Compendium of Cancer Genome Aberrations

HAEM5:High grade B-cell lymphoma with 11q aberrations: Difference between revisions

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{{DISPLAYTITLE:High grade B-cell lymphoma with 11q aberrations}}
{{DISPLAYTITLE:High grade B-cell lymphoma with 11q aberrations}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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Daynna Wolff, PhD, Medical University of South Carolina
Daynna Wolff, PhD, Medical University of South Carolina
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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|}
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==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
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|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|Large B-cell lymphoma with 11q aberration
|-
|-
|Not Recommended
|Not Recommended
|
|Burkitt-like lymphoma with 11q aberration; MYC-negative Burkitt lymphoma (obsolete)
|}
|}


==Gene Rearrangements==
==Gene Rearrangements==
BLL-11q has no known gene fusions at this time.
{| class="wikitable sortable"
|-
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
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|}


BLL-11q has no known gene fusions at this time.
<br />


==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>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!Notes
|-
|<span class="blue-text">EXAMPLE:</span>
7
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span>
chr7
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
chr8
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
17
|<span class="blue-text">EXAMPLE:</span> Amp
|<span class="blue-text">EXAMPLE:</span>
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
''ERBB2''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|-
|-
| || || ||
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|}<br />
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==Individual Region Genomic Gain/Loss/LOH==
|
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|}


The table below represents the smallest reported minimal lost region and smallest reported minimal gain region. Other larger MGR and MLR have been reported.<ref name=":2">{{Cite journal|last=Salaverria|first=Itziar|last2=Martin-Guerrero|first2=Idoia|last3=Wagener|first3=Rabea|last4=Kreuz|first4=Markus|last5=Kohler|first5=Christian W.|last6=Richter|first6=Julia|last7=Pienkowska-Grela|first7=Barbara|last8=Adam|first8=Patrick|last9=Burkhardt|first9=Birgit|date=2014-02-20|title=A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma|url=https://ashpublications.org/blood/article/123/8/1187/32820/A-recurrent-11q-aberration-pattern-characterizes-a|journal=Blood|language=en|volume=123|issue=8|pages=1187–1198|doi=10.1182/blood-2013-06-507996|issn=0006-4971|pmc=PMC3931189|pmid=24398325}}</ref> <ref>{{Cite journal|last=Ferreiro|first=J. F.|last2=Morscio|first2=J.|last3=Dierickx|first3=D.|last4=Marcelis|first4=L.|last5=Verhoef|first5=G.|last6=Vandenberghe|first6=P.|last7=Tousseyn|first7=T.|last8=Wlodarska|first8=I.|date=2015-07-01|title=Post-transplant molecularly defined Burkitt lymphomas are frequently MYC-negative and characterized by the 11q-gain/loss pattern|url=http://www.haematologica.org/cgi/doi/10.3324/haematol.2015.124305|journal=Haematologica|language=en|volume=100|issue=7|pages=e275–e279|doi=10.3324/haematol.2015.124305|issn=0390-6078|pmc=PMC4486241|pmid=25795716}}</ref>
The table below represents the smallest reported minimal lost region and smallest reported minimal gain region. Other larger MGR and MLR have been reported.<ref name=":2">{{Cite journal|last=Salaverria|first=Itziar|last2=Martin-Guerrero|first2=Idoia|last3=Wagener|first3=Rabea|last4=Kreuz|first4=Markus|last5=Kohler|first5=Christian W.|last6=Richter|first6=Julia|last7=Pienkowska-Grela|first7=Barbara|last8=Adam|first8=Patrick|last9=Burkhardt|first9=Birgit|date=2014-02-20|title=A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma|url=https://ashpublications.org/blood/article/123/8/1187/32820/A-recurrent-11q-aberration-pattern-characterizes-a|journal=Blood|language=en|volume=123|issue=8|pages=1187–1198|doi=10.1182/blood-2013-06-507996|issn=0006-4971|pmc=PMC3931189|pmid=24398325}}</ref> <ref>{{Cite journal|last=Ferreiro|first=J. F.|last2=Morscio|first2=J.|last3=Dierickx|first3=D.|last4=Marcelis|first4=L.|last5=Verhoef|first5=G.|last6=Vandenberghe|first6=P.|last7=Tousseyn|first7=T.|last8=Wlodarska|first8=I.|date=2015-07-01|title=Post-transplant molecularly defined Burkitt lymphomas are frequently MYC-negative and characterized by the 11q-gain/loss pattern|url=http://www.haematologica.org/cgi/doi/10.3324/haematol.2015.124305|journal=Haematologica|language=en|volume=100|issue=7|pages=e275–e279|doi=10.3324/haematol.2015.124305|issn=0390-6078|pmc=PMC4486241|pmid=25795716}}</ref>
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|Minimal duplication region contained PAFAH1B2, USP2, and CBL oncogenes.<ref name=":3" />
|Minimal duplication region contained PAFAH1B2, USP2, and CBL oncogenes.<ref name=":3" />
|}
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
{| class="wikitable sortable"
|-
!Chromosomal Pattern
!Molecular Pathogenesis
!Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>
Co-deletion of 1p and 18q
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|<span class="blue-text">EXAMPLE:</span> D, P
|
|
|-
|<span class="blue-text">EXAMPLE:</span>
Microsatellite instability - hypermutated
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
|
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|-
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*Research up until this point has revealed no conservative breakpoints. <ref name=":3" />
*Research up until this point has revealed no conservative breakpoints. <ref name=":3" />
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|Noted to be recurrently concomitantly present with the characteristic proximal duplications and deletions that define BLL, 11q.<ref name=":5" />
|Noted to be recurrently concomitantly present with the characteristic proximal duplications and deletions that define BLL, 11q.<ref name=":5" />
|}Notably, no 1q21 abnormalities were found in myc-negative, 11q positive cases. <ref name=":1">{{Cite journal|last=Horn|first=Heike|last2=Kalmbach|first2=Sabrina|last3=Wagener|first3=Rabea|last4=Staiger|first4=Annette M.|last5=Hüttl|first5=Katrin|last6=Mottok|first6=Anja|last7=Bens|first7=Susanne|last8=Traverse-Glehen|first8=Alexandra|last9=Fontaine|first9=Juliette|date=2021-03|title=A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas|url=https://journals.lww.com/10.1097/PAS.0000000000001613|journal=American Journal of Surgical Pathology|language=en|volume=45|issue=3|pages=356–364|doi=10.1097/PAS.0000000000001613|issn=0147-5185}}</ref><ref name=":6" />
|}Notably, no 1q21 abnormalities were found in myc-negative, 11q positive cases. <ref name=":1">{{Cite journal|last=Horn|first=Heike|last2=Kalmbach|first2=Sabrina|last3=Wagener|first3=Rabea|last4=Staiger|first4=Annette M.|last5=Hüttl|first5=Katrin|last6=Mottok|first6=Anja|last7=Bens|first7=Susanne|last8=Traverse-Glehen|first8=Alexandra|last9=Fontaine|first9=Juliette|date=2021-03|title=A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas|url=https://journals.lww.com/10.1097/PAS.0000000000001613|journal=American Journal of Surgical Pathology|language=en|volume=45|issue=3|pages=356–364|doi=10.1097/PAS.0000000000001613|issn=0147-5185}}</ref><ref name=":6" />
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
|-
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
<br />
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
|
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|-
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


