Hairy cell leukaemia

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Haematolymphoid Tumours (WHO Classification, 5th ed.)

editContent 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.

(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 HUGO-approved gene names and symbols (italicized when appropriate), 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); 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support.)

Primary Author(s)*

Snehal Patel, MD, PhD, Michael Lack, DO, Shivani Golem, PhD FACMG

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category B-cell lymphoid proliferations and lymphomas
Family Mature B-cell neoplasms
Type Splenic B-cell lymphomas and leukaemias
Subtype(s) Hairy cell leukaemia

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements

Put your text here and fill in the table (Instructions: 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.)

Driver Gene Fusion(s) and Common Partner Genes Molecular Pathogenesis Typical Chromosomal Alteration(s) 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
EXAMPLE: ABL1 EXAMPLE: BCR::ABL1 EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1. EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: Common (CML) EXAMPLE: D, P, T EXAMPLE: Yes (WHO, NCCN) EXAMPLE:

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).

EXAMPLE: CIC EXAMPLE: CIC::DUX4 EXAMPLE: Typically, the last exon of CIC is fused to DUX4. The fusion breakpoint in CIC is usually intra-exonic and removes an inhibitory sequence, upregulating PEA3 genes downstream of CIC including ETV1, ETV4, and ETV5. EXAMPLE: t(4;19)(q25;q13) EXAMPLE: Common (CIC-rearranged sarcoma) EXAMPLE: D EXAMPLE:

DUX4 has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).

EXAMPLE: ALK EXAMPLE: ELM4::ALK


Other fusion partners include KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1

EXAMPLE: Fusions result in constitutive activation of the ALK tyrosine kinase. The most common ALK fusion is EML4::ALK, with breakpoints in intron 19 of ALK. At the transcript level, a variable (5’) partner gene is fused to 3’ ALK at exon 20. Rarely, ALK fusions contain exon 19 due to breakpoints in intron 18. EXAMPLE: N/A EXAMPLE: Rare (Lung adenocarcinoma) EXAMPLE: T EXAMPLE:

Both balanced and unbalanced forms are observed by FISH (add references).

EXAMPLE: ABL1 EXAMPLE: N/A EXAMPLE: Intragenic deletion of exons 2–7 in EGFR removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. EXAMPLE: N/A EXAMPLE: Recurrent (IDH-wildtype Glioblastoma) EXAMPLE: D, P, T
  • No consistent gene fusions
  • Single case report of IGH-BRAF fusion positive, BRAF p.Val600Glu mutation negative HCL[1]
  • Single case report of IGH-CCND1 fusion positive, BRAF p.Val600Glu mutation positive HCL[2]
editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.
  • No consistent gene fusions
  • Single case report of IGH-BRAF fusion positive, BRAF p.Val600Glu mutation negative HCL[1]
  • Single case report of IGH-CCND1 fusion positive, BRAF p.Val600Glu mutation positive HCL[2]
End of V4 Section


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)
Alteration Clinical Significance Note
BRAF p.Val600Glu Predictive* vemurafenib for 2nd line; vemurafenib ± rituximab for 3rd line (NCCN, v 1.2020, pg. HCL-A)[3]
BRAF p.Val600Glu Diagnostic May be useful when immunophenotype is equivocal; Excludes HCLv
MAP2K1 Predictive Certain mutations may confer sensitivity to ERK inhibitors
IGHV4-34 utilization Predictive Reduced response to purine analogs[4]
IGHV4-34 utilization Prognostic Less favorable prognosis[4]

*Not all BRAF mutations confer sensitivity to BRAF inhibitors, even if they are activating mutations[5].

End of V4 Section

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table (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.)

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
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE: No EXAMPLE:

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).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE:

Common recurrent secondary finding for t(8;21) (add references).

EXAMPLE:

17

EXAMPLE: Amp EXAMPLE:

17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]

EXAMPLE:

ERBB2

EXAMPLE: D, P, T EXAMPLE:

Amplification of ERBB2 is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.

chromosome[6][7] Alteration Consequence Prevalence
14q22-32 Heterozygous deletion Uncertain 33%
7q Heterozygous deletion LOH of BRAF p.Val600Glu 9-21%
13q Deletion Loss of RB1, miR-15a, and miR-16-1 6%
5 Gain Uncertain 9-15%
editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.
  • Recurrent gains and losses were found to be absent in HCLs from Chinese patients[8]
chromosome[6][7] Alteration Consequence Prevalence
14q22-32 Heterozygous deletion Uncertain 33%
7q Heterozygous deletion LOH of BRAF p.Val600Glu 9-21%
13q Deletion Loss of RB1, miR-15a, and miR-16-1 6%
5 Gain Uncertain 9-15%
End of V4 Section

Characteristic Chromosomal or Other Global Mutational Patterns

Put your text here and fill in the table (Instructions: 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.)

