Compendium of Cancer Genome Aberrations

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

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<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Burkitt-Like Lymphoma with 11q Aberration]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Burkitt-Like Lymphoma with 11q Aberration]].
}}</blockquote>
}}</blockquote>


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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==


Line 39: Line 36:
|}
|}


==Definition / Description of Disease==
==Related Terminology==
 
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
 
==Synonyms / Terminology==
 
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
 
==Epidemiology / Prevalence==
 
*Males>females, with estimated ratio of 2.75:1 in one cohort<ref name=":7">{{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>
*Seems to have no racial predilection
*Increased incidence in post-transplant/immunodeficient individuals<ref name=":8">{{Cite journal|last=Wang|first=Jing|last2=Ma|first2=Li|last3=Guo|first3=Jianghong|last4=Xi|first4=Yanfeng|last5=Xu|first5=Enwei|date=2021-03-16|title=Burkitt-like lymphoma with 11q aberration in a patient with AIDS and a patient without AIDS: Two cases reports and literature review|url=https://www.degruyter.com/document/doi/10.1515/med-2021-0246/html|journal=Open Medicine|language=en|volume=16|issue=1|pages=428–434|doi=10.1515/med-2021-0246|issn=2391-5463|pmc=PMC7967281|pmid=33763601}}</ref>, but never EBV-associated<ref name=":7" /> <ref name=":9">{{Cite journal|last=Kim|first=Jee Ah|last2=M.D|last3=Kim|first3=Hyun-Young|last4=M.D|last5=Kim|first5=Seok Jin|last6=M.D|last7=Kim|first7=Hee-Jin|last8=M.D|last9=Kim|first9=and Sun-Hee|date=2021-11-01|title=A Case of Burkitt-Like Lymphoma With 11q Aberration With HIV Infection in East Asia and Literature Review|url=https://www.annlabmed.org/journal/view.html?doi=10.3343/alm.2021.41.6.593|journal=Annals of Laboratory Medicine|language=en|volume=41|issue=6|pages=593–597|doi=10.3343/alm.2021.41.6.593|pmc=PMC8203433|pmid=34108287}}</ref>
*Immunodeficiency can be congenital, HIV-associated, or iatrogenic in setting of transplant<ref name=":9" /> <ref>{{Cite journal|last=Wang|first=Jing|last2=Ma|first2=Li|last3=Guo|first3=Jianghong|last4=Xi|first4=Yanfeng|last5=Xu|first5=Enwei|date=2021-01-01|title=Burkitt-like lymphoma with 11q aberration in a patient with AIDS and a patient without AIDS: Two cases reports and literature review|url=https://www.degruyter.com/document/doi/10.1515/med-2021-0246/html|journal=Open Medicine|language=en|volume=16|issue=1|pages=428–434|doi=10.1515/med-2021-0246|issn=2391-5463|pmc=PMC7967281|pmid=33763601}}</ref>
*Age range: 4<ref name=":7" />-82<ref>{{Cite journal|last=Moshref Razavi|first=Habib|last2=Hrynchak|first2=Monica|date=2019-01-24|title=Unusual presentation of Burkitt-like lymphoma with 11q aberration in an elderly patient|url=https://ashpublications.org/blood/article/133/4/381/272765/Unusual-presentation-of-Burkittlike-lymphoma-with|journal=Blood|language=en|volume=133|issue=4|pages=381–381|doi=10.1182/blood-2018-08-864728|issn=0006-4971}}</ref>
**median age: 13.9 in a study limited to pediatric patient cohort <ref name=":4">{{Cite journal|last=Au‐Yeung|first=Rex K. H.|last2=Arias Padilla|first2=Laura|last3=Zimmermann|first3=Martin|last4=Oschlies|first4=Ilske|last5=Siebert|first5=Reiner|last6=Woessmann|first6=Wilhelm|last7=Burkhardt|first7=Birgit|last8=Klapper|first8=Wolfram|date=2020-09|title=Experience with provisional WHO‐entities large B‐cell lymphoma with IRF4 ‐rearrangement and Burkitt‐like lymphoma with 11q aberration in paediatric patients of the NHL‐BFM group|url=https://onlinelibrary.wiley.com/doi/10.1111/bjh.16578|journal=British Journal of Haematology|language=en|volume=190|issue=5|pages=753–763|doi=10.1111/bjh.16578|issn=0007-1048}}</ref>, 49.5<ref name=":1" />
**mean age: 15<ref name=":6">{{Cite journal|last=Gonzalez-Farre|first=Blanca|last2=Ramis-Zaldivar|first2=Joan Enric|last3=Salmeron-Villalobos|first3=Julia|last4=Balagué|first4=Olga|last5=Celis|first5=Verónica|last6=Verdu-Amoros|first6=Jaime|last7=Nadeu|first7=Ferran|last8=Sábado|first8=Constantino|last9=Ferrández|first9=Antonio|date=2019-09|title=Burkitt-like lymphoma with 11q aberration: a germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma|url=http://www.haematologica.org/lookup/doi/10.3324/haematol.2018.207928|journal=Haematologica|language=en|volume=104|issue=9|pages=1822–1829|doi=10.3324/haematol.2018.207928|issn=0390-6078|pmc=PMC6717587|pmid=30733272}}</ref>,15.5<ref name=":7" />


