View source for HAEM5:High grade B-cell lymphoma with 11q aberrations

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

{{Under Construction}}

<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|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>

<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>

==Primary Author(s)*==

Lauren Shealy, MD, Medical University of South Carolina

Daynna Wolff, PhD, Medical University of South Carolina

__TOC__

==Cancer Category / Type==

Mature B-cell lymphoma

==Cancer Sub-Classification / Subtype==

Put your text here 

==Definition / Description of Disease==

Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </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"
|'''Signs and Symptoms'''
|Small, localized lymphadenopathy (most common) <ref name=":6" />bulky tumors (>7-20 cm) possible, mostly abdominal <ref name=":0" /> 
1/3 of pediatric patients B-symptoms (weight loss, fever, night sweats) <ref name=":4" />
|-
|'''Laboratory Findings'''
|LDH elevation possible, generally below 500 <ref name=":0" /> <ref name=":4" />
|}

==Sites of Involvement==

*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'') </span>

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||EXAMPLE CD1
|-
|Positive (subset)||EXAMPLE CD2
|-
|Negative (universal)||EXAMPLE CD3
|-
|Negative (subset)||EXAMPLE CD4
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the previous version of the page. Please incorporate above.}}
{| class="wikitable sortable"
|-
!Flow Findings!!Marker
|-
|Positive (universal)||CD10, CD20, CD19, CD22, BCL6 <ref name=":0" />
|-
|Positive (subset)||CD16/CD56 (present in 60%), CD8 (present in 40%) <ref name=":0" />
|-
|Negative (universal)||CD5, CD11C, CD23, CD200, BCL2 <ref name=":0" />
|-
|Negative (subset)||CD38 bright (absent 90%) <ref name=":0" />
|}
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>

*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>
==Chromosomal Rearrangements (Gene Fusions)==

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>

{| class="wikitable sortable"
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|11
|Loss<ref name=":3" />
|chr11: 128,177,670-134,931,948<ref name=":3" />
|11q24.4q25<ref name=":3" />
|Yes
|unknown
|unknown
|
|-
|11
|Gain<ref name=":3" />
|chr11: 117,815,640-119,275,901 <ref name=":3" />
|11q23.3<ref name=":3" />
|Yes
|unknown
|unknown
|
|-
|11
|minimal duplication
region, 11.95 Mbp<ref name=":3" />
|ch11: 109,285,414-121,236,822 <ref name=":3" />
|11q22.3q24.1<ref name=":3" />
|Yes
|unknown
|unknown
|Minimal duplication region contained PAFAH1B2, USP2, and CBL oncogenes.<ref name=":3" />
|}
==Characteristic Chromosomal Patterns==

*Research up until this point has revealed no conservative breakpoints. <ref name=":3" />

{| class="wikitable sortable"
|-
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|proximal 11q duplications range in size

*often >50 Mbp or <20 Mbp and most often involving the 11q22.2.-23.2 <ref name=":3" />
*can be as proximal as 11q13.3 <ref name=":3" />
*often with inversion <ref name=":3" />
|yes
|unknown
|unknown
| rowspan="2" |The characteristic gains combined with the terminal deletions can occur in the context of myc-positive BL and other myc-negative HGBCLs. The absence of a MYC translocation/amplification in association with this chromosomal pattern is critical to the provisional diagnosis of BLL-11q and may have prognostic and therapeutic implications, which are further discussed below. At least one case has been identified with only proximal gains in the context of UPD.<ref name=":3" />
|-
|terminal 11q deletions range in size

*most often 11q24.1-24.3 <ref name=":3" />
*noted to be as proximal as 11q23.3q25<ref name=":3" />
|yes
|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" />
|unknown
|unknown
|unknown
|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" />
==Gene Mutations (SNV / INDEL)==

*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>
*Mutations listed below where noted to be recurrent in BLL-11q cases. '''Bold genes''' have also been found recurrently mutated in DLCBL. 
**DDX<small>3</small>X<ref name=":6" /><ref name=":13" />
**ETS<small>1</small> coding mutations located a DNA-binding domain, combined with lower RNA expression in BLL-11q cases <ref name=":6" />
**7/15 cases showed mutations in '''GNA<small>13</small>'''<ref name=":13" />
**FOXO1<ref name=":13" />
**3/15 cases showed a Y641 mutational hotspot mutation of '''EZH<small>2</small>''' <ref name=":13" />
**'''TTN'''<ref name=":13" />

Recurrently mutated genes in BLL-11q with known mechanisms that may contribute to pathogenesis. 
{| class="wikitable sortable"
|-
!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)'''
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|BTG2; variable potential LOF mutations


three missense mutations, 1 splice site deletion mutation <ref name=":6" />

<br />
|tumor suppressor gene via inhibition of CCND1 via pRb<ref name=":6" />
|4/11 cases<ref name=":6" />

<br />
|none known
|none known
|unknown
|unknown
|unknown
|<br />
|-
|NFRKB **located in region of terminal deletion


3/4 were stop-gain mutations<ref name=":13" />
|gene associated with INO80 complex<ref name=":13" />
|4/15 cases<ref name=":13" />
|none known
|none known
|unknown
|unknown
|unknown
|NFRKB is within the terminal deletion region, so these mutations would result in a biallelic loss. <ref name=":13" />


See main pathway involvement below. 
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