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
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). EXAMPLE: Common (Oligodendroglioma) EXAMPLE: D, P
EXAMPLE:

Microsatellite instability - hypermutated

EXAMPLE: Common (Endometrial carcinoma) EXAMPLE: P, T

IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%[4] of HCL but has predictive and prognostic implications[9].

editv4:Characteristic Chromosomal Aberrations / Patterns
The content below was from the old template. Please incorporate above.
  • IGHV4-34 (Immunoglobulin heavy chain variable segment) utilization is seen only in 10%[4] of HCL but has predictive and prognostic implications[9].
End of V4 Section

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table (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.)

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
EXAMPLE:EGFR


EXAMPLE: Exon 18-21 activating mutations EXAMPLE: Oncogene EXAMPLE: Common (lung cancer) EXAMPLE: T EXAMPLE: Yes (NCCN) EXAMPLE: 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).
EXAMPLE: TP53; Variable LOF mutations


EXAMPLE: Variable LOF mutations EXAMPLE: Tumor Supressor Gene EXAMPLE: Common (breast cancer) EXAMPLE: P EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
EXAMPLE: BRAF; Activating mutations EXAMPLE: Activating mutations EXAMPLE: Oncogene EXAMPLE: Common (melanoma) EXAMPLE: T

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Gene‡ Oncogene/Tumor Suppressor/Other Presumed Mechanism

(LOF/GOF/Other)

Prevalence[10]
BRAF Oncogene GOF 70-100%*
MAP2K1 Oncogene GOF 0-22%*
TP53 Tumor Suppressor LOF 2-28%
KLF2 Oncogene/Tumor Suppressor context dependent[11] 13-16%
CDKN1B Tumor Suppressor LOF 10-16%
ARID1A Tumor Suppressor LOF 4-5%
KMT2C Tumor Suppressor LOF 15%
CREBBP Tumor Suppressor LOF 5-6%


‡Specific mutations in these genes can be found in cBioPortal and COSMIC.

*The WHO states that BRAF p.Val600Glu is detected in virtually all cases and notes that the classification of B-cell leukemias that are immunophenotypically and morphologically classified as HCL but lack BRAF activating mutations (but instead have MAP2K1 activating mutations and use the IGHV4-34 gene segment) is uncertain. These seem to be more similar molecularly and clinically to HCLv.

  • BRAF and MAP2K1 activating mutations are mutually exclusive
  • BRAF p.Val600Glu and MAP2K1 account for the primary oncogene drivers in the majority of HCL (~95%)
  • BRAF p.Val600Glu (p.V600E) accounts for the majority of BRAF mutations, but other have been reported[12]
  • HCLs that utilize the IGVH4-34 segment lack BRAF p.Val600Glu mutations[13] and instead harbor MAP2K1 mutations in most cases[14]


editv4:Gene Mutations (SNV/INDEL)
The content below was from the old template. Please incorporate above.
Gene‡ Oncogene/Tumor Suppressor/Other Presumed Mechanism

(LOF/GOF/Other)

Prevalence[10]
BRAF Oncogene GOF 70-100%*
MAP2K1 Oncogene GOF 0-22%*
TP53 Tumor Suppressor LOF 2-28%
KLF2 Oncogene/Tumor Suppressor context dependent[11] 13-16%
CDKN1B Tumor Suppressor LOF 10-16%
ARID1A Tumor Suppressor LOF 4-5%
KMT2C Tumor Suppressor LOF 15%
CREBBP Tumor Suppressor LOF 5-6%

‡Specific mutations in these genes can be found in cBioPortal and COSMIC.

*The WHO states that BRAF p.Val600Glu is detected in virtually all cases and notes that the classification of B-cell leukemias that are immunophenotypically and morphologically classified as HCL but lack BRAF activating mutations (but instead have MAP2K1 activating mutations and use the IGHV4-34 gene segment) is uncertain. These seem to be more similar molecularly and clinically to HCLv.