==Clinical Features==
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|Small, localized lymphadenopathy (most common) <ref name=":6" />bulky tumors (>7-20 cm) possible, mostly abdominal <ref name=":0" />
|Acceptable
1/3 of pediatric patients B-symptoms (weight loss, fever, night sweats) <ref name=":4" />
|Large B-cell lymphoma with 11q aberration
|-
|-
|'''Laboratory Findings'''
|Not Recommended
|LDH elevation possible, generally below 500 <ref name=":0" /> <ref name=":4" />
|Burkitt-like lymphoma with 11q aberration; MYC-negative Burkitt lymphoma (obsolete)
|}
|}


==Sites of Involvement==
==Gene Rearrangements==
 
BLL-11q has no known gene fusions at this time.
*Nodal involvement <ref name=":6" />
**cervical and abdominal lymphadenopathy predominant, with axillary, inguinal, tonsillar, and submandibular less commonly reported <ref name=":9" /> <ref name=":7" /> <ref name=":8" /> <ref name=":6" /> <ref name=":0" />
**less common sites such as testes, parotid reported in association with immunodeficient patients <ref name=":9" />
*Rare bone marrow involvement<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>
*CNS involvement is rare <ref name=":9" /> <ref name=":7" /> <ref name=":8" /> <ref name=":6" /> <ref name=":0" />
 
==Morphologic Features==
 
*Medium to large sheets of B-cells frequently with starry-sky background
*Diverse, having been morphologically classified as the following: <ref name=":4" /> <ref name=":6" />
**BLL, including atypical
**HGBCL, NOS
**DLBCL
 
*Course and increased number of apoptotic bodies (5-9) per macrophage<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>
*Cytologic features often more blastoid <ref name=":6" />
 
==Immunophenotype==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!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
|-
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|
|-
|
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|
|-
|
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|
|-
|
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|
|
|}
|}


