Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

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{{DISPLAYTITLE:T-prolymphocytic leukaemia}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
==Primary Author(s)*==
==Primary Author(s)*==
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{| class="wikitable"
{| class="wikitable"
|+
|Acceptable
|Acceptable
|N/A
|N/A
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|Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome
|Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome
|}
|}
<br />
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
Approximately 70-80% of T-PLL karyotypes are complex, which is considered minor diagnostic criteria, and usually include 3-5 or more structural aberrations. Common cytogenetic abnormalities include those of chromosome 8, such as idic(8)(p11.2), t(8;8)(p11.2;q12), and trisomy 8q. Other frequent changes are deletions in 12p13 and 22q, gains in 8q24 (MYC), and abnormalities in chromosomes 5p, 6, and 17.<ref name=":5">Elenitoba-Johnson K, et al. T-prolymphocytic leukemia. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2024 [cited 2024 June 12]. (WHO classification of tumors series, 5th ed.; vol. 11). Available from: https://tumourclassification.iarc.who.int/chaptercontent/63/209</ref>
Approximately 70-80% of T-PLL karyotypes are complex, which is considered minor diagnostic criteria, and usually include 3-5 or more structural aberrations. Common cytogenetic abnormalities include those of chromosome 8, such as idic(8)(p11.2), t(8;8)(p11.2;q12), and trisomy 8q. Other frequent changes are deletions in 12p13 and 22q, gains in 8q24 (MYC), and abnormalities in chromosomes 5p, 6, and 17.<ref name=":5">Elenitoba-Johnson K, et al. T-prolymphocytic leukemia. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2024 [cited 2024 June 12]. (WHO classification of tumors series, 5th ed.; vol. 11). Available from: https://tumourclassification.iarc.who.int/chaptercontent/63/209</ref>
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|Minor diagnostic criteria.<ref name=":6" />
|Minor diagnostic criteria.<ref name=":6" />
|}
|}
<br />
==Diagnostic criteria==
==Diagnostic criteria==
Diagnosis requires either <u>all three major criteria</u> '''or''' the <u>first two major criteria along with one minor criterion</u>:<ref name=":5" />
Diagnosis requires either <u>all three major criteria</u> '''or''' the <u>first two major criteria along with