Compendium of Cancer Genome Aberrations

HAEM5:Hepatosplenic T-cell lymphoma: Difference between revisions

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*Constant loss of 7p22.1p14.1 (34.88 Mb; 3506316-38406226 bp)<ref name=":3">{{Cite journal|last=Finalet Ferreiro|first=Julio|last2=Rouhigharabaei|first2=Leila|last3=Urbankova|first3=Helena|last4=van der Krogt|first4=Jo-Anne|last5=Michaux|first5=Lucienne|last6=Shetty|first6=Shashirekha|last7=Krenacs|first7=Laszlo|last8=Tousseyn|first8=Thomas|last9=De Paepe|first9=Pascale|date=2014|title=Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/25057852|journal=PloS One|volume=9|issue=7|pages=e102977|doi=10.1371/journal.pone.0102977|issn=1932-6203|pmc=4109958|pmid=25057852}}</ref>
*Constant loss of 7p22.1p14.1 (34.88 Mb; 3506316-38406226 bp)<ref name=":3">{{Cite journal|last=Finalet Ferreiro|first=Julio|last2=Rouhigharabaei|first2=Leila|last3=Urbankova|first3=Helena|last4=van der Krogt|first4=Jo-Anne|last5=Michaux|first5=Lucienne|last6=Shetty|first6=Shashirekha|last7=Krenacs|first7=Laszlo|last8=Tousseyn|first8=Thomas|last9=De Paepe|first9=Pascale|date=2014|title=Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/25057852|journal=PloS One|volume=9|issue=7|pages=e102977|doi=10.1371/journal.pone.0102977|issn=1932-6203|pmc=4109958|pmid=25057852}}</ref>


*Gain of 7q22.11q31.1 (38.77 Mb; 86259620–124892276 bp)<ref name=":3" />  
*Gain of 7q22.11q31.1 (38.77 Mb; 86259620–124892276 bp)<ref name=":3" />


Can be seen in conjunction with trisomy 8
Can be seen in conjunction with trisomy 8
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!Notes
!Notes
|-
|-
|STAT3; missense mutation
|''STAT3''; missense mutation
|Oncogenic driver mutation
|Oncogenic driver mutation
|9%
|9%
|
|
|STAT5b; Only 1 reported case with both mutations present<ref name=":4" />
|''STAT5b''; Only 1 reported case with both mutations present<ref name=":4" />
|No
|No
|No
|No
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|Also seen in 40% of T-large granular lymphocyte leukemia<ref name=":2" />
|Also seen in 40% of T-large granular lymphocyte leukemia<ref name=":2" />
|-
|-
|STAT5b; missense mutation
|''STAT5b''; missense mutation
|Oncogenic driver mutation
|Oncogenic driver mutation
|31%
|31%
|
|
|STAT3; Only 1 reported case with both mutations present<ref name=":4" />
|''STAT3''; Only 1 reported case with both mutations present<ref name=":4" />
|Yes<ref name=":4" /><ref>{{Cite journal|last=Desmares|first=Anne|last2=Bouzy|first2=Simon|last3=Thonier|first3=Florian|last4=Goustille|first4=Julien|last5=Llamas-Gutierrez|first5=Francisco|last6=Genevieve|first6=Franck|last7=Cottin|first7=Laurane|last8=Baseggio|first8=Lucile|last9=Lemaire|first9=Pierre|date=2024-01-25|title=Hepatosplenic T-cell lymphoma displays an original oyster-shell cytological pattern and a distinct genomic profile from that of gamma-delta T-cell large granular lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/38268478|journal=Haematologica|doi=10.3324/haematol.2023.283856|issn=1592-8721|pmid=38268478}}</ref>
|Yes<ref name=":4" /><ref>{{Cite journal|last=Desmares|first=Anne|last2=Bouzy|first2=Simon|last3=Thonier|first3=Florian|last4=Goustille|first4=Julien|last5=Llamas-Gutierrez|first5=Francisco|last6=Genevieve|first6=Franck|last7=Cottin|first7=Laurane|last8=Baseggio|first8=Lucile|last9=Lemaire|first9=Pierre|date=2024-01-25|title=Hepatosplenic T-cell lymphoma displays an original oyster-shell cytological pattern and a distinct genomic profile from that of gamma-delta T-cell large granular lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/38268478|journal=Haematologica|doi=10.3324/haematol.2023.283856|issn=1592-8721|pmid=38268478}}</ref>
|No
|No
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One study showed increased CD56 expression with STAT5b<ref>{{Cite journal|last=Nicolae|first=A.|last2=Xi|first2=L.|last3=Pittaluga|first3=S.|last4=Abdullaev|first4=Z.|last5=Pack|first5=S. D.|last6=Chen|first6=J.|last7=Waldmann|first7=T. A.|last8=Jaffe|first8=E. S.|last9=Raffeld|first9=M.|date=2014-11|title=Frequent STAT5B mutations in γδ hepatosplenic T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/24947020|journal=Leukemia|volume=28|issue=11|pages=2244–2248|doi=10.1038/leu.2014.200|issn=1476-5551|pmc=7701980|pmid=24947020}}</ref>
One study showed increased CD56 expression with ''STAT5b''<ref>{{Cite journal|last=Nicolae|first=A.|last2=Xi|first2=L.|last3=Pittaluga|first3=S.|last4=Abdullaev|first4=Z.|last5=Pack|first5=S. D.|last6=Chen|first6=J.|last7=Waldmann|first7=T. A.|last8=Jaffe|first8=E. S.|last9=Raffeld|first9=M.|date=2014-11|title=Frequent STAT5B mutations in γδ hepatosplenic T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/24947020|journal=Leukemia|volume=28|issue=11|pages=2244–2248|doi=10.1038/leu.2014.200|issn=1476-5551|pmc=7701980|pmid=24947020}}</ref>