  • BRAF and MAP2K1 activating mutations are mutually exclusive
  • BRAF p.Val600Glu and MAP2K1 account for the primary oncogene drivers in the majority of HCL (~95%)
  • BRAF p.Val600Glu (p.V600E) accounts for the majority of BRAF mutations, but other have been reported[12]
  • HCLs that utilize the IGVH4-34 segment lack BRAF p.Val600Glu mutations[13] and instead harbor MAP2K1 mutations in most cases[14]
End of V4 Section

Epigenomic Alterations

  • Altered epigenetic regulation is expected due to alterations in KMT2C and ARID1A in a subset of HCLs
    • KMT2C is a histone methyltransferase
    • ARID1A is a SWI/SNF family member

Genes and Main Pathways Involved

Molecular feature Pathway Pathophysiologic outcome
BRAF & MAP2K1 activating mutations

(IGH-BRAF fusion, 1 report[1])

MAPK signaling Increased cell growth and proliferation
CDKN1B inactivating mutations

(IGH-CCND1 fusion, 1 report[2])

Cell cycle regulation Unregulated cell division
KMT2C & ARID1A inactivating mutaitons Histone modification, chromatin remodeling Abnormal gene expression program
editv4:Genes and Main Pathways Involved
The content below was from the old template. Please incorporate above.
Molecular feature Pathway Pathophysiologic outcome
BRAF & MAP2K1 activating mutations

(IGH-BRAF fusion, 1 report[1])

MAPK signaling Increased cell growth and proliferation
CDKN1B inactivating mutations

(IGH-CCND1 fusion, 1 report[2])

Cell cycle regulation Unregulated cell division
KMT2C & ARID1A inactivating mutaitons Histone modification, chromatin remodeling Abnormal gene expression program
End of V4 Section

Genetic Diagnostic Testing Methods

  • Morphology and immunophenotyping (IHC or flow cytometry) are adequate for diagnosis in nearly all cases
  • BRAF p.Val600Glu testing may be useful diagnostically in rare situations where clinicopathologic findings are equivocal
  • BRAF p.Val600Glu may be detected by IHC using a mutant-specific antibody[15][16] or various molecular methods (NGS, real-time PCR, massARRAY, etc.)
  • The mutant-specific antibody does not detect other BRAF mutations
  • BRAF p.Val600Glu and Non-p.Val600Glu mutations and MAP2K1 mutations can be interrogated with NGS in a single assay[10]
  • IGHV4-34 utilization can be detected by NGS

Familial Forms

  • Familial association has been reported in several case reports
  • Some linked to various HLA type[17]
  • Others to familial occupation[18]

Additional Information

This disease is defined/characterized 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 epidemiology/prevalence[10][19] 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 clinical features[10][20] 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 sites of involvement[10][20] of this disease are detailed below:

  • Spleen (red pulp); Bone marrow; Liver; Blood (small number)

The morphologic features[10][20] 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 immunophenotype[10][20] 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

References

(use the "Cite" icon at the top of the page) (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.)

