HAEM5:Splenic B-cell lymphoma/leukaemia with prominent nucleoli: 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:Hairy Cell Leukemia Variant]].
<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:Hairy Cell Leukemia Variant]].


Note: consider content on the overview page: Splenic B-cell Lymphoma/Leukemia, Unclassifiable
Note: consider content on the overview page: Splenic B-cell Lymphoma/Leukemia, Unclassifiable
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*Snehal Patel, MD, PhD
*Snehal Patel, MD, PhD
__TOC__


==WHO Classification of Disease==
==WHO Classification of Disease==
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==Definition / Description of Disease==
==Related Terminology==
 
*HCLv is a rare chronic neoplasm of B-cell origin seen mostly in adults
*Name derives from clinicopathologic similarity to [[HAEM5:Hairy cell leukaemia|hairy cell leukemia]] (HCL) but with important differences
*Marked splenomegaly and marrow infiltration result in left flank discomfort, fatigue, and susceptibility to infections
*Most respond poorly to monotherapy with a purine analog or interferon alpha (used for HCL)
*Lack [[BRAF]] p.Val600Glu (V600E) mutations but some have mutations in [[MAP2K1]]
 
==Synonyms / Terminology==
 
*Prolymphocytic variant of hairy cell leukemia
 
==Epidemiology / Prevalence==
 
*~0.2% of lymphoid leukemias
*Median age: 70 years
*Males:Females: 2:1


==Clinical Features==
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{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
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'''Signs & Symptoms'''
*Often asymptomatic
*Splenic enlargement and/or discomfort
*B-symptoms (weight loss, fever, night sweats)
*Fatigue
*Bruising
*Lymphadenopathy (uncommon)
'''Laboratory findings'''
*Cytopenias
*Lymphocytosis
*No monocytopenia
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==Sites of Involvement==
*Spleen (red pulp)
*Bone marrow
*Blood
*Liver
*Lymph node (uncommon)
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==Morphologic Features==
*Intermediate-sized lymphoid cells
*Abundant pale blue-grey lacey cytoplasm
*prolymphocytoid or blastoid nuclear features
*Cytoplasmic projections either villous or hair-like
*"Fried egg" appearance of cells (tissue sections)
*Interstitial pattern of marrow involvement
*No/minimal reticulin fibrosis
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==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (B-cell lineage markers)||CD19, CD20 (bright), CD22, CD79b, PAX5, FMC7, sIg (bright, monotypic)
|-
|Positive||CD11c, CD72, CD103
|-
|Negative ([[HAEM5:Hairy cell leukaemia|HCL]] markers)||CD25, CD123, annexin A1, TRAP, BRAF V600E
|-
|Negative
|CD5, CD10, CD23, CD38, CD43, BCL1
|}
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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
|
|}
<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"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|Splenic B-cell lymphoma/leukaemia, unclassifiable
|-
|-
|Not Recommended
|Not Recommended
|
|Hairy cell leukaemia variant; B-prolymphocytic leukaemia
|}
|}


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*No consistent gene fusions
*No consistent gene fusions
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<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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|-
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!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!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'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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{| class="wikitable sortable"
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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*Preferential utilization of IGHV4-34 (Immunoglobulin heavy chain variable segment) in 40%<ref>{{Cite journal|last=Xi|first=Liqiang|last2=Arons|first2=Evgeny|last3=Navarro|first3=Winnifred|last4=Calvo|first4=Katherine R.|last5=Stetler-Stevenson|first5=Maryalice|last6=Raffeld|first6=Mark|last7=Kreitman|first7=Robert J.|date=2012|title=Both variant and IGHV4-34–expressing hairy cell leukemia lack the BRAF V600E mutation|url=https://ashpublications.org/blood/article/119/14/3330/29588/Both-variant-and-IGHV434expressing-hairy-cell|journal=Blood|language=en|volume=119|issue=14|pages=3330–3332|doi=10.1182/blood-2011-09-379339|issn=0006-4971|pmc=PMC3321859|pmid=22210875}}</ref> and has clinical implications<ref name=":4">{{Cite journal|last=Arons|first=Evgeny|last2=Suntum|first2=Tara|last3=Stetler-Stevenson|first3=Maryalice|last4=Kreitman|first4=Robert J.|date=2009|title=VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy|url=https://ashpublications.org/blood/article/114/21/4687/26430/VH434-hairy-cell-leukemia-a-new-variant-with-poor|journal=Blood|language=en|volume=114|issue=21|pages=4687–4695|doi=10.1182/blood-2009-01-201731|issn=0006-4971|pmc=PMC2780305|pmid=19745070}}</ref>
*Preferential utilization of IGHV4-34 (Immunoglobulin heavy chain variable segment) in 40%<ref>{{Cite journal|last=Xi|first=Liqiang|last2=Arons|first2=Evgeny|last3=Navarro|first3=Winnifred|last4=Calvo|first4=Katherine R.|last5=Stetler-Stevenson|first5=Maryalice|last6=Raffeld|first6=Mark|last7=Kreitman|first7=Robert J.|date=2012|title=Both variant and IGHV4-34–expressing hairy cell leukemia lack the BRAF V600E mutation|url=https://ashpublications.org/blood/article/119/14/3330/29588/Both-variant-and-IGHV434expressing-hairy-cell|journal=Blood|language=en|volume=119|issue=14|pages=3330–3332|doi=10.1182/blood-2011-09-379339|issn=0006-4971|pmc=PMC3321859|pmid=22210875}}</ref> and has clinical implications<ref name=":4">{{Cite journal|last=Arons|first=Evgeny|last2=Suntum|first2=Tara|last3=Stetler-Stevenson|first3=Maryalice|last4=Kreitman|first4=Robert J.|date=2009|title=VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy|url=https://ashpublications.org/blood/article/114/21/4687/26430/VH434-hairy-cell-leukemia-a-new-variant-with-poor|journal=Blood|language=en|volume=114|issue=21|pages=4687–4695|doi=10.1182/blood-2009-01-201731|issn=0006-4971|pmc=PMC2780305|pmid=19745070}}</ref>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!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.


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{| class="wikitable"
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!Molecular feature
!Molecular feature
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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 />


'''
<br />


==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Splenic B-cell lymphoma/leukaemia with prominent nucleoli”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_B-cell_lymphoma/leukaemia_with_prominent_nucleoli</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Splenic B-cell lymphoma/leukaemia with prominent nucleoli”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_B-cell_lymphoma/leukaemia_with_prominent_nucleoli</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases S]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases S]]