HAEM5:Hairy cell leukaemia: Difference between revisions
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{{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.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
<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:Hairy Cell Leukemia]]. | ||
}}</blockquote> | }}</blockquote> | ||
<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 | |||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
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|Hairy cell leukaemia | |Hairy cell leukaemia | ||
|} | |} | ||
==Related Terminology== | |||
== | |||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
|Acceptable | |Acceptable | ||
| | |N/A | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
| | |N/A | ||
|} | |} | ||
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*Single case report of IGH-BRAF fusion positive, BRAF p.Val600Glu mutation negative HCL<ref name=":3" /> | *Single case report of IGH-BRAF fusion positive, BRAF p.Val600Glu mutation negative HCL<ref name=":3" /> | ||
*Single case report of IGH-CCND1 fusion positive, BRAF p.Val600Glu mutation positive HCL<ref name=":4" /> | *Single case report of IGH-CCND1 fusion positive, BRAF p.Val600Glu mutation positive HCL<ref name=":4" /> | ||
<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> | ||
*No consistent gene fusions | *No consistent gene fusions | ||
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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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==Individual Region Genomic Gain/Loss/LOH== | ==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" | |||
|- | |||
!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> | |||
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). | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span> | |||
8 | |||
|<span class="blue-text">EXAMPLE:</span> Gain | |||
|<span class="blue-text">EXAMPLE:</span> | |||
chr8 | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Unknown | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
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|<span class="blue-text">EXAMPLE:</span> | |||
Common recurrent secondary finding for t(8;21) (add references). | |||
|- | |||
|<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. | |||
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{| class="wikitable" | {| class="wikitable" | ||
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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> | ||
*Recurrent gains and losses were found to be absent in HCLs from Chinese patients<ref>{{Cite journal|last=Zhang|first=Rui|last2=Wu|first2=Yongli|last3=Wang|first3=Xianfu|last4=Lu|first4=Xianglan|last5=Li|first5=Yan|last6=Li|first6=Shibo|last7=Yan|first7=Xiaojing|date=2020|title=Difference of genomic copy numbers alterations between hairy cell leukemia-variant and classical hairy cell leukemia: a pilot retrospective study in Chinese|url=https://www.ncbi.nlm.nih.gov/pubmed/32132867|journal=International Journal of Medical Sciences|volume=17|issue=3|pages=325–331|doi=10.7150/ijms.39307|issn=1449-1907|pmc=7053350|pmid=32132867}}</ref> | *Recurrent gains and losses were found to be absent in HCLs from Chinese patients<ref>{{Cite journal|last=Zhang|first=Rui|last2=Wu|first2=Yongli|last3=Wang|first3=Xianfu|last4=Lu|first4=Xianglan|last5=Li|first5=Yan|last6=Li|first6=Shibo|last7=Yan|first7=Xiaojing|date=2020|title=Difference of genomic copy numbers alterations between hairy cell leukemia-variant and classical hairy cell leukemia: a pilot retrospective study in Chinese|url=https://www.ncbi.nlm.nih.gov/pubmed/32132867|journal=International Journal of Medical Sciences|volume=17|issue=3|pages=325–331|doi=10.7150/ijms.39307|issn=1449-1907|pmc=7053350|pmid=32132867}}</ref> | ||
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---- | ---- | ||
</blockquote> | </blockquote> | ||
==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 | |||
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|- | |||
|<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 | |||
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IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%<ref name=":0" /> of HCL but has predictive and prognostic implications<ref name=":7" />. | IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%<ref name=":0" /> of HCL but has predictive and prognostic implications<ref name=":7" />. | ||
<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> | ||
*IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%<ref name=":0" /> of HCL but has predictive and prognostic implications<ref name=":7">{{Cite journal|last=Arons|first=Evgeny|last2=Kreitman|first2=Robert J.|date=2011|title=Molecular variant of hairy cell leukemia with poor prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/21599610|journal=Leukemia & Lymphoma|volume=52 Suppl 2|pages=99–102|doi=10.3109/10428194.2011.565841|issn=1029-2403|pmid=21599610}}</ref>. | *IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%<ref name=":0" /> of HCL but has predictive and prognostic implications<ref name=":7">{{Cite journal|last=Arons|first=Evgeny|last2=Kreitman|first2=Robert J.|date=2011|title=Molecular variant of hairy cell leukemia with poor prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/21599610|journal=Leukemia & Lymphoma|volume=52 Suppl 2|pages=99–102|doi=10.3109/10428194.2011.565841|issn=1029-2403|pmid=21599610}}</ref>. | ||
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</blockquote> | </blockquote> | ||
==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 | |||
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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. | |||
{| class="wikitable" | {| class="wikitable" | ||
|- | |- | ||
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<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> | ||
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</blockquote> | </blockquote> | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
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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> | ||
{| class="wikitable" | {| class="wikitable" | ||
!Molecular feature | !Molecular feature | ||
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==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 | |||
Negative - CD5, CD10 (10-20% may be positive), CD23, CD27 | |||
==Links== | ==Links== | ||