HAEM5:Hepatosplenic T-cell lymphoma: Difference between revisions
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|Gain | |Gain | ||
| | | | ||
| | |Constant loss of 7p22.1p14.1 | ||
Gain of 7q22.11q31.1 | |||
|Yes | |Yes | ||
|Yes | |Yes | ||
|No | |No | ||
|Considered a primary aberration<ref name=":2" /> | |Considered a primary aberration<ref name=":2" />, seen in 40-70% of cases<ref name=":1" /> | ||
|- | |- | ||
|8 | |8 | ||
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|Yes | |Yes | ||
|No | |No | ||
|Considered a secondary aberration<ref name=":2" /> | |Considered a secondary aberration<ref name=":2" />, seen in 10-50% of cases<ref name=":1" /> | ||
|- | |- | ||
|Y | |Y | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |Isochromosome 7q<ref>{{Cite journal|last=Wlodarska|first=Iwona|last2=Martin-Garcia|first2=Nadine|last3=Achten|first3=Ruth|last4=De Wolf-Peeters|first4=Chris|last5=Pauwels|first5=Patrick|last6=Tulliez|first6=Micheline|last7=de Mascarel|first7=Antoine|last8=Brière|first8=Josette|last9=Patey|first9=Martine|date=2002-03|title=Fluorescence in situ hybridization study of chromosome 7 aberrations in hepatosplenic T-cell lymphoma: isochromosome 7q as a common abnormality accumulating in forms with features of cytologic progression|url=https://pubmed.ncbi.nlm.nih.gov/11807981|journal=Genes, Chromosomes & Cancer|volume=33|issue=3|pages=243–251|doi=10.1002/gcc.10021|issn=1045-2257|pmid=11807981}}</ref> and chromosome 7 imbalances including ring chromosome 7. | ||
Cases with chromosome 7 abnormalities show: | Cases with chromosome 7 abnormalities show: | ||
*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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|Yes | |Yes | ||
|No | |No | ||
| | |See table under "Genomic Gain/Loss/LOH" | ||
Co-occurrence of Isochromosome 7q and trisomy 8 can be seen in 8-53% of cases<ref name=":2" /> | |||
Cases without diagnostic detection of i(7q) or trisomy 8, often have detection of these abnormalities at the time of relapse or disease progression<ref name=":2" /> | |||
|- | |- | ||
|Loss of chromosome 10q | |Loss of chromosome 10q | ||
Gain of chromosome 1q | |||
|No | |No | ||
|Yes | |Yes | ||
|No | |No | ||
| | |occur in a significant minority of HSTL cases<ref name=":4" /> | ||
|}<br /> | |}<br /> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
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!Notes | !Notes | ||
|- | |- | ||
|STAT3; | |STAT3; missense mutation | ||
|Oncogenic driver mutation | |Oncogenic driver mutation | ||
|9% | |9% | ||
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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; | |STAT5b; missense mutation | ||
|Oncogenic driver mutation | |Oncogenic driver mutation | ||
|31% | |31% | ||
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|No | |No | ||
|Yes | |Yes | ||
| | |Highest functional potency: ''STAT5B'' N642H and V712E mutations<ref name=":2" /> | ||
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" /> | |||
|- | |- | ||
|PIK3CD | |PIK3CD | ||
|Activate signaling | |Activate signaling | ||
pathways important to | pathways important to cell survival<ref name=":4" /> | ||
|9% | |9% | ||
| | | | ||
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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 | ||
Most frequently silenced gene and most frequent mutated chromatin modifier in HSTL<ref name=":4" /> | |||
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 | ||
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|} | |} | ||
<nowiki>*</nowiki>Chromatin modifiers make up the most commonly mutated genes in HSTL <ref name=":4" /> | <nowiki>*</nowiki>Chromatin modifiers make up the most commonly mutated genes in HSTL, detected in 62% of cases. <ref name=":4" /> | ||
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external conten | Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external conten | ||