==Epigenomic Alterations==

*KMT2A has been found to be duplicated and occasionally amplified in numerous cases of BLL-11q<ref name=":3" />
**functions to methylate histones<ref name=":10">{{Cite journal|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=KMT2A}}</ref>
*Found to have mutations in EP300, HIST<small>1</small>H<small>1</small>D, HIST<small>1</small>H<small>2</small>BC, CREBBP, KMT2C, EZH2, ARID1A, KMT2D<ref name=":6" />

==Genes and Main Pathways Involved==

*Given the notable variations in size of the duplicated and deleted regions of BLL-11q, pathogenesis appears to be complex and remains to be elucidated. Still, it is presumed to be a a product of dosage effects produced by the more varied proximal duplications and more consistent terminal deletions.<ref name=":3" />
*Genes found recurrently in '''minimal duplication region''': IL10RA; TMPRSS4; SCN4B; AMICA1; MPZL3; CD3E; CD3D; UBE4A; ATP5L; KMT2A; TTC36, TMEM25, IFT46; ARCN1 <ref name=":2" /> <ref name=":3">{{Cite journal|last=Grygalewicz|first=Beata|last2=Woroniecka|first2=Renata|last3=Rymkiewicz|first3=Grzegorz|last4=Rygier|first4=Jolanta|last5=Borkowska|first5=Klaudia|last6=Kotyl|first6=Aleksandra|last7=Blachnio|first7=Katarzyna|last8=Bystydzienski|first8=Zbigniew|last9=Nowakowska|first9=Beata|date=2018-01-01|title=The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS|url=https://academic.oup.com/ajcp/article/149/1/17/4768236|journal=American Journal of Clinical Pathology|language=en|volume=149|issue=1|pages=17–28|doi=10.1093/ajcp/aqx139|issn=0002-9173|pmc=PMC5848380|pmid=29272887}}</ref>
*Genes found recurrently in terminal deleted region: ETS1; FLT1; KCNJ5; C11orf45; TP53AIP1 <ref name=":2" /> <ref name=":3" />
**ETS1 and FLT1 are candidate tumor supressor genes thought to be involved in the pathogenesis of DLBCL <ref name=":2" /> <ref>{{Cite journal|last=Bonetti|first=Paola|last2=Testoni|first2=Monica|last3=Scandurra|first3=Marta|last4=Ponzoni|first4=Maurilio|last5=Piva|first5=Roberto|last6=Mensah|first6=Afua A.|last7=Rinaldi|first7=Andrea|last8=Kwee|first8=Ivo|last9=Tibiletti|first9=Maria Grazia|date=2013-09-26|title=Deregulation of ETS1 and FLI1 contributes to the pathogenesis of diffuse large B-cell lymphoma|url=https://ashpublications.org/blood/article/122/13/2233/31707/Deregulation-of-ETS1-and-FLI1-contributes-to-the|journal=Blood|language=en|volume=122|issue=13|pages=2233–2241|doi=10.1182/blood-2013-01-475772|issn=0006-4971}}</ref>

<br />'''GENES with PROPOSED/KNOWN CANCER ASSOCIATIONS'''
{| class="wikitable sortable"
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|IL10RA; Duplication
|insulin receptor substrate-2/PI 3-kinase/AKT pathway<ref name=":11">{{Cite journal|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10RA}}</ref>
|increase survival of progenitor myeloid cells<ref name=":11" />
|-
|KMT2A; Duplication
|methylation of histones (turns off genes)<ref name=":10" />
|amplification noted to be associated with bulky BLL-11q tumors >20 cm, mainly located in the retroperitoneum<ref name=":3" />
|-
|USP2; duplication (found 1x) <ref name=":3" />
|deubiquitinase known to target proteins such as MDM2 (udiquinates p53), MDM4, and CCND1<ref name=":12">{{Cite journal|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=USP2}}</ref>
|increased degradation of p53 (less tumor suppressor) and more CCND1-->increased movement from G1 to synthesis<ref name=":12" />
|-
|NFRKB; deleted<ref name=":13" />
|encodes a nuclear factor involved with the INO80 complex<ref name=":13" />
|altered transcriptional regulation <ref name=":13" />
|}
==Genetic Diagnostic Testing Methods==

*Conventional cytogenetics (karyotyping) + FISH using MYC break-apart probe to rule out MYC translocation <ref name=":5" /> <ref name=":9" />
*Chromosomal microarray analysis <ref name=":6" /> <ref name=":9" />

==Familial Forms==

*None known

==Additional Information==

Put your text here

==Links==

[[HAEM5:Burkitt lymphoma]]

==References==
<references /><br />


==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>''Citation of this Page'': “High grade B-cell lymphoma with 11q aberrations”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:High_grade_B-cell_lymphoma_with_11q_aberrations</nowiki>.
==Other Sections==
Cancer Sub-Classification/Subtype


Burkitt-like lymphoma with 11q aberration 


Definition/Description of Disease


Rare aggressive mature B-cell lymphoma   


Synonyms/Terminology


myc-negative Burkitt-like lymphoma (mnBLL, 11q)<ref name=":1" />

non-myc Burkitt-like lymphoma (nmBLL)

BLL, 11q <ref name=":3" />

BLL-11q<ref name=":6" />[[HAEM5:Burkitt lymphoma]]


Clinical Implications


*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>
*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" />

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" />
*

[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases H]]