Also seen in ~2% of T-large granular lymphocyte leukemia<ref name=":2" />
Also seen in ~2% of T-large granular lymphocyte leukemia<ref name=":2" />
|-
|-
|PIK3CD
|''PIK3CD''
|Activate signaling
|Activate signaling
pathways important to cell survival<ref name=":4" />
pathways important to cell survival<ref name=":4" />
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|
|
|-
|-
|SETD2; biallelic LOF
|''SETD2''; biallelic LOF
|Tumor suppressor gene, chromatin modifier*<ref name=":4" />
|Tumor suppressor gene, chromatin modifier*<ref name=":4" />
|25%
|25%
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|No
|No
|Yes
|Yes
|SET2–RPB1 interacting domain (SRI) domain ( 31 ) at the COOH-terminus of the SETD2 protein product
|''SET2–RPB1'' interacting domain (SRI) domain ( 31 ) at the COOH-terminus of the SETD2 protein product




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71% of cases showing at least one LOF mutation<ref name=":4" />, and more than 44% of patients with SETD2 mutations had more than 1 mutation detected<ref name=":2" />
71% of cases showing at least one LOF mutation<ref name=":4" />, and more than 44% of patients with ''SETD2'' mutations had more than 1 mutation detected<ref name=":2" />
|-
|-
|INO80
|''INO80''
|Chromatin modifier*
|Chromatin modifier*
|21%
|21%
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|
|
|-
|-
|ARID1B
|''ARID1B''
|Chromatin modifier*
|Chromatin modifier*
|19%
|19%
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|
|
|-
|-
|TET3
|''TET3''
|Chromatin modifier*
|Chromatin modifier*
|15%
|15%
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|
|
|-
|-
|SMARCA2
|''SMARCA2''
|Chromatin modifier*
|Chromatin modifier*
|10%
|10%
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration<ref name=":5" />!!Pathway<ref name=":5" />!!Pathophysiologic Outcome
!Gene; Genetic Alteration<ref name=":4" /><ref name=":5" />!!Pathway<ref name=":4" /><ref name=":5" />!!Pathophysiologic Outcome<ref name=":4" /><ref name=":5" />
|-
|''STAT, PIK3CD''
|Signaling pathways
|PI-3 kinase and JAK-STAT signaling pathways maintain proliferation and survival within HSTL cells
|-
|''SETD2''
|Tumor suppressor, chromatin modifier
|Reduced SETD2 protein expression and increased proliferation of HSTL cells
|-
|''INO80, ARID1B, TET3, SMARCA2''
|Chromatin modifier
|Disrupted regulation of cell differentiation and proliferation, resulting in development and progression of cancer
|-
|-
|''KIRs'', ''KLR'', ''CD244'', and ''NCAM1'' overexpression
|''KIRs'', ''KLR'', ''CD244'', and ''NCAM1'' overexpression
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|Increased inflammatory response due to enhanced leukocyte endothelial transmigration
|Increased inflammatory response due to enhanced leukocyte endothelial transmigration
|-
|-
|''SPRY2'', ''RHOB'', ''MAP4K3'', and ''SPRY1'' overexpression
|''SPRY2'', ''RHOB*'', ''MAP4K3'', and ''SPRY1'' overexpression
|Signal transduction
|Signal transduction
|Altered cellular growth, differentiation, and migration. Overactive signaling pathways could contribute to oncogenesis
|Altered cellular growth, differentiation, and migration. Overactive signaling pathways could contribute to oncogenesis
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|Distribution and accumulation of neoplastic γδ cells in the spleen and bone marrow
|Distribution and accumulation of neoplastic γδ cells in the spleen and bone marrow
|-
|-
|''SYK*'' overexpression
|''SYK**'' overexpression
|Tyrosine kinase
|Tyrosine kinase
|Cell growth and survival of neoplastic HSTL cells
|Cell growth and survival of neoplastic HSTL cells
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|Reduced inflammatory and immune responses
|Reduced inflammatory and immune responses
|}
|}
''*SyK'' expression was seen one study, which is not typical for normal T-cells<ref name=":5" />
<nowiki>*</nowiki>''RHOA'' mutations predominantly favor Peripheral T-cell lymphomas, not otherwise specified (PTCL-NOS) and angioimmunoblastic T-cell lymphoma (AITL)<ref name=":4" />
 
''**SyK'' expression was seen one study, which is not typical for normal T-cells<ref name=":5" />


*''Syk'' is a protein tyrosine kinase usually involved in B-cell receptor signaling<ref name=":5" />
*''Syk'' is a protein tyrosine kinase usually involved in B-cell receptor signaling<ref name=":5" />
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*FISH targeted isochromosome 7q and trisomy 8
*FISH targeted isochromosome 7q and trisomy 8
*Next generation sequencing to support mutations seen in HSTL including ''STAT3, STAT5B, PI3KCD,'' ''SETD2, INO80, TET3'', and ''STAT5B''<ref name=":5" />  
*Next generation sequencing to support mutations seen in HSTL including ''STAT3, STAT5B, PI3KCD,'' ''SETD2, INO80, TET3'', and ''STAT5B''<ref name=":5" />  
**Presence of RHOA mutation, can potentially exclude HSTL from the differential diagnosis<ref name=":5" />
**Presence of ''RHOA'' mutation, can potentially exclude HSTL from the differential diagnosis<ref name=":5" />


==Familial Forms==
==Familial Forms==
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