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Fernandez-Vega, Ivan @@aut@@ Quirk, Jennifer @@aut@@ Norwood, Fiona L. @@aut@@ Sibtain, Naomi A. @@aut@@ Laxton, Ross @@aut@@ Bodi, Istvan @@aut@@ |
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author |
Fernandez-Vega, Ivan |
spellingShingle |
Fernandez-Vega, Ivan misc Glioma misc Gliomatosis cerebri misc BRAF V600E misc Brain misc Spinal cord Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation |
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Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation Glioma (dpeaa)DE-He213 Gliomatosis cerebri (dpeaa)DE-He213 BRAF V600E (dpeaa)DE-He213 Brain (dpeaa)DE-He213 Spinal cord (dpeaa)DE-He213 |
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misc Glioma misc Gliomatosis cerebri misc BRAF V600E misc Brain misc Spinal cord |
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Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation |
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Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation |
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gliomatosis cerebri type 1 with extensive involvement of the spinal cord and braf v600e mutation |
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Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation |
abstract |
Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. © Arányi Lajos Foundation 2013 |
abstractGer |
Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. © Arányi Lajos Foundation 2013 |
abstract_unstemmed |
Abstract Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances were static over a year. No biopsy was performed. The patient received palliative care and died 2 years after initial presentation. Macroscopic examination of the brain showed an extensive firm white-grey lesion predominantly in the cerebellar white matter, the brainstem, spreading to the full length of the spinal cord and invading the sensory ganglia. Histology revealed an extensively infiltrating diffuse glioma with small elongated fusiform nuclei. Diagnosis of GC type 1 was made. Molecular genetic tests revealed BRAF V600E mutation, while no IDH1 & IDH2 mutations were found. GC should be taken into account in the differential diagnoses mainly when there is rapid clinical deterioration without clear evidence of radiological progression. Extensive spinal cord infiltration has been reported only in 9 % and BRAF V600E mutation was detected only in one case in GC previously. Future clinical trials should address whether BRAF V600E mutant brain tumour patients will benefit from BRAF V600E-directed targeted therapies. © Arányi Lajos Foundation 2013 |
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title_short |
Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation |
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https://dx.doi.org/10.1007/s12253-013-9732-z |
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Quirk, Jennifer Norwood, Fiona L. Sibtain, Naomi A. Laxton, Ross Bodi, Istvan |
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up_date |
2024-07-03T13:40:15.547Z |
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score |
7.3998213 |