Compendium of Cancer Genome Aberrations

HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::HLF fusion: Difference between revisions

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{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with TCF3::HLF fusion}}
PAX5{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with TCF3::HLF fusion}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
Deletions of PAX5, BTG1, and VPREB1 have been observed in TCF3::HLF-positive B-ALL. Of the 13 reported cases<ref>{{Cite journal|last=Ma|first=Xiaotu|last2=Edmonson|first2=Michael|last3=Yergeau|first3=Donald|last4=Muzny|first4=Donna M.|last5=Hampton|first5=Oliver A.|last6=Rusch|first6=Michael|last7=Song|first7=Guangchun|last8=Easton|first8=John|last9=Harvey|first9=Richard C.|date=2015-03-19|title=Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/25790293|journal=Nature Communications|volume=6|pages=6604|doi=10.1038/ncomms7604|issn=2041-1723|pmc=4377644|pmid=25790293}}</ref><ref>{{Cite journal|last=Fischer|first=Ute|last2=Forster|first2=Michael|last3=Rinaldi|first3=Anna|last4=Risch|first4=Thomas|last5=Sungalee|first5=Stéphanie|last6=Warnatz|first6=Hans-Jörg|last7=Bornhauser|first7=Beat|last8=Gombert|first8=Michael|last9=Kratsch|first9=Christina|date=2015-09|title=Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options|url=https://pubmed.ncbi.nlm.nih.gov/26214592|journal=Nature Genetics|volume=47|issue=9|pages=1020–1029|doi=10.1038/ng.3362|issn=1546-1718|pmc=4603357|pmid=26214592}}</ref>, 8 showed deletions of PAX5. The remaining cases had deletions of BTG1, VPREB1, or both, but not PAX5, indicating deletions of PAX5 are mutually exclusive from deletions of BTG1 and VPREB1. CDKN2A/B deletions have been observed in 3 cases.
 
<span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|9
7
|Loss
|<span class="blue-text">EXAMPLE:</span> Loss
|9p21.3
|<span class="blue-text">EXAMPLE:</span>
|CDKN2A/B
chr7
|
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|Common recurrent finding in various cancers
|<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>
|9
8
|Loss
|<span class="blue-text">EXAMPLE:</span> Gain
|9p13
|<span class="blue-text">EXAMPLE:</span>
|PAX5
chr8
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|
|<span class="blue-text">EXAMPLE:</span>
|No
Common recurrent secondary finding for t(8;21) (add references).
|Common recurrent finding in B-ALL
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|12
17
|Loss
|<span class="blue-text">EXAMPLE:</span> Amp
|12q21.33
|<span class="blue-text">EXAMPLE:</span>
|''BTG1''
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
''ERBB2''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|
|<span class="blue-text">EXAMPLE:</span>
|No
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|Common recurrent finding in B-ALL
|-
|-
|22
|Loss
|22q11.2
|VPREB1
|
|
|
|No
|
|Common recurrent finding in B-ALL
|
|
|
|
|}
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
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