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| ==Cancer Category/Type== | | ==Cancer Category/Type== |
| | | |
− | * Diffuse astrocytic and olidodendroglial tumors | + | *Diffuse astrocytic and olidodendroglial tumors |
| | | |
| ==Cancer Sub-Classification / Subtype== | | ==Cancer Sub-Classification / Subtype== |
| | | |
− | Glioblastoma, IDH-wildtype (IDH-wt) | + | [[Glioblastoma, IDH-wildtype (IDH-wt)]] |
| | | |
| ==Definition / Description of Disease== | | ==Definition / Description of Disease== |
| | | |
− | * Rare histologic variant of IDH-wt glioblastoma <ref name=":0">WHO Classification of Tumours of the Central Nervous System, 4th ed, Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (Eds), IARC, Lyon 2016. Pg 46-47</ref> | + | *Rare histologic variant of IDH-wt glioblastoma <ref name=":0">WHO Classification of Tumours of the Central Nervous System, 4th ed, Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (Eds), IARC, Lyon 2016. Pg 46-47</ref> |
− | * Large, multinucleate giant cells with occasional abundant reticuln network <ref name=":0" /> | + | *Large, multinucleate giant cells with occasional abundant reticuln network <ref name=":0" /> |
| | | |
| ==Synonyms / Terminology== | | ==Synonyms / Terminology== |
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| ==Epidemiology / Prevalence== | | ==Epidemiology / Prevalence== |
| | | |
− | * Constitute <1% of glioblastomas <ref name=":1">{{Cite journal|last=Ortega|first=Alicia|last2=Nuño|first2=Miriam|last3=Walia|first3=Sartaaj|last4=Mukherjee|first4=Debraj|last5=Black|first5=Keith L.|last6=Patil|first6=Chirag G.|date=2014|title=Treatment and survival of patients harboring histological variants of glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/24980627|journal=Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia|volume=21|issue=10|pages=1709–1713|doi=10.1016/j.jocn.2014.05.003|issn=1532-2653|pmid=24980627}}</ref> | + | *Constitute <1% of glioblastomas <ref name=":1">{{Cite journal|last=Ortega|first=Alicia|last2=Nuño|first2=Miriam|last3=Walia|first3=Sartaaj|last4=Mukherjee|first4=Debraj|last5=Black|first5=Keith L.|last6=Patil|first6=Chirag G.|date=2014|title=Treatment and survival of patients harboring histological variants of glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/24980627|journal=Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia|volume=21|issue=10|pages=1709–1713|doi=10.1016/j.jocn.2014.05.003|issn=1532-2653|pmid=24980627}}</ref> |
− | * May be more common in pediatric population <ref name=":2">{{Cite journal|last=Kozak|first=Kevin R.|last2=Moody|first2=John S.|date=2009|title=Giant cell glioblastoma: a glioblastoma subtype with distinct epidemiology and superior prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/19332771|journal=Neuro-Oncology|volume=11|issue=6|pages=833–841|doi=10.1215/15228517-2008-123|issn=1523-5866|pmc=2802403|pmid=19332771}}</ref> | + | *May be more common in pediatric population <ref name=":2">{{Cite journal|last=Kozak|first=Kevin R.|last2=Moody|first2=John S.|date=2009|title=Giant cell glioblastoma: a glioblastoma subtype with distinct epidemiology and superior prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/19332771|journal=Neuro-Oncology|volume=11|issue=6|pages=833–841|doi=10.1215/15228517-2008-123|issn=1523-5866|pmc=2802403|pmid=19332771}}</ref> |
