HAEM5:High-grade B-cell lymphoma, NOS: Difference between revisions
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<blockquote class= | <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:High-Grade B-cell Lymphoma, Not Otherwise Specified (NOS)]]. | ||
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Aiko Otsubo, PhD, Indiana University | Aiko Otsubo, PhD, Indiana University | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
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== | ==Related Terminology== | ||
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|+ | |+ | ||
|Acceptable | |Acceptable | ||
| | |N/A | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
There are no recurrent chromosomal rearrangements associated with HGBL, NOS. | There are no recurrent chromosomal rearrangements associated with HGBL, NOS. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | ||
* Chromosomal Rearrangements (Gene Fusions) | * Chromosomal Rearrangements (Gene Fusions) | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
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* Gene Mutations (SNV/INDEL)}}</blockquote> | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
HGBL, NOS is associated with an aggressive clinical course with poor prognosis. Some studies suggest that despite the poor prognosis, clinical outcomes may be slightly better than those of HGBL with ''MYC'' and ''BCL2'' and/or ''BCL6'' rearrangements<ref name=":3" /><ref>{{Cite journal|last=Lin|first=Pei|last2=Dickason|first2=Timothy J.|last3=Fayad|first3=Luis E.|last4=Lennon|first4=Patrick A.|last5=Hu|first5=Peter|last6=Garcia|first6=Mar|last7=Routbort|first7=Mark J.|last8=Miranda|first8=Roberto|last9=Wang|first9=Xumei|date=2012-03-15|title=Prognostic value of MYC rearrangement in cases of B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/21882178|journal=Cancer|volume=118|issue=6|pages=1566–1573|doi=10.1002/cncr.26433|issn=1097-0142|pmid=21882178}}</ref><ref>{{Cite journal|last=Cook|first=James R.|last2=Goldman|first2=Bryan|last3=Tubbs|first3=Raymond R.|last4=Rimsza|first4=Lisa|last5=Leblanc|first5=Michael|last6=Stiff|first6=Patrick|last7=Fisher|first7=Richard|date=2014-04|title=Clinical significance of MYC expression and/or "high-grade" morphology in non-Burkitt, diffuse aggressive B-cell lymphomas: a SWOG S9704 correlative study|url=https://pubmed.ncbi.nlm.nih.gov/24625415|journal=The American Journal of Surgical Pathology|volume=38|issue=4|pages=494–501|doi=10.1097/PAS.0000000000000147|issn=1532-0979|pmc=3955880|pmid=24625415}}</ref>. Patients with double-expressor lymphoma (DHL) or a ''MYC'' rearrangement (SHL) have shown inferior overall survival than those without them in this entity<ref name=":1" />. A prognostic significance of various factors such as morphology of the tumor cells, types of genetic abnormalities and ''MYC'' translocation partner remains not fully understood since subgroup analysis is very limited and studies on this aspect have been conducted mainly in DLBCL cases<ref name=":0" /><ref>{{Cite journal|last=Rosenwald|first=Andreas|last2=Bens|first2=Susanne|last3=Advani|first3=Ranjana|last4=Barrans|first4=Sharon|last5=Copie-Bergman|first5=Christiane|last6=Elsensohn|first6=Mad-Helenie|last7=Natkunam|first7=Yaso|last8=Calaminici|first8=Maria|last9=Sander|first9=Birgitta|date=2019-12-10|title=Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium|url=https://pubmed.ncbi.nlm.nih.gov/31498031|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=37|issue=35|pages=3359–3368|doi=10.1200/JCO.19.00743|issn=1527-7755|pmid=31498031}}</ref>. | HGBL, NOS is associated with an aggressive clinical course with poor prognosis. Some studies suggest that despite the poor prognosis, clinical outcomes may be slightly better than those of HGBL with ''MYC'' and ''BCL2'' and/or ''BCL6'' rearrangements<ref name=":3">{{Cite journal|last=Perry|first=Anamarija M.|last2=Crockett|first2=David|last3=Dave|first3=Bhavana J.|last4=Althof|first4=Pamela|last5=Winkler|first5=Lisa|last6=Smith|first6=Lynette M.|last7=Aoun|first7=Patricia|last8=Chan|first8=Wing C.|last9=Fu|first9=Kai|date=2013-07|title=B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and burkitt lymphoma: study of 39 cases|url=https://pubmed.ncbi.nlm.nih.gov/23600716|journal=British Journal of Haematology|volume=162|issue=1|pages=40–49|doi=10.1111/bjh.12343|issn=1365-2141|pmid=23600716}}</ref><ref>{{Cite journal|last=Lin|first=Pei|last2=Dickason|first2=Timothy J.|last3=Fayad|first3=Luis E.|last4=Lennon|first4=Patrick A.|last5=Hu|first5=Peter|last6=Garcia|first6=Mar|last7=Routbort|first7=Mark J.|last8=Miranda|first8=Roberto|last9=Wang|first9=Xumei|date=2012-03-15|title=Prognostic value of MYC rearrangement in cases of B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/21882178|journal=Cancer|volume=118|issue=6|pages=1566–1573|doi=10.1002/cncr.26433|issn=1097-0142|pmid=21882178}}</ref><ref>{{Cite journal|last=Cook|first=James R.