Compendium of Cancer Genome Aberrations

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Giant cell glioblastoma (view source)

Revision as of 09:50, 13 April 2020

4,203 bytes added ,  09:50, 13 April 2020
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Jay Alden, DO
    
==Cancer Category/Type==
 
==Cancer Category/Type==
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* Diffuse astrocytic and olidodendroglial tumors
    
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
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Glioblastoma, IDH-wildtype (IDH-wt)
    
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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* 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>
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* Large, multinucleate giant cells with occasional abundant reticuln network <ref name=":0" />
    
==Synonyms / Terminology==
 
==Synonyms / Terminology==
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==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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* 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>
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* 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>
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* Mean age 51 years <ref name=":2" />
    
==Clinical Features==
 
==Clinical Features==
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* No evidence of a precursor lesion <ref name=":0" />
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* Presenting symptoms similar to IDH-wt glioblastoma
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* 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==
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* Localization similar to IDH-wt glioblastoma <ref name=":2" /><ref name=":1" />
    
==Morphologic Features==
 
==Morphologic Features==
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* 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>
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* Cells may contain numerous nuclei <ref name=":0" />
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* Palisading and ischemic necrosis <ref name=":0" />
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* Pseudo-rosette like perivascular tumor cell concentration <ref name=":0" />
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[[File:GCG sample image.png|thumb|Hematoxylin and Eosin stained section of giant cell glioblastoma showing bizarre multinucleate cells]]
    
==Immunophenotype==
 
==Immunophenotype==
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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! Finding   !! Marker
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!Finding!!Marker
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|Positive (universal) || EXAMPLE CD1
   
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|Positive (subset) || EXAMPLE CD2
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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>
 
|-
 
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|Negative (universal) || EXAMPLE CD3
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|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" />
 
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|Negative (subset) || EXAMPLE CD4
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|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>
 
|}
 
|}
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
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! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
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!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 
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|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
 
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|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
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|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
 
|}
 
|}
 
 
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
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! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
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!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
 
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|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
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|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
 
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|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
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|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
 
|}
 
|}
 
 
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
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! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
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!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
 
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| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
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|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
 
|}
 
|}
 
 
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
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! Type !! Gene/Region/Other
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!Type!!Gene/Region/Other
 
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| Concomitant Mutations || EXAMPLE IDH1 R123H
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|Concomitant Mutations||EXAMPLE IDH1 R123H
 
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| Secondary Mutations || EXAMPLE Trisomy 7
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|Secondary Mutations||EXAMPLE Trisomy 7
 
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|Mutually Exclusive || EXAMPLE EGFR Amplification
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|Mutually Exclusive||EXAMPLE EGFR Amplification
 
|}
 
|}
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==References==
 
==References==
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=== EXAMPLE Book ===
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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.
 
#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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===EXAMPLE Journal Article===
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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.
 
#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.
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== Notes ==
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==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.
Jay.Alden
13

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