<br />


<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
==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"
|-
|-
!Flow Findings!!Marker
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|Positive (universal)||CD10, CD20, CD19, CD22, BCL6 <ref name=":0" />
|<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).
|-
|-
|Positive (subset)||CD16/CD56 (present in 60%), CD8 (present in 40%) <ref name=":0" />
|<span class="blue-text">EXAMPLE:</span>
|-
8
|Negative (universal)||CD5, CD11C, CD23, CD200, BCL2 <ref name=":0" />
|<span class="blue-text">EXAMPLE:</span> Gain
|-
|<span class="blue-text">EXAMPLE:</span>
|Negative (subset)||CD38 bright (absent 90%) <ref name=":0" />
chr8
|}
|<span class="blue-text">EXAMPLE:</span>
Statistically significant differences in flow cytometry of BLL11q as compared to myc-positive Burkitt Lymphoma:<ref name=":0">{{Cite journal|last=Rymkiewicz|first=Grzegorz|last2=Grygalewicz|first2=Beata|last3=Chechlinska|first3=Magdalena|last4=Blachnio|first4=Katarzyna|last5=Bystydzienski|first5=Zbigniew|last6=Romejko-Jarosinska|first6=Joanna|last7=Woroniecka|first7=Renata|last8=Zajdel|first8=Michalina|last9=Domanska-Czyz|first9=Katarzyna|date=2018-05|title=A comprehensive flow-cytometry-based immunophenotypic characterization of Burkitt-like lymphoma with 11q aberration|url=http://www.nature.com/articles/modpathol2017186|journal=Modern Pathology|language=en|volume=31|issue=5|pages=732–743|doi=10.1038/modpathol.2017.186|issn=0893-3952}}</ref>
Unknown
 
|<span class="blue-text">EXAMPLE:</span> D, P
*less frequent CD45 depression <ref name=":0" />
*less frequent CD38 bright expression (10% as opposed to 91% in myc-postive BL) <ref name=":0" />
*CD16/CD56 (NK differentiation) positivity (60% of time as opposed to 0% in myc-positive BL) <ref name=":0" />
*CD 8 expression (40% as opposed to 4% in myc-positive BL) <ref name=":0" />
 
Immunohistochemistry:  
 
*GCB phenotype <ref name=":4" /> <ref name=":1" /><ref name=":6" />
 
*Ki67 usually >90% <ref name=":4" /> <ref name=":0" /><ref name=":6" /> <ref name=":7" /> <ref name=":1" />
*LMO2 expression (46% to 70% as compared to 0% in myc-positive BL)<ref name=":6" /><ref name=":0" />
*MYC may be positive if using a 40% MYC<ref name=":6" />
 
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==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)*
|
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|-
|WHO Desirable Criteria (Genetics)*
|<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.
|-
|-
|Other Classification
|
|
|}
<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==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
|+
|Acceptable
|
|
|-
|Not Recommended
|
|
|}
==Gene Rearrangements==
BLL-11q has no known gene fusions at this time.
{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
| || || ||
|
|
|
|
|
|
|
|
|}<br />
|}
==Individual Region Genomic Gain/Loss/LOH==


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" /> <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>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 219: Line 161:
|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
|
|
|-
|
|
|
|
|
|
|}


*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" />
Line 249: Line 226:
|unknown
|unknown
|-
|-
|5q21.3q32 gain and 6q12.1-q21 loss <ref name=":5">{{Cite journal|last=Asadbeigi|first=Sepideh N.|last2=Deel|first2=Chelsey D.|date=2020-09-08|title=Burkitt-Like Lymphoma with 11q Aberration: A Case Report and Review of a Rare Entity|url=https://www.hindawi.com/journals/crihem/2020/8896322/|journal=Case Reports in Hematology|language=en|volume=2020|pages=e8896322|doi=10.1155/2020/8896322|issn=2090-6560|pmc=PMC7495152|pmid=32963851}}</ref><ref name=":6" />
|5q21.3q32 gain and 6q12.1-q21 loss <ref name=":5">{{Cite journal|last=Asadbeigi|first=Sepideh N.|last2=Deel|first2=Chelsey D.|date=2020-09-08|title=Burkitt-Like Lymphoma with 11q Aberration: A Case Report and Review of a Rare Entity|url=https://www.hindawi.com/journals/crihem/2020/8896322/|journal=Case Reports in Hematology|language=en|volume=2020|pages=e8896322|doi=10.1155/2020/8896322|issn=2090-6560|pmc=PMC7495152|pmid=32963851}}</ref><ref name=":6">{{Cite journal|last=Gonzalez-Farre|first=Blanca|last2=Ramis-Zaldivar|first2=Joan Enric|last3=Salmeron-Villalobos|first3=Julia|last4=Balagué|first4=Olga|last5=Celis|first5=Verónica|last6=Verdu-Amoros|first6=Jaime|last7=Nadeu|first7=Ferran|last8=Sábado|first8=Constantino|last9=Ferrández|first9=Antonio|date=2019-09|title=Burkitt-like lymphoma with 11q aberration: a germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma|url=http://www.haematologica.org/lookup/doi/10.3324/haematol.2018.207928|journal=Haematologica|language=en|volume=104|issue=9|pages=1822–1829|doi=10.3324/haematol.2018.207928|issn=0390-6078|pmc=PMC6717587|pmid=30733272}}</ref>
|unknown
|unknown
|unknown
|unknown
|unknown
|unknown
|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" /><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
|
|
|-
|
|
|
|
|
|
|
|}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>
Line 269: Line 291:
{| 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)
Line 346: Line 368:
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