*Studies suggest an overall unique mutational profile, with little to no overlap with commonly mutated genes in DLCBL and BL, respectively. Notably, recurrent mutations in BL such as ID3, TCF3, and CCND3 were not present.  <ref name=":6" /> <ref name=":13">{{Cite journal|last=Wagener|first=Rabea|last2=Seufert|first2=Julian|last3=Raimondi|first3=Francesco|last4=Bens|first4=Susanne|last5=Kleinheinz|first5=Kortine|last6=Nagel|first6=Inga|last7=Altmüller|first7=Janine|last8=Thiele|first8=Holger|last9=Hübschmann|first9=Daniel|date=2019-02-28|title=The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma|url=https://ashpublications.org/blood/article/133/9/962/260647/The-mutational-landscape-of-Burkittlike-lymphoma|journal=Blood|language=en|volume=133|issue=9|pages=962–966|doi=10.1182/blood-2018-07-864025|issn=0006-4971|pmc=PMC6396176|pmid=30567752}}</ref>
*Studies suggest an overall unique mutational profile, with little to no overlap with commonly mutated genes in DLCBL and BL, respectively. Notably, recurrent mutations in BL such as ID3, TCF3, and CCND3 were not present.  <ref name=":6" /> <ref name=":13">{{Cite journal|last=Wagener|first=Rabea|last2=Seufert|first2=Julian|last3=Raimondi|first3=Francesco|last4=Bens|first4=Susanne|last5=Kleinheinz|first5=Kortine|last6=Nagel|first6=Inga|last7=Altmüller|first7=Janine|last8=Thiele|first8=Holger|last9=Hübschmann|first9=Daniel|date=2019-02-28|title=The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma|url=https://ashpublications.org/blood/article/133/9/962/260647/The-mutational-landscape-of-Burkittlike-lymphoma|journal=Blood|language=en|volume=133|issue=9|pages=962–966|doi=10.1182/blood-2018-07-864025|issn=0006-4971|pmc=PMC6396176|pmid=30567752}}</ref>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC /  TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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