Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

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==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


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|No
|No
|No
|No
|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. This is due to their role in overexpressing oncogenes like ''TCL1A''. '''Major diagnostic criteria'''.<ref name=":6" />
|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. This is due to their role in overexpressing oncogenes like ''TCL1A''. Major diagnostic criteria.<ref name=":6" />
|-
|-
|t(X;14)(q28;q11.2)
|t(X;14)(q28;q11.2)
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|No
|No
|No
|No
|'''Major diagnostic criteria'''.<ref name=":6" />
|Major diagnostic criteria.<ref name=":6" />
|}
|}


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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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|No
|No
|No
|No
|Recurrent secondary finding (70-80% of cases). '''Minor diagnostic criteria'''.<ref name=":6">{{Cite journal|last=Staber|first=Philipp B.|last2=Herling|first2=Marco|last3=Bellido|first3=Mar|last4=Jacobsen|first4=Eric D.|last5=Davids|first5=Matthew S.|last6=Kadia|first6=Tapan Mahendra|last7=Shustov|first7=Andrei|last8=Tournilhac|first8=Olivier|last9=Bachy|first9=Emmanuel|date=2019-10-03|title=Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/31292114|journal=Blood|volume=134|issue=14|pages=1132–1143|doi=10.1182/blood.2019000402|issn=1528-0020|pmc=7042666|pmid=31292114}}</ref>
|Recurrent secondary finding (70-80% of cases). Minor diagnostic criteria.<ref name=":6">{{Cite journal|last=Staber|first=Philipp B.|last2=Herling|first2=Marco|last3=Bellido|first3=Mar|last4=Jacobsen|first4=Eric D.|last5=Davids|first5=Matthew S.|last6=Kadia|first6=Tapan Mahendra|last7=Shustov|first7=Andrei|last8=Tournilhac|first8=Olivier|last9=Bachy|first9=Emmanuel|date=2019-10-03|title=Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/31292114|journal=Blood|volume=134|issue=14|pages=1132–1143|doi=10.1182/blood.2019000402|issn=1528-0020|pmc=7042666|pmid=31292114}}</ref>
|-
|-
|5
|5
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|Yes
|Yes
|No
|No
|'''Minor diagnostic criteria'''.<ref name=":6" />
|Minor diagnostic criteria.<ref name=":6" />
|-
|-
|6
|6
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|Yes
|Yes
|Yes (poor)
|Yes (poor)
|Frequent, '''Minor diagnostic criteria'''.<ref name=":6" />
|Frequent, Minor diagnostic criteria.<ref name=":6" />
|-
|-
|12
|12
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|No
|No
|Haploinsufficiency of the ''CDKN1B'' gene at the 12p13 locus contributes to the development of T-PLL.<ref>{{Cite journal|last=Le Toriellec|first=Emilie|last2=Despouy|first2=Gilles|last3=Pierron|first3=Gaëlle|last4=Gaye|first4=Nogaye|last5=Joiner|first5=Marjorie|last6=Bellanger|first6=Dorine|last7=Vincent-Salomon|first7=Anne|last8=Stern|first8=Marc-Henri|date=2008-02-15|title=Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18073348|journal=Blood|volume=111|issue=4|pages=2321–2328|doi=10.1182/blood-2007-06-095570|issn=0006-4971|pmid=18073348}}</ref>
|Haploinsufficiency of the ''CDKN1B'' gene at the 12p13 locus contributes to the development of T-PLL.<ref>{{Cite journal|last=Le Toriellec|first=Emilie|last2=Despouy|first2=Gilles|last3=Pierron|first3=Gaëlle|last4=Gaye|first4=Nogaye|last5=Joiner|first5=Marjorie|last6=Bellanger|first6=Dorine|last7=Vincent-Salomon|first7=Anne|last8=Stern|first8=Marc-Henri|date=2008-02-15|title=Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18073348|journal=Blood|volume=111|issue=4|pages=2321–2328|doi=10.1182/blood-2007-06-095570|issn=0006-4971|pmid=18073348}}</ref>
'''Minor diagnostic criteria'''.<ref name=":6" />
Minor diagnostic criteria.<ref name=":6" />
|-
|-
|13
|13
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|No
|No
|No
|No
|'''Minor diagnostic criteria'''.<ref name=":6" />
|Minor diagnostic criteria.<ref name=":6" />
|-
|-
|17
|17
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|No
|No
|Leading to the dysregulation of genes such as ''BCL11B'', which is crucial in T-cell development and function.<ref name=":0" />
|Leading to the dysregulation of genes such as ''BCL11B'', which is crucial in T-cell development and function.<ref name=":0" />
'''Minor diagnostic criteria'''.<ref name=":6" />
Minor diagnostic criteria.<ref name=":6" />
|}
|}


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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC /  TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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