− | * Mean age 51 years <ref name=":2" /> | + | *Mean age 51 years <ref name=":2" /> |
| | | |
| ==Clinical Features== | | ==Clinical Features== |
| | | |
− | * No evidence of a precursor lesion <ref name=":0" /> | + | *No evidence of a precursor lesion <ref name=":0" /> |
− | * Presenting symptoms similar to IDH-wt glioblastoma | + | *Presenting symptoms similar to IDH-wt glioblastoma |
− | * Radiographically and grossly circumscribed borders, may be mistaken for other neoplastic or non-neoplastic lesions <ref>{{Cite journal|last=Turner|first=Ryan|last2=Matthys|first2=Samuel|last3=Heymann|first3=John|last4=Gelman|first4=Benjamin|date=2018|title=Imaging findings in the progression of a giant cell glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/30128062|journal=Radiology Case Reports|volume=13|issue=5|pages=1007–1011|doi=10.1016/j.radcr.2018.07.010|issn=1930-0433|pmc=6097408|pmid=30128062}}</ref> | + | *Radiographically and grossly circumscribed borders, may be mistaken for other neoplastic or non-neoplastic lesions <ref>{{Cite journal|last=Turner|first=Ryan|last2=Matthys|first2=Samuel|last3=Heymann|first3=John|last4=Gelman|first4=Benjamin|date=2018|title=Imaging findings in the progression of a giant cell glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/30128062|journal=Radiology Case Reports|volume=13|issue=5|pages=1007–1011|doi=10.1016/j.radcr.2018.07.010|issn=1930-0433|pmc=6097408|pmid=30128062}}</ref> |
| | | |
| ==Sites of Involvement== | | ==Sites of Involvement== |
| | | |
− | * Localization similar to IDH-wt glioblastoma <ref name=":2" /><ref name=":1" /> | + | *Localization similar to IDH-wt glioblastoma <ref name=":2" /><ref name=":1" /> |
| | | |
| ==Morphologic Features== | | ==Morphologic Features== |
| | | |
− | * Bizarre, multi-nucleate giant cells with atypical mitotic figures <ref>{{Cite journal|last=Margetts|first=J. C.|last2=Kalyan-Raman|first2=U. P.|date=1989|title=Giant-celled glioblastoma of brain. A clinico-pathological and radiological study of ten cases (including immunohistochemistry and ultrastructure)|url=https://www.ncbi.nlm.nih.gov/pubmed/2912529|journal=Cancer|volume=63|issue=3|pages=524–531|doi=10.1002/1097-0142(19890201)63:33.0.co;2-d|issn=0008-543X|pmid=2912529}}</ref> | + | *Bizarre, multi-nucleate giant cells with atypical mitotic figures <ref>{{Cite journal|last=Margetts|first=J. C.|last2=Kalyan-Raman|first2=U. P.|date=1989|title=Giant-celled glioblastoma of brain. A clinico-pathological and radiological study of ten cases (including immunohistochemistry and ultrastructure)|url=https://www.ncbi.nlm.nih.gov/pubmed/2912529|journal=Cancer|volume=63|issue=3|pages=524–531|doi=10.1002/1097-0142(19890201)63:33.0.co;2-d|issn=0008-543X|pmid=2912529}}</ref> |
− | * Cells may contain numerous nuclei <ref name=":0" /> | + | *Cells may contain numerous nuclei <ref name=":0" /> |
− | * Palisading and ischemic necrosis <ref name=":0" /> | + | *Palisading and ischemic necrosis <ref name=":0" /> |
− | * Pseudo-rosette like perivascular tumor cell concentration <ref name=":0" /> | + | *Pseudo-rosette like perivascular tumor cell concentration <ref name=":0" /> |
| | | |
| [[File:GCG sample image.png|thumb|Hematoxylin and Eosin stained section of giant cell glioblastoma showing bizarre multinucleate cells]] | | [[File:GCG sample image.png|thumb|Hematoxylin and Eosin stained section of giant cell glioblastoma showing bizarre multinucleate cells]] |
