HAEM5:Classic Hodgkin lymphoma: Difference between revisions
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==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | ||
Recurrent chromosomal imbalances are characteristic of CHL and contribute to its pathogenesis. Frequent gains include 2p (''REL''), 9p24.1 (''JAK2'', ''CD274/PDL1'', ''PDCD1LG2/PDL2''), and 17q21 (''MAP3K14''), while recurrent losses include 6q23–q24 (''TNFAIP3''). These alterations support activation of NF-κB and JAK/STAT pathways, as well as immune evasion. | |||
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|REL amplification promotes NF-κB signaling activation <ref | |REL amplification promotes NF-κB signaling activation <ref>{{Cite journal|last=Joos|first=Stefan|last2=Menz|first2=Christiane K.|last3=Wrobel|first3=Gunnar|last4=Siebert|first4=Reiner|last5=Gesk|first5=Stefan|last6=Ohl|first6=Sibylle|last7=Mechtersheimer|first7=Gunhild|last8=Trümper|first8=Lorenz|last9=Möller|first9=Peter|date=2002-02-15|title=Classical Hodgkin lymphoma is characterized by recurrent copy number gains of the short arm of chromosome 2|url=https://pubmed.ncbi.nlm.nih.gov/11830490|journal=Blood|volume=99|issue=4|pages=1381–1387|doi=10.1182/blood.v99.4.1381|issn=0006-4971|pmid=11830490}}</ref><ref>{{Cite journal|last=Martín-Subero|first=José I.|last2=Gesk|first2=Stefan|last3=Harder|first3=Lana|last4=Sonoki|first4=Takashi|last5=Tucker|first5=Philip W.|last6=Schlegelberger|first6=Brigitte|last7=Grote|first7=Werner|last8=Novo|first8=Francisco J.|last9=Calasanz|first9=María J.|date=2002-02-15|title=Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/11830502|journal=Blood|volume=99|issue=4|pages=1474–1477|doi=10.1182/blood.v99.4.1474|issn=0006-4971|pmid=11830502}}</ref><ref name=":2">{{Cite journal|last=Steidl|first=Christian|last2=Telenius|first2=Adele|last3=Shah|first3=Sohrab P.|last4=Farinha|first4=Pedro|last5=Barclay|first5=Lorena|last6=Boyle|first6=Merrill|last7=Connors|first7=Joseph M.|last8=Horsman|first8=Douglas E.|last9=Gascoyne|first9=Randy D.|date=2010-07-22|title=Genome-wide copy number analysis of Hodgkin Reed-Sternberg cells identifies recurrent imbalances with correlations to treatment outcome|url=https://pubmed.ncbi.nlm.nih.gov/20339089|journal=Blood|volume=116|issue=3|pages=418–427|doi=10.1182/blood-2009-12-257345|issn=1528-0020|pmid=20339089}}</ref> | ||
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|9p | |9p | ||
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|P | |P | ||
|No | |No | ||
|MAP3K14 (NIK) gain activates alternative NF-κB signaling <ref name=": | |MAP3K14 (NIK) gain activates alternative NF-κB signaling <ref name=":2" /> | ||
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|6q | |6q | ||
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|P | |P | ||
|No | |No | ||
|Loss of TNFAIP3 (A20) disrupts NF-κB regulation <ref name=":0" /> | |Loss of TNFAIP3 (A20) disrupts NF-κB regulation <ref name=":0">{{Cite journal|last=Schmitz|first=Roland|last2=Hansmann|first2=Martin-Leo|last3=Bohle|first3=Verena|last4=Martin-Subero|first4=Jose Ignacio|last5=Hartmann|first5=Sylvia|last6=Mechtersheimer|first6=Gunhild|last7=Klapper|first7=Wolfram|last8=Vater|first8=Inga|last9=Giefing|first9=Maciej|date=2009-05-11|title=TNFAIP3 (A20) is a tumor suppressor gene in Hodgkin lymphoma and primary mediastinal B cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/19380639|journal=The Journal of Experimental Medicine|volume=206|issue=5|pages=981–989|doi=10.1084/jem.20090528|issn=1540-9538|pmc=2715030|pmid=19380639}}</ref> | ||
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