  1. ↑ Jump up to: 1.0 1.1 1.2 1.3 Thompson, Ella R.; et al. (2020). "Detection of an IGH-BRAF fusion in a patient with BRAF Val600Glu negative hairy cell leukemia". Leukemia & Lymphoma: 1–3. doi:10.1080/10428194.2020.1753045. ISSN 1029-2403. PMID 32319330 Check |pmid= value (help).
  2. ↑ Jump up to: 2.0 2.1 2.2 2.3 Rahman, Zaid Abdel; et al. (2020). "Hairy cell leukemia with CCND1/IGH fusion gene and BRAF V600E mutation". Leukemia Research Reports. 13: 100197. doi:10.1016/j.lrr.2020.100197. ISSN 2213-0489. PMC 7096740 Check |pmc= value (help). PMID 32257795 Check |pmid= value (help).
  3. ↑ National Comprehensive Cancer Network (January 2020). "NCCN Clinical Practice Guidelines in Oncology: Hairy Cell Leukemia" (PDF).CS1 maint: display-authors (link)
  4. ↑ Jump up to: 4.0 4.1 4.2 4.3 Arons, Evgeny; et al. (2009). "VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy". Blood. 114 (21): 4687–4695. doi:10.1182/blood-2009-01-201731. ISSN 1528-0020. PMC 2780305. PMID 19745070.
  5. ↑ Bracht, Jillian Wilhelmina Paulina; et al. (2019). "BRAF Mutations Classes I, II, and III in NSCLC Patients Included in the SLLIP Trial: The Need for a New Pre-Clinical Treatment Rationale". Cancers. 11 (9). doi:10.3390/cancers11091381. ISSN 2072-6694. PMC 6770188. PMID 31533235.
  6. ↑ Jump up to: 6.0 6.1 Durham, Benjamin H.; et al. (2017). "Genomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations". Blood. 130 (14): 1644–1648. doi:10.1182/blood-2017-01-765107. ISSN 1528-0020. PMC 5630011. PMID 28801450.
  7. ↑ Jump up to: 7.0 7.1 A, Nordgren; et al. (2010). "Characterisation of Hairy Cell Leukaemia by Tiling Resolution Array-Based Comparative Genome Hybridisation: A Series of 13 Cases and Review of the Literature". PMID 19682064.
  8. ↑ Zhang, Rui; et al. (2020). "Difference of genomic copy numbers alterations between hairy cell leukemia-variant and classical hairy cell leukemia: a pilot retrospective study in Chinese". International Journal of Medical Sciences. 17 (3): 325–331. doi:10.7150/ijms.39307. ISSN 1449-1907. PMC 7053350 Check |pmc= value (help). PMID 32132867 Check |pmid= value (help).
  9. ↑ Jump up to: 9.0 9.1 Arons, Evgeny; et al. (2011). "Molecular variant of hairy cell leukemia with poor prognosis". Leukemia & Lymphoma. 52 Suppl 2: 99–102. doi:10.3109/10428194.2011.565841. ISSN 1029-2403. PMID 21599610.
  10. ↑ Jump up to: 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 Maitre, Elsa; et al. (2019). "Hairy cell leukemia: 2020 update on diagnosis, risk stratification, and treatment". American Journal of Hematology. 94 (12): 1413–1422. doi:10.1002/ajh.25653. ISSN 1096-8652. PMID 31591741.
  11. ↑ Jump up to: 11.0 11.1 Wang, Chunmei; et al. (2017). "Krüppel-like factor 2 suppresses human gastric tumorigenesis through inhibiting PTEN/AKT signaling". Oncotarget. 8 (59): 100358–100370. doi:10.18632/oncotarget.22229. ISSN 1949-2553. PMC 5725026. PMID 29245984.
  12. ↑ Jump up to: 12.0 12.1 Tschernitz, Sebastian; et al. (2014). "Alternative BRAF mutations in BRAF V600E-negative hairy cell leukaemias". British Journal of Haematology. 165 (4): 529–533. doi:10.1111/bjh.12735. ISSN 1365-2141. PMID 24433452.
  13. ↑ Jump up to: 13.0 13.1 Xi, Liqiang; et al. (2012). "Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation". Blood. 119 (14): 3330–3332. doi:10.1182/blood-2011-09-379339. ISSN 1528-0020. PMC 3321859. PMID 22210875.
  14. ↑ Jump up to: 14.0 14.1 Waterfall, Joshua J.; et al. (2014). "High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias". Nature Genetics. 46 (1): 8–10. doi:10.1038/ng.2828. ISSN 1546-1718. PMC 3905739. PMID 24241536.
  15. ↑ Ritterhouse, Lauren L.; et al. (2015). "BRAF V600E mutation-specific antibody: A review". Seminars in Diagnostic Pathology. 32 (5): 400–408. doi:10.1053/j.semdp.2015.02.010. ISSN 0740-2570. PMID 25744437.
  16. ↑ Loo, Eric; et al. (2018). "BRAF V600E Mutation Across Multiple Tumor Types: Correlation Between DNA-based Sequencing and Mutation-specific Immunohistochemistry". Applied immunohistochemistry & molecular morphology: AIMM. 26 (10): 709–713. doi:10.1097/PAI.0000000000000516. ISSN 1533-4058. PMID 29271794.
  17. ↑ Villemagne, Bruno; et al. (2005). "Two new cases of familial hairy cell leukemia associated with HLA haplotypes A2, B7, Bw4, Bw6". Leukemia & Lymphoma. 46 (2): 243–245. doi:10.1080/10428190400013589. ISSN 1042-8194. PMID 15621808.
  18. ↑ Casado, L. F.; et al. (1998). "Familial hairy cell leukemia: a HLA-linked disease or farmers-linked disease?". Haematologica. 83 (8): 751–752. ISSN 0390-6078. PMID 9793263.
  19. ↑ Lr, Teras; et al. (2016). "2016 US Lymphoid Malignancy Statistics by World Health Organization Subtypes". PMID 27618563.
  20. ↑ Jump up to: 20.0 20.1 20.2 20.3 Grever, Michael R.; et al. (2017). "Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia". Blood. 129 (5): 553–560. doi:10.1182/blood-2016-01-689422. ISSN 0006-4971. PMC 5290982. PMID 27903528.CS1 maint: PMC format (link)


Notes

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Prior Author(s):


*Citation of this Page: “Hairy cell leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 02/28/2025, https://ccga.io/index.php/HAEM5:Hairy_cell_leukaemia.

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