|last2=Goldman|first2=Bryan|last3=Tubbs|first3=Raymond R.|last4=Rimsza|first4=Lisa|last5=Leblanc|first5=Michael|last6=Stiff|first6=Patrick|last7=Fisher|first7=Richard|date=2014-04|title=Clinical significance of MYC expression and/or "high-grade" morphology in non-Burkitt, diffuse aggressive B-cell lymphomas: a SWOG S9704 correlative study|url=https://pubmed.ncbi.nlm.nih.gov/24625415|journal=The American Journal of Surgical Pathology|volume=38|issue=4|pages=494–501|doi=10.1097/PAS.0000000000000147|issn=1532-0979|pmc=3955880|pmid=24625415}}</ref>. Patients with double-expressor lymphoma (DHL) or a ''MYC'' rearrangement (SHL) have shown inferior overall survival than those without them in this entity<ref name=":1">{{Cite journal|last=Li|first=Jiayin|last2=Liu|first2=Xiaoyin|last3=Yao|first3=Zhihua|last4=Zhang|first4=Mingzhi|date=2020|title=High-Grade B-Cell Lymphomas, Not Otherwise Specified: A Study of 41 Cases|url=https://pubmed.ncbi.nlm.nih.gov/32214848|journal=Cancer Management and Research|volume=12|pages=1903–1912|doi=10.2147/CMAR.S243753|issn=1179-1322|pmc=7082796|pmid=32214848}}</ref>. A prognostic significance of various factors such as morphology of the tumor cells, types of genetic abnormalities and ''MYC'' translocation partner remains not fully understood since subgroup analysis is very limited and studies on this aspect have been conducted mainly in DLBCL cases<ref name=":0">Kluin PM, et al., (2017). High-grade B-cell lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p340-341.</ref><ref>{{Cite journal|last=Rosenwald|first=Andreas|last2=Bens|first2=Susanne|last3=Advani|first3=Ranjana|last4=Barrans|first4=Sharon|last5=Copie-Bergman|first5=Christiane|last6=Elsensohn|first6=Mad-Helenie|last7=Natkunam|first7=Yaso|last8=Calaminici|first8=Maria|last9=Sander|first9=Birgitta|date=2019-12-10|title=Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium|url=https://pubmed.ncbi.nlm.nih.gov/31498031|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=37|issue=35|pages=3359–3368|doi=10.1200/JCO.19.00743|issn=1527-7755|pmid=31498031}}</ref>. | ||
There is no established standard therapy. In some studies patients treated with a high-intensity chemotherapy (DA-EPOCH-R, R-CODOX-M/IVAC, or R-Hyper-CVAD) have shown better clinical outcomes than those treated with R-CHOP, but further studies are needed to establish optimal treatment<ref name=":1" />. | There is no established standard therapy. In some studies patients treated with a high-intensity chemotherapy (DA-EPOCH-R, R-CODOX-M/IVAC, or R-Hyper-CVAD) have shown better clinical outcomes than those treated with R-CHOP, but further studies are needed to establish optimal treatment<ref name=":1" />. | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chr #!! | !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 | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
The 11q-gain/loss aberration has been reported in two cases of HGBL, NOS with ''MYC'' rearrangement<ref name=":5">{{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=2017-12-20|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://pubmed.ncbi.nlm.nih.gov/29272887|journal=American Journal of Clinical Pathology|volume=149|issue=1|pages=17–28|doi=10.1093/ajcp/aqx139|issn=1943-7722|pmc=5848380|pmid=29272887}}</ref>. The 11q gains in these cases were larger than 50 Mbp, with accompanying 10-18 Mbp terminal telomeric losses. Overlapping duplicated and deleted regions of these cases were shown in the table. | The 11q-gain/loss aberration has been reported in two cases of HGBL, NOS with ''MYC'' rearrangement<ref name=":5">{{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=2017-12-20|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://pubmed.ncbi.nlm.nih.gov/29272887|journal=American Journal of Clinical Pathology|volume=149|issue=1|pages=17–28|doi=10.1093/ajcp/aqx139|issn=1943-7722|pmc=5848380|pmid=29272887}}</ref>. The 11q gains in these cases were larger than 50 Mbp, with accompanying 10-18 Mbp terminal telomeric losses. Overlapping duplicated and deleted regions of these cases were shown in the table. | ||
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!Chromosomal Pattern | !Chromosomal Pattern | ||
!Molecular Pathogenesis | !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> | |<span class="blue-text">EXAMPLE:</span> | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
