Compendium of Cancer Genome Aberrations

HAEM5:Hairy cell leukaemia: Difference between revisions

[unchecked revision][checked revision]
← Older edit
VisualWikitext
No edit summary
No edit summary
 
(6 intermediate revisions by 2 users not shown)
Line 1: Line 1:
{{DISPLAYTITLE:Hairy cell leukaemia}}
{{DISPLAYTITLE:Hairy cell leukaemia}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


Line 9: Line 8:


<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], 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); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. 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>
<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], 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); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. 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)*==
==Primary Author(s)*==
Snehal Patel, MD, PhD, Michael Lack, DO, Shivani Golem, PhD FACMG
Snehal Patel, MD, PhD, Michael Lack, DO, Shivani Golem, PhD FACMG
__TOC__


==WHO Classification of Disease==
==WHO Classification of Disease==
Line 35: Line 32:
|Hairy cell leukaemia
|Hairy cell leukaemia
|}
|}
==Related Terminology==


==Definition / Description of Disease==
*Hairy cell leukemia (HCL) is a rare indolent neoplasm of B-cell origin seen mostly in adults
*Name derives from the the hair-like projections of the cytoplasm that surround the cells
*Hairy cells most closely resemble mature lymphoid cells
*Marked splenomegaly and marrow infiltration result in left flank discomfort, fatigue, and susceptibility to infections
*Most respond well to monotherapy with a purine analog or interferon alpha
==Synonyms / Terminology==
*Leukemic reticuloendotheliosis
==Epidemiology / Prevalence==
*Incidence (age adjusted) ~ 0.3/100,000
*2% of lymphoid leukemias
*Median age:  58 years, rarely in patients in their 20s
*Males:Females:  4:1
*Whites >> Blacks
*78% to 92% 5yr survival
*
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref>{{Cite journal|last=Lr|first=Teras|last2=Ce|first2=DeSantis|last3=Jr|first3=Cerhan|last4=Lm|first4=Morton|last5=A|first5=Jemal|last6=Cr|first6=Flowers|date=2016|title=2016 US Lymphoid Malignancy Statistics by World Health Organization Subtypes|url=https://pubmed.ncbi.nlm.nih.gov/27618563/|language=en|pmid=27618563}}</ref><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Clinical Features==
{| class="wikitable"
|'''Signs and Symptoms'''
|
*Asymptomatic (incidental finding on complete blood counts)
*B-symptoms (weight loss, fever, night sweats)
*Fatigue
*Splenic enlargement and discomfort
*Recurrent infections
*Lymphadenopathy (rare)
|-
|'''Laboratory Findings'''
|Pancytopenia (monocytopenia is characteristic)
Lymphocytosis (low level)
|}
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
'''Signs & Symptoms'''
*Asymptomatic (incidental finding on complete blood counts)
*B-symptoms (weight loss, fever, night sweats)
*Fatigue
*LUQ pain (splenomegaly)
*Lymphadenopathy (uncommon)
'''Laboratory findings'''
*Cytopenias
*Monocytopenia
*Lymphocytosis (low level)
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":2">{{Cite journal|last=Grever|first=Michael R.|last2=Abdel-Wahab|first2=Omar|last3=Andritsos|first3=Leslie A.|last4=Banerji|first4=Versha|last5=Barrientos|first5=Jacqueline|last6=Blachly|first6=James S.|last7=Call|first7=Timothy G.|last8=Catovsky|first8=Daniel|last9=Dearden|first9=Claire|date=2017|title=Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia|url=https://ashpublications.org/blood/article/129/5/553/36153/Consensus-guidelines-for-the-diagnosis-and|journal=Blood|language=en|volume=129|issue=5|pages=553–560|doi=10.1182/blood-2016-01-689422|issn=0006-4971|pmc=PMC5290982|pmid=27903528}}</ref><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Sites of Involvement==
*Spleen (red pulp)
*Bone marrow
*Liver
*Blood (small number)
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":2" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Morphologic Features==
*Small lymphoid cells
*Abundant pale blue-grey lacey cytoplasm
*Ovoid nuclei ± indentation or folding
*Inconspicuous nucleoli
*Circumferential hairy projections (smear preparations)
*"Fried egg" appearance of cells (tissue sections)
*Marrow (reticulin) fibrosis
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":2" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (B-cell lineage markersl)||CD19, CD20 (bright), CD22, PAX5, FMC7, sIg (bright, monoclonal)
|-
|Positive||CD200 (bright), CD11c, CD103, CD123, CD25, CD72, annexin‐A1, BRAF V600E, phospho-ERK
|-
|Negative||CD5, CD10 (10-20% may be positive), CD23, CD27
|}
<blockquote class="blockedit">{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote>
{| class="wikitable"
|-
!Finding!!Marker
|-
|Positive (B-cell lineage markers)||CD19, CD20 (bright), CD22, PAX5, FMC7, sIg (bright, monoclonal)
|-
|Positive
|CD200 (bright), CD11c, CD103, CD123, CD25, CD72, annexin‐A1, BRAF V600E, phospho-ERK
|-
|Negative||CD5, CD10 (10-20% may be positive), CD23, CD27
|}
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":2" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</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)*
|
|-
|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
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


