Compendium of Cancer Genome Aberrations

HAEM5:NK-large granular lymphocytic leukaemia: Difference between revisions

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|Subtype(s)
|Subtype(s)
|NK-large granular lymphocytic leukaemia
|NK-large granular lymphocytic leukaemia
|}
==Definition / Description of Disease==
A neoplasm characterized by a persistent (>6 months) increase in peripheral NK cells (> 2 x 10^9/L) and a chronic indolent clinical course. Additional essential diagnostic criteria include flow cytometric evidence of peripheral blood or bone marrow involvement by a uniform population of sCD3(-), CD16(+) NK cells and demonstration of a restricted pattern of KIR expression.
The differential diagnosis includes other mature T-cell neoplasms with a leukemic presentation. T-cell large granular lymphocytic leukemia is a disorder with clinical and pathological overlap; NK-LGL cannot be distinguished from T-LGL by cytological features. If there is prominent lymphocytosis, an aggressive NK-cell leukemia can be considered and NK-LGL is distinguished by an indolent clinical presentation and lack of nuclear EBV positivity. <ref name=":0" />
==Synonyms / Terminology==
*Chronic lymphoproliferative disorder of NK cells
*Chronic NK-large granular lymphocyte lymphoproliferative disorder
*Chronic NK-cell lymphocytosis (historical)
*Indolent leukemia of NK cells (historical) <ref name=":0" />
==Epidemiology / Prevalence==
*Median age: 60 years
*Does not show sex, racial, geographical, or genetic predisposition <ref name=":0" />
==Clinical Features==
{| class="wikitable"
|'''Signs and Symptoms'''
|Asymptomatic (incidental finding on complete blood counts)
May occur in association with autoimmune disorders, solid tumors, hematological neoplasms, and neuropathy
Uncommon/atypical: splenomegaly, hepatomegaly, lymphadenopathy, skin involvement <ref name=":0" />
|-
|'''Laboratory Findings'''
|Lymphocytosis, variable neutropenia and/or anemia <ref name=":0" />
|}
==Sites of Involvement==
*Peripheral blood and bone marrow
*Uncommon: spleen <ref name=":0" />
==Morphologic Features==
*NK-cells are typically intermediate to large in size with small, round nuclei and moderate cytoplasm with fine or coarse azurophilic granules.
*Intrasinusoidal and sometimes interstitial infiltration of bone marrow and possibly spleen. <ref name=":0" />
==Immunophenotype <ref name=":0" />==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive||CD16
|-
|Positive||cytoplasmic CD3-epsilon
|-
|Positive (frequent)||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
|}
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
==WHO Essential and Desirable Genetic Diagnostic Criteria==
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This disease is <u>defined/characterized</u> as detailed below:
This disease is <u>defined/characterized</u> as detailed below:


* A neoplasm characterized by a persistent (>6 months) increase in peripheral NK cells (> 2 x 10^9/L) and a chronic indolent clinical course. Additional essential diagnostic criteria include flow cytometric evidence of peripheral blood or bone marrow involvement by a uniform population of sCD3(-), CD16(+) NK cells and demonstration of a restricted pattern of KIR expression.
* The differential diagnosis includes other mature T-cell neoplasms with a leukemic presentation. T-cell large granular lymphocytic leukemia is a disorder with clinical and pathological overlap; NK-LGL cannot be distinguished from T-LGL by cytological features. If there is prominent lymphocytosis, an aggressive NK-cell leukemia can be considered and NK-LGL is distinguished by an indolent clinical presentation and lack of nuclear EBV positivity.<ref name=":0" />


The <u>epidemiology/prevalence</u> of this disease is detailed below:
The <u>epidemiology/prevalence</u> of this disease is detailed below:


*Median age: 60 years
*Does not show sex, racial, geographical, or genetic predisposition<ref name=":0" />


The <u>clinical features</u> of this disease are detailed below:
The <u>clinical features</u> of this disease are detailed below:


Signs and symptoms -
* Signs and symptoms - Asymptomatic (incidental finding on complete blood counts); May occur in association with autoimmune disorders, solid tumors, hematological neoplasms, and neuropathy; Uncommon/atypical: splenomegaly, hepatomegaly, lymphadenopathy, skin involvement<ref name=":0" />
* Laboratory findings - Lymphocytosis, variable neutropenia and/or anemia<ref name=":0" />


Laboratory findings -
The <u>sites of involvement</u> of this disease are detailed below:


The <u>sites of involvement</u> of this disease are detailed below:
*Peripheral blood and bone marrow


*Uncommon: spleen<ref name=":0" />


The <u>morphologic features</u> of this disease are detailed below:
The <u>morphologic features</u> of this disease are detailed below:


*NK-cells are typically intermediate to large in size with small, round nuclei and moderate cytoplasm with fine or coarse azurophilic granules.
*Intrasinusoidal and sometimes interstitial infiltration of bone marrow and possibly spleen.<ref name=":0" />


The <u>immunophenotype</u> of this disease is detailed below:
The <u>immunophenotype</u> of this disease is detailed below:


Positive (universal) -
Positive - CD16, cytoplasmic CD3-epsilon, Cytotoxic markers (TIA1, granzyme B & granzyme M), CD94


Positive (majority) -
Positive (frequent) - CD56


Positive (subset) -
Decreased to negative - CD2, CD7, CD57, CD161


Negative (universal) -
Restricted or lack of expression - KIR isoforms (CD158a, b, c)


Negative (subset) –
Negative - surface CD3, EBV


==Links==
==Links==
Retrieved from "https://test.ccga.io/index.php/HAEM5:NK-large_granular_lymphocytic_leukaemia"