This entity is genetically heterogeneous and the karyotype is often complex. By definition, concurrent ''MYC'' and ''BCL2'' or ''BCL6'' rearrangements are not seen. Isolated ''MYC'' rearrangement is common, being present in 20-35% of cases<ref name=":0" /><ref name=":1" /><ref name=":3" /><ref name=":4" />. Similarly, isolated rearrangements of ''BCL2'' or/and ''BCL6'' have been reported, occurring 14%-25% of reported cases. Copy number changes or amplification of ''MYC, BCL2'', or/and ''BCL6'' have been reported approximately in 20% of cases<ref name=":1" /><ref name=":3" /><ref name=":4" />. 27-29% of cases do not display any copy number or structural abnormalities involving ''MYC'', ''BCL2'', or ''BCL6''<ref name=":1" /><ref name=":3" />. | This entity is genetically heterogeneous and the karyotype is often complex. By definition, concurrent ''MYC'' and ''BCL2'' or ''BCL6'' rearrangements are not seen. Isolated ''MYC'' rearrangement is common, being present in 20-35% of cases<ref name=":0" /><ref name=":1" /><ref name=":3" /><ref name=":4">{{Cite journal|last=Li|first=Shaoying|last2=Lin|first2=Pei|last3=Medeiros|first3=L. Jeffrey|date=2018-08|title=Advances in pathological understanding of high-grade B cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/29989509|journal=Expert Review of Hematology|volume=11|issue=8|pages=637–648|doi=10.1080/17474086.2018.1494567|issn=1747-4094|pmid=29989509}}</ref>. Similarly, isolated rearrangements of ''BCL2'' or/and ''BCL6'' have been reported, occurring 14%-25% of reported cases. Copy number changes or amplification of ''MYC, BCL2'', or/and ''BCL6'' have been reported approximately in 20% of cases<ref name=":1" /><ref name=":3" /><ref name=":4" />. 27-29% of cases do not display any copy number or structural abnormalities involving ''MYC'', ''BCL2'', or ''BCL6''<ref name=":1" /><ref name=":3" />. | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene!! | !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'' | |<span class="blue-text">EXAMPLE:</span>''EGFR'' | ||
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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. | |}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. | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
There are few focused studies of sequence variation in HGBL, NOS. One study investigated nine cases, interrogating 13 genes that are frequently mutated in either BL or DLBCL. Variants in ''ID3, CCND3, MYC, BCL2'', ''CREBBP'', and ''SGK1'' were found in these cases, indicating their variant profiles overlap with those of BL and DLBCL. Although the sample size was small, it is noteworthy that ''ID3'' mutations were found in all eight cases with isolated ''MYC'' rearrangements<ref name=":6">{{Cite journal|last=Momose|first=S.|last2=Weißbach|first2=S.|last3=Pischimarov|first3=J.|last4=Nedeva|first4=T.|last5=Bach|first5=E.|last6=Rudelius|first6=M.|last7=Geissinger|first7=E.|last8=Staiger|first8=A. M.|last9=Ott|first9=G.|date=2015-08|title=The diagnostic gray zone between Burkitt lymphoma and diffuse large B-cell lymphoma is also a gray zone of the mutational spectrum|url=https://pubmed.ncbi.nlm.nih.gov/25673238|journal=Leukemia|volume=29|issue=8|pages=1789–1791|doi=10.1038/leu.2015.34|issn=1476-5551|pmid=25673238}}</ref>. | There are few focused studies of sequence variation in HGBL, NOS. One study investigated nine cases, interrogating 13 genes that are frequently mutated in either BL or DLBCL. Variants in ''ID3, CCND3, MYC, BCL2'', ''CREBBP'', and ''SGK1'' were found in these cases, indicating their variant profiles overlap with those of BL and DLBCL. Although the sample size was small, it is noteworthy that ''ID3'' mutations were found in all eight cases with isolated ''MYC'' rearrangements<ref name=":6">{{Cite journal|last=Momose|first=S.|last2=Weißbach|first2=S.|last3=Pischimarov|first3=J.|last4=Nedeva|first4=T.|last5=Bach|first5=E.|last6=Rudelius|first6=M.|last7=Geissinger|first7=E.|last8=Staiger|first8=A. M.|last9=Ott|first9=G.|date=2015-08|title=The diagnostic gray zone between Burkitt lymphoma and diffuse large B-cell lymphoma is also a gray zone of the mutational spectrum|url=https://pubmed.ncbi.nlm.nih.gov/25673238|journal=Leukemia|volume=29|issue=8|pages=1789–1791|doi=10.1038/leu.2015.34|issn=1476-5551|pmid=25673238}}</ref>. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
''MYC'' | ''MYC'' | ||
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(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references /> | (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references /> | ||
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==Notes== | ==Notes== | ||
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<nowiki>*</nowiki>''Citation of this Page'': “High-grade B-cell lymphoma, NOS”. 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,_NOS</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “High-grade B-cell lymphoma, NOS”. 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,_NOS</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases H]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases H]] | |||