Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Michelle Don, MD TOC ==Cancer Category/Type== Lymphoproliferative disorder (provisional entity)Villamor N,..."

2023-11-03T17:47:58Z

Created page with "{{Under Construction}} ==Primary Author(s)*== Michelle Don, MD __TOC__ ==Cancer Category/Type== Lymphoproliferative disorder (provisional entity)<ref name=":0">Villamor N,..."

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{{Under Construction}}
==Primary Author(s)*==

Michelle Don, MD

__TOC__

==Cancer Category/Type==

Lymphoproliferative disorder (provisional entity)<ref name=":0">Villamor N, et al., (2017). Chronic lymphoproliferative disorder of NK cells, 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, p 3351-352</ref>

==Cancer Sub-Classification / Subtype==

Put your text here

==Definition / Description of Disease<ref name=":0" />==

*Persistent (>6 months) increase in peripheral blood NK-cell count without a clearly identifiable cause
*NK-cell count usually >2x10<sup>9</sup>/L
*Indolent

==Synonyms / Terminology<ref name=":0" />==

*Chronic NK-lymphocytosis
*Chronic NK large granular lymphocyte lymphoproliferative disorder
*Indolent large granular NK-cell lymphoproliferative disorder

==Epidemiology / Prevalence<ref name=":0" />==

*Adults (median age 60 years old)
*No known racial or genetic predisposition

==Sites of Involvement<ref name=":0" />==

*Peripheral blood
*Bone marrow

==Morphologic Features<ref name=":0" />==

*NK-cells are typically intermediate in size
*Monotonous cells with round nuclei and moderate cytoplasm with fine or coarse azurophilic granules
*Intrasinusoidal and interstitial infiltration of bone marrow

==Immunophenotype<ref name=":0" />==

<br />

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive||CD16
|-
|Positive||cytoplasmic CD3-epsilon
|-
|Positive (frequent)||weak CD56
|-
|Positive||Cytotoxic markers
(TIA1, granzyme B & granzyme M)
|-
|Positive
|CD94
|-
|Decreased to negative
|CD2, CD7, CD57, CD161
|-
|Negative
|surface CD3
|-
|Restricted or lack of expression
|KIR isoforms (CD158a, b, c)
|-
|Negative
|EBV
|}<br />
==Chromosomal Rearrangements (Gene Fusions)==

Put your text here and/or fill in the table

{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
|-
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
|}

==Characteristic Chromosomal Aberrations / Patterns==

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==Genomic Gain/Loss/LOH==

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{| class="wikitable sortable"
|-
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
|-
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
|}

==Gene Mutations (SNV/INDEL)==

Put your text here and/or fill in the tables

{| class="wikitable sortable"
|-
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence
!Additional information
|-
|STAT3||
* exons 12-21

* encoding the Src homology 2 (SH2) domain
|EXAMPLE Tumor Suppressor||Driver mutation<ref name=":1" />||variable: 9%<ref>{{Cite journal|last=Gasparini|first=Vanessa Rebecca|last2=Binatti|first2=Andrea|last3=Coppe|first3=Alessandro|last4=Teramo|first4=Antonella|last5=Vicenzetto|first5=Cristina|last6=Calabretto|first6=Giulia|last7=Barilà|first7=Gregorio|last8=Barizza|first8=Annica|last9=Giussani|first9=Edoardo|date=04 22, 2020|title=A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells|url=https://pubmed.ncbi.nlm.nih.gov/32321919|journal=Blood Cancer Journal|volume=10|issue=4|pages=42|doi=10.1038/s41408-020-0309-2|issn=2044-5385|pmc=7176632|pmid=32321919}}</ref> to 30%<ref>{{Cite journal|last=Jerez|first=Andres|last2=Clemente|first2=Michael J.|last3=Makishima|first3=Hideki|last4=Koskela|first4=Hanna|last5=Leblanc|first5=Francis|last6=Peng Ng|first6=Kwok|last7=Olson|first7=Thomas|last8=Przychodzen|first8=Bartlomiej|last9=Afable|first9=Manuel|date=2012-10-11|title=STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22859607|journal=Blood|volume=120|issue=15|pages=3048–3057|doi=10.1182/blood-2012-06-435297|issn=1528-0020|pmc=3471515|pmid=22859607}}</ref>
|
|-
|STAT5b<ref name=":1">{{Cite journal|last=Rajala|first=Hanna L. M.|last2=Eldfors|first2=Samuli|last3=Kuusanmäki|first3=Heikki|last4=van Adrichem|first4=Arjan J.|last5=Olson|first5=Thomas|last6=Lagström|first6=Sonja|last7=Andersson|first7=Emma I.|last8=Jerez|first8=Andres|last9=Clemente|first9=Michael J.|date=2013-05-30|title=Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/23596048|journal=Blood|volume=121|issue=22|pages=4541–4550|doi=10.1182/blood-2012-12-474577|issn=1528-0020|pmc=3668487|pmid=23596048}}</ref>
|
* Exon 16

* Missense N642H mutation in the SH2 domain<ref name=":1" />
|
|Driver mutation<ref name=":1" />
|1 patient<ref name=":1" />
|
*Progressed to aggressive disease<ref name=":1" />
|}

===Other Mutations===
{| class="wikitable sortable"
|-
!Type!!Gene/Region/Other
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
|-
|Secondary Mutations||EXAMPLE Trisomy 7
|-
|Mutually Exclusive||EXAMPLE EGFR Amplification
|}

==Epigenomics (Methylation)==

Put your text here

==Genes and Main Pathways Involved==

* Most patients carry heavy mutational burden
*

==Diagnostic Testing Methods==

Put your text here

==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==

* Presence of STAT mutations could imply therapeutic targets

==Familial Forms==

Put your text here

==Other Information==

Put your text here

==Links==

Put your links here (use "Link" icon at top of page)

==References==
(use "Cite" icon at top of page)
<references />
===EXAMPLE Book===

#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, 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, p129-171.

==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

HAEM4Backup:Chronic Lymphoproliferative Disorder of NK Cells - Revision history

Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Michelle Don, MD __TOC__ ==Cancer Category/Type== Lymphoproliferative disorder (provisional entity)Villamor N,..."

Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Michelle Don, MD TOC ==Cancer Category/Type== Lymphoproliferative disorder (provisional entity)Villamor N,..."