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| |Positive (variable level)||GFAP <ref name=":3">{{Cite journal|last=Katoh|first=M.|last2=Aida|first2=T.|last3=Sugimoto|first3=S.|last4=Suwamura|first4=Y.|last5=Abe|first5=H.|last6=Isu|first6=T.|last7=Kaneko|first7=S.|last8=Mitsumori|first8=K.|last9=Kojima|first9=H.|date=1995|title=Immunohistochemical analysis of giant cell glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/7550996|journal=Pathology International|volume=45|issue=4|pages=275–282|doi=10.1111/j.1440-1827.1995.tb03456.x|issn=1320-5463|pmid=7550996}}</ref> | | |Positive (variable level)||GFAP <ref name=":3">{{Cite journal|last=Katoh|first=M.|last2=Aida|first2=T.|last3=Sugimoto|first3=S.|last4=Suwamura|first4=Y.|last5=Abe|first5=H.|last6=Isu|first6=T.|last7=Kaneko|first7=S.|last8=Mitsumori|first8=K.|last9=Kojima|first9=H.|date=1995|title=Immunohistochemical analysis of giant cell glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/7550996|journal=Pathology International|volume=45|issue=4|pages=275–282|doi=10.1111/j.1440-1827.1995.tb03456.x|issn=1320-5463|pmid=7550996}}</ref> |
| |- | | |- |
− | |Positive (subset)||P53 <ref>{{Cite journal|last=Peraud|first=A.|last2=Watanabe|first2=K.|last3=Plate|first3=K. H.|last4=Yonekawa|first4=Y.|last5=Kleihues|first5=P.|last6=Ohgaki|first6=H.|date=1997|title=p53 mutations versus EGF receptor expression in giant cell glioblastomas|url=https://www.ncbi.nlm.nih.gov/pubmed/9370234|journal=Journal of Neuropathology and Experimental Neurology|volume=56|issue=11|pages=1236–1241|doi=10.1097/00005072-199711000-00008|issn=0022-3069|pmid=9370234}}</ref> <ref name=":3" /> | + | |Positive (Majority)||P53 <ref>{{Cite journal|last=Peraud|first=A.|last2=Watanabe|first2=K.|last3=Plate|first3=K. H.|last4=Yonekawa|first4=Y.|last5=Kleihues|first5=P.|last6=Ohgaki|first6=H.|date=1997|title=p53 mutations versus EGF receptor expression in giant cell glioblastomas|url=https://www.ncbi.nlm.nih.gov/pubmed/9370234|journal=Journal of Neuropathology and Experimental Neurology|volume=56|issue=11|pages=1236–1241|doi=10.1097/00005072-199711000-00008|issn=0022-3069|pmid=9370234}}</ref> <ref name=":3" /> |
| |- | | |- |
− | |Negative (universal)||neuN <ref>{{Cite journal|last=Martinez-Diaz|first=Hilda|last2=Kleinschmidt-DeMasters|first2=B. K.|last3=Powell|first3=Suzanne Z.|last4=Yachnis|first4=Anthony T.|date=2003|title=Giant cell glioblastoma and pleomorphic xanthoastrocytoma show different immunohistochemical profiles for neuronal antigens and p53 but share reactivity for class III beta-tubulin|url=https://www.ncbi.nlm.nih.gov/pubmed/12946225|journal=Archives of Pathology & Laboratory Medicine|volume=127|issue=9|pages=1187–1191|doi=10.1043/1543-2165(2003)1272.0.CO;2|issn=1543-2165|pmid=12946225}}</ref> | + | |Negative (nearly universal)||Neuronal Antigens <ref>{{Cite journal|last=Martinez-Diaz|first=Hilda|last2=Kleinschmidt-DeMasters|first2=B. K.|last3=Powell|first3=Suzanne Z.|last4=Yachnis|first4=Anthony T.|date=2003|title=Giant cell glioblastoma and pleomorphic xanthoastrocytoma show different immunohistochemical profiles for neuronal antigens and p53 but share reactivity for class III beta-tubulin|url=https://www.ncbi.nlm.nih.gov/pubmed/12946225|journal=Archives of Pathology & Laboratory Medicine|volume=127|issue=9|pages=1187–1191|doi=10.1043/1543-2165(2003)1272.0.CO;2|issn=1543-2165|pmid=12946225}}</ref> |