Line 311: Line 160:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!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>
Line 430: Line 279:
!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>
Line 475: Line 324:
{| 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''
Line 697: Line 546:


==Additional Information==
==Additional Information==
This disease is <u>defined/characterized</u> as detailed below:
*Hairy cell leukemia (HCL) is a rare indolent neoplasm of B-cell origin seen mostly in adults
*Name derives from the the hair-like projections of the cytoplasm that surround the cells
*Hairy cells most closely resemble mature lymphoid cells
*Marked splenomegaly and marrow infiltration result in left flank discomfort, fatigue, and susceptibility to infections
*Most respond well to monotherapy with a purine analog or interferon alpha
The <u>epidemiology/prevalence</u><ref name=":1" /><ref>{{Cite journal|last=Lr|first=Teras|last2=Ce|first2=DeSantis|last3=Jr|first3=Cerhan|last4=Lm|first4=Morton|last5=A|first5=Jemal|last6=Cr|first6=Flowers|date=2016|title=2016 US Lymphoid Malignancy Statistics by World Health Organization Subtypes|url=https://pubmed.ncbi.nlm.nih.gov/27618563/|language=en|pmid=27618563}}</ref> of this disease is detailed below:
*Incidence (age adjusted) ~ 0.3/100,000
*2% of lymphoid leukemias
*Median age:  58 years, rarely in patients in their 20s
*Males:Females:  4:1
*Whites >> Blacks
*78% to 92% 5yr survival
The <u>clinical features</u><ref name=":1" /><ref name=":2">{{Cite journal|last=Grever|first=Michael R.|last2=Abdel-Wahab|first2=Omar|last3=Andritsos|first3=Leslie A.|last4=Banerji|first4=Versha|last5=Barrientos|first5=Jacqueline|last6=Blachly|first6=James S.|last7=Call|first7=Timothy G.|last8=Catovsky|first8=Daniel|last9=Dearden|first9=Claire|date=2017|title=Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia|url=https://ashpublications.org/blood/article/129/5/553/36153/Consensus-guidelines-for-the-diagnosis-and|journal=Blood|language=en|volume=129|issue=5|pages=553–560|doi=10.1182/blood-2016-01-689422|issn=0006-4971|pmc=PMC5290982|pmid=27903528}}</ref> of this disease are detailed below:
* Signs and symptoms - Asymptomatic (incidental finding on complete blood counts); B-symptoms (weight loss, fever, night sweats); Fatigue; Splenic enlargement and discomfort; Recurrent infections; Lymphadenopathy (rare)
* Laboratory findings - Pancytopenia (monocytopenia is characteristic); Lymphocytosis (low level)
The <u>sites of involvement</u><ref name=":1" /><ref name=":2" /> of this disease are detailed below:
*Spleen (red pulp); Bone marrow; Liver; Blood (small number)
The <u>morphologic features</u><ref name=":1" /><ref name=":2" /> of this disease are detailed below:
*Small lymphoid cells; Abundant pale blue-grey lacey cytoplasm; Ovoid nuclei ± indentation or folding; Inconspicuous nucleoli; Circumferential hairy projections (smear preparations); "Fried egg" appearance of cells (tissue sections); Marrow (reticulin) fibrosis
The <u>immunophenotype</u><ref name=":1" /><ref name=":2" /> of this disease is detailed below:
Positive ((B-cell lineage markers) -
Positive - CD19, CD20 (bright), CD22, PAX5, FMC7, sIg (bright, monoclonal)
Positive - CD200 (bright), CD11c, CD103, CD123, CD25, CD72, annexin‐A1, BRAF V600E, phospho-ERK


*N/A
Negative - CD5, CD10 (10-20% may be positive), CD23, CD27


==Links==
==Links==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Hairy_cell_leukaemia"