*Conventional cytogenetics (karyotyping) + FISH using MYC break-apart probe to rule out MYC translocation <ref name=":5" /> <ref name=":9" />
*Conventional cytogenetics (karyotyping) + FISH using MYC break-apart probe to rule out MYC translocation <ref name=":5" /> <ref name=":9">{{Cite journal|last=Kim|first=Jee Ah|last2=M.D|last3=Kim|first3=Hyun-Young|last4=M.D|last5=Kim|first5=Seok Jin|last6=M.D|last7=Kim|first7=Hee-Jin|last8=M.D|last9=Kim|first9=and Sun-Hee|date=2021-11-01|title=A Case of Burkitt-Like Lymphoma With 11q Aberration With HIV Infection in East Asia and Literature Review|url=https://www.annlabmed.org/journal/view.html?doi=10.3343/alm.2021.41.6.593|journal=Annals of Laboratory Medicine|language=en|volume=41|issue=6|pages=593–597|doi=10.3343/alm.2021.41.6.593|pmc=PMC8203433|pmid=34108287}}</ref>
*Chromosomal microarray analysis <ref name=":6" /> <ref name=":9" />
*Chromosomal microarray analysis <ref name=":6" /> <ref name=":9" />


Line 403: Line 425:


*Look for 11q aberration if Myc negative lymphoma with morphology reminiscent of BL, DLBCL, or HGBCL <ref name=":6" />
*Look for 11q aberration if Myc negative lymphoma with morphology reminiscent of BL, DLBCL, or HGBCL <ref name=":6" />
*Attend to associated chromosomal and mutational abnormalities of other aggressive B-cell lymphomas, ensuring their absence before diagnosis of BLL-11q, since BLL-11q may represent <ref name=":3" /> <ref name=":8" /> <ref>{{Cite journal|last=Grygalewicz|first=Beata|last2=Woroniecka|first2=Renata|last3=Rymkiewicz|first3=Grzegorz|last4=Rygier|first4=Jolanta|last5=Malawska|first5=Natalia|last6=Blachnio|first6=Katarzyna|last7=Bystydzienski|first7=Zbigniew|last8=Borysiuk|first8=Anita|last9=Nowakowska|first9=Beata|date=2020-07-01|title=Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification|url=https://www.cancergeneticsjournal.org/article/S2210-7762(20)30236-2/abstract|journal=Cancer Genetics|language=English|volume=245|pages=1–5|doi=10.1016/j.cancergen.2020.05.001|issn=2210-7762|pmid=32531723}}</ref>
*Attend to associated chromosomal and mutational abnormalities of other aggressive B-cell lymphomas, ensuring their absence before diagnosis of BLL-11q, since BLL-11q may represent <ref name=":3" /> <ref name=":8">{{Cite journal|last=Wang|first=Jing|last2=Ma|first2=Li|last3=Guo|first3=Jianghong|last4=Xi|first4=Yanfeng|last5=Xu|first5=Enwei|date=2021-03-16|title=Burkitt-like lymphoma with 11q aberration in a patient with AIDS and a patient without AIDS: Two cases reports and literature review|url=https://www.degruyter.com/document/doi/10.1515/med-2021-0246/html|journal=Open Medicine|language=en|volume=16|issue=1|pages=428–434|doi=10.1515/med-2021-0246|issn=2391-5463|pmc=PMC7967281|pmid=33763601}}</ref> <ref>{{Cite