| |} | | |} |
| | | |
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| ==Genomic Gain/Loss/LOH== | | ==Genomic Gain/Loss/LOH== |
| | | |
− | Put your text here and/or fill in the table
| + | * Near haploidization may be a primary oncogenic event underlying a subset of GCG's <ref>{{Cite journal|last=Bigner|first=S. H.|last2=Mark|first2=J.|last3=Schold|first3=S. C.|last4=Eng|first4=L. F.|last5=Bigner|first5=D. D.|date=1985|title=A serially transplantable human giant cell glioblastoma that maintains a near-haploid stem line|url=https://www.ncbi.nlm.nih.gov/pubmed/3840409|journal=Cancer Genetics and Cytogenetics|volume=18|issue=2|pages=141–153|doi=10.1016/0165-4608(85)90064-0|issn=0165-4608|pmid=3840409}}</ref> |
| + | ** Recurrent loss of chromosomes 1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 14, 15, 17, 18, 19, 22 |
| + | ** Typically have gains or retain heterozygosity of chromosome 7 |
| + | * Similar genomic findings have been described in other oncocytic tumors <ref name=":4">{{Cite journal|last=Ganly|first=Ian|last2=Makarov|first2=Vladimir|last3=Deraje|first3=Shyamprasad|last4=Dong|first4=YiYu|last5=Reznik|first5=Ed|last6=Seshan|first6=Venkatraman|last7=Nanjangud|first7=Gouri|last8=Eng|first8=Stephanie|last9=Bose|first9=Promita|date=2018|title=Integrated Genomic Analysis of Hürthle Cell Cancer Reveals Oncogenic Drivers, Recurrent Mitochondrial Mutations, and Unique Chromosomal Landscapes|url=https://www.ncbi.nlm.nih.gov/pubmed/30107176|journal=Cancer Cell|volume=34|issue=2|pages=256–270.e5|doi=10.1016/j.ccell.2018.07.002|issn=1878-3686|pmc=6247912|pmid=30107176}}</ref> <ref>{{Cite journal|last=Corver|first=Willem E.|last2=Ruano|first2=Dina|last3=Weijers|first3=Karin|last4=den Hartog|first4=Wietske C. E.|last5=van Nieuwenhuizen|first5=Merlijn P.|last6=de Miranda|first6=Noel|last7=van Eijk|first7=Ronald|last8=Middeldorp|first8=Anneke|last9=Jordanova|first9=Ekaterina S.|date=2012|title=Genome haploidisation with chromosome 7 retention in oncocytic follicular thyroid carcinoma|url=https://www.ncbi.nlm.nih.gov/pubmed/22675538|journal=PloS One|volume=7|issue=6|pages=e38287|doi=10.1371/journal.pone.0038287|issn=1932-6203|pmc=3365880|pmid=22675538}}</ref> <ref>{{Cite journal|last=Corver|first=Willem E.|last2=van Wezel|first2=Tom|last3=Molenaar|first3=Kees|last4=Schrumpf|first4=Melanie|last5=van den Akker|first5=Brendy|last6=van Eijk|first6=Ronald|last7=Ruano Neto|first7=Dina|last8=Oosting|first8=Jan|last9=Morreau|first9=Hans|date=2014|title=Near-haploidization significantly associates with oncocytic adrenocortical, thyroid, and parathyroid tumors but not with mitochondrial DNA mutations|url=https://www.ncbi.nlm.nih.gov/pubmed/24909752|journal=Genes, Chromosomes & Cancer|volume=53|issue=10|pages=833–844|doi=10.1002/gcc.22194|issn=1098-2264|pmid=24909752}}</ref> <ref>{{Cite journal|last=Gopal|first=Raj K.|last2=Kübler|first2=Kirsten|last3=Calvo|first3=Sarah E.|last4=Polak|first4=Paz|last5=Livitz|first5=Dimitri|last6=Rosebrock|first6=Daniel|last7=Sadow|first7=Peter M.|last8=Campbell|first8=Braidie|last9=Donovan|first9=Samuel E.|date=2018|title=Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma|url=https://www.ncbi.nlm.nih.gov/pubmed/30107175|journal=Cancer Cell|volume=34|issue=2|pages=242–255.e5|doi=10.1016/j.ccell.2018.06.013|issn=1878-3686|pmc=6121811|pmid=30107175}}</ref> |
