Compendium of Cancer Genome Aberrations

HAEM5:Hepatosplenic T-cell lymphoma: Difference between revisions

[checked revision][unchecked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
Line 68: Line 68:
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|7
7
|Gain
|<span class="blue-text">EXAMPLE:</span> Loss
|7q, chr7
|<span class="blue-text">EXAMPLE:</span>
|Unknown
chr7
|D, P
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|Considered a primary aberration<ref name=":2" />, seen in 40-70% of cases<ref name=":1" />
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
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).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|8
8
|Gain (trisomy)
|<span class="blue-text">EXAMPLE:</span> Gain
|Chr8
|<span class="blue-text">EXAMPLE:</span>
|Unknown
chr8
|D, P
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|Considered a secondary aberration<ref name=":2" />, seen in 10-50% of cases<ref name=":1" />
|<span class="blue-text">EXAMPLE:</span> D, P
|-
|
|Y
|<span class="blue-text">EXAMPLE:</span>
|Loss
Common recurrent secondary finding for t(8;21) (add references).
|ChrY
|Unknown
|Unknown
|No
|Seen in 20-25% of cases<ref name=":1" />
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|10
17
|Loss
|<span class="blue-text">EXAMPLE:</span> Amp
|10q, chr10
|<span class="blue-text">EXAMPLE:</span>
|Unknown
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|P
|<span class="blue-text">EXAMPLE:</span>
|No
''ERBB2''
|Seen in 10-20% of cases<ref name=":1" />
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|-
|-
|
|1
|
|Gain
|
|1q, chr1
|
|Unknown
|
|P
|
|No
|
|Seen in 10-15% of cases<ref name=":1" />
|}
|}


Line 154: Line 150:
|Chr10
|Chr10
|No
|No
|No
|Yes
|No
|No
|Seen in 10-20% of cases<ref name=":1" />
|Seen in 10-20% of cases<ref name=":1" />
Line 163: Line 159:
|Chr1
|Chr1
|No
|No
|No
|Yes
|No
|No
|Seen in 10-15% of cases<ref name=":1" />
|Seen in 10-15% of cases<ref name=":1" />
Line 179: Line 175:
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Isochromosome 7q<ref name=":8" /> and chromosome 7 imbalances including ring chromosome 7.
Co-deletion of 1p and 18q
Can be seen in conjunction with trisomy 8
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|Cases with chromosome 7 abnormalities show:
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
*Constant loss of 7p22.1p14.1 (34.88 Mb; 3506316-38406226 bp)<ref name=":3" />
|<span class="blue-text">EXAMPLE:</span> D, P
 
|
*Gain of 7q22.11q31.1 (38.77 Mb; 86259620–124892276 bp)<ref name=":3" />
|
|Common
|D, P
|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" />
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Loss of chromosome 10q
Microsatellite instability - hypermutated
Gain of chromosome 1q
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
|
|
|-
|
|
|
|
|
|
|
|Recurrent
|P
|No
|occur in a significant minority of HSTL cases<ref name=":4" />
|}
|}


Line 213: Line 211:
!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.
|Isochromosome 7q<ref name=":8">{{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:


Line 225: Line 223:
|No
|No
|See table under "Genomic Gain/Loss/LOH"
|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" />
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" />
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" />
Line 250: Line 249:
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|''STAT3''; missense mutation
|missense mutation
|Oncogenic driver mutation
|Recurrent
|T
|No
|Also seen in 40% of T-large granular lymphocyte leukemia<ref name=":2" />
|-
|''STAT5b''; missense mutation
|missense mutation
|Oncogenic driver mutation
|Common
|D, T
|No
|Highest functional potency: ''STAT5B'' N642H and V712E mutations<ref name=":2" />


<br />
 
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
One study showed increased CD56 expression with ''STAT5b''<ref name=":9" />
|<span class="blue-text">EXAMPLE:</span> Oncogene
 
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
 
|<span class="blue-text">EXAMPLE:</span> T
Also seen in ~2% of T-large granular lymphocyte leukemia<ref name=":2" />
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> 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).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|''PIK3CD''
<br />
|Activating mutations
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Activate signaling
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
pathways important to cell survival<ref name=":4" />
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|Recurrent
|<span class="blue-text">EXAMPLE:</span> P
|T
|No
|
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|''SETD2''; biallelic LOF
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|biallelic LOF
|<span class="blue-text">EXAMPLE:</span> Oncogene
|Tumor suppressor gene, chromatin modifier*<ref name=":4" />
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|Common
|<span class="blue-text">EXAMPLE:</span> T
|D, T
|No
|''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''
|
|
|Chromatin modifier*
|Common
|D, P, T
|No
|
|
|-
|-
|''ARID1B''
|
|
|Chromatin modifier*
|Recurrent
|Unknown
|No
|
|
|-
|''TET3''
|
|
|Chromatin modifier*
|Recurrent
|D, T
|No
|
|
|-
|''SMARCA2''
|
|
|
|Chromatin modifier*
|Recurrent
|Unknown
|No
|
|
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Line 315: Line 356:




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 name=":9">{{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>




Retrieved from "https://test.ccga.io/index.php/HAEM5:Hepatosplenic_T-cell_lymphoma"