journal|last=Grygalewicz|first=Beata|last2=Woroniecka|first2=Renata|last3=Rymkiewicz|first3=Grzegorz|last4=Rygier|first4=Jolanta|last5=Malawska|first5=Natalia|last6=Blachnio|first6=Katarzyna|last7=Bystydzienski|first7=Zbigniew|last8=Borysiuk|first8=Anita|last9=Nowakowska|first9=Beata|date=2020-07-01|title=Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification|url=https://www.cancergeneticsjournal.org/article/S2210-7762(20)30236-2/abstract|journal=Cancer Genetics|language=English|volume=245|pages=1–5|doi=10.1016/j.cancergen.2020.05.001|issn=2210-7762|pmid=32531723}}</ref>
*BLL-11q patients treated with R-CHOP (DLBCL treatment) have a higher risk of relapse than those treated with traditional BL treatment <ref name=":5" /> <ref name=":0" />
*BLL-11q patients treated with R-CHOP (DLBCL treatment) have a higher risk of relapse than those treated with traditional BL treatment <ref name=":5" /> <ref name=":0">{{Cite journal|last=Rymkiewicz|first=Grzegorz|last2=Grygalewicz|first2=Beata|last3=Chechlinska|first3=Magdalena|last4=Blachnio|first4=Katarzyna|last5=Bystydzienski|first5=Zbigniew|last6=Romejko-Jarosinska|first6=Joanna|last7=Woroniecka|first7=Renata|last8=Zajdel|first8=Michalina|last9=Domanska-Czyz|first9=Katarzyna|date=2018-05|title=A comprehensive flow-cytometry-based immunophenotypic characterization of Burkitt-like lymphoma with 11q aberration|url=http://www.nature.com/articles/modpathol2017186|journal=Modern Pathology|language=en|volume=31|issue=5|pages=732–743|doi=10.1038/modpathol.2017.186|issn=0893-3952}}</ref>


Tentatively appears to portend a better prognosis with high likelihood of years of remission <ref name=":6" /> <ref name=":9" /> <ref name=":5" /><ref name=":3" />
Tentatively appears to portend a better prognosis with high likelihood of years of remission <ref name=":6" /> <ref name=":9" /> <ref name=":5" /><ref name=":3" />


*100% 2 year event free survival in pediatric cohort<ref name=":4" />
*100% 2 year event free survival in pediatric cohort<ref name=":4">{{Cite journal|last=Au‐Yeung|first=Rex K. H.|last2=Arias Padilla|first2=Laura|last3=Zimmermann|first3=Martin|last4=Oschlies|first4=Ilske|last5=Siebert|first5=Reiner|last6=Woessmann|first6=Wilhelm|last7=Burkhardt|first7=Birgit|last8=Klapper|first8=Wolfram|date=2020-09|title=Experience with provisional WHO‐entities large B‐cell lymphoma with IRF4 ‐rearrangement and Burkitt‐like lymphoma with 11q aberration in paediatric patients of the NHL‐BFM group|url=https://onlinelibrary.wiley.com/doi/10.1111/bjh.16578|journal=British Journal of Haematology|language=en|volume=190|issue=5|pages=753–763|doi=10.1111/bjh.16578|issn=0007-1048}}</ref>
*
*


[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases H]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases H]]
<references />
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