| + | * Oncogenenesis in such cases may be related to widespread loss of tumor suppressors in a catastrophic reduplication event early in tumorigenesis <ref name=":4" /> |
| | | |
− | {| class="wikitable sortable"
| |
− | |-
| |
− | !Chromosome Number!!Gain/Loss/Amp/LOH!!Region
| |
− | |-
| |
− | |EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
| |
− | |-
| |
− | |EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
| |
− | |}
| |
− |
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| ==Gene Mutations (SNV/INDEL)== | | ==Gene Mutations (SNV/INDEL)== |
| | | |
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| !Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | | !Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) |
| |- | | |- |
− | |EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20% | + | |TP53|| ||Tumor Suppressor|| ||75-90% <ref>{{Cite journal|last=Martinez|first=Ramon|last2=Roggendorf|first2=Wolfgang|last3=Baretton|first3=Gustavo|last4=Klein|first4=Rüdiger|last5=Toedt|first5=Grisha|last6=Lichter|first6=Peter|last7=Schackert|first7=Gabriele|last8=Joos|first8=Stefan|date=2007|title=Cytogenetic and molecular genetic analyses of giant cell glioblastoma multiforme reveal distinct profiles in giant cell and non-giant cell subpopulations|url=https://www.ncbi.nlm.nih.gov/pubmed/17498554|journal=Cancer Genetics and Cytogenetics|volume=175|issue=1|pages=26–34|doi=10.1016/j.cancergencyto.2007.01.006|issn=0165-4608|pmid=17498554}}</ref> |
| + | |- |
| + | |PTEN |
| + | | |
| + | |Tumor Suppressor |
| + | | |
| + | |33% <ref name=":5">{{Cite journal|last=Oh|first=Ji Eun|last2=Ohta|first2=Takashi|last3=Nonoguchi|first3=Naosuke|last4=Satomi|first4=Kaishi|last5=Capper|first5=David|last6=Pierscianek|first6=Daniela|last7=Sure|first7=Ulrich|last8=Vital|first8=Anne|last9=Paulus|first9=Werner|date=2016|title=Genetic Alterations in Gliosarcoma and Giant Cell Glioblastoma|url=https://www.ncbi.nlm.nih.gov/pubmed/26443480|journal=Brain Pathology (Zurich, Switzerland)|volume=26|issue=4|pages=517–522|doi=10.1111/bpa.12328|issn=1750-3639|pmid=26443480}}</ref> |
| + | |- |
| + | |ATRX |
| + | | |
| + | |Tumor Suppressor |
| + | |Expression loss |
| + | |19% <ref name=":5" /> |
| + | |- |
| + | |TERT |
| + | | |
| + | |Telomerase |
| + | | |
| + | |25% <ref name=":5" /> |
| + | |- |
| + | |EGFR |
| + | | |
| + | |Oncogene |
| + | |Amplification |
| + | |6% <ref name=":5" /> |
| |} | | |} |
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| Put your links here | | Put your links here |
| + | |
| + | ==Notes== |
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| ==References== | | ==References== |
− |
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− | ===EXAMPLE Book===
| |
− |
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− | #Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
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− |
| |
− | ===EXAMPLE Journal Article===
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− |
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− | #Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
| |
− |
| |
− | ==Notes==
| |
| <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | | <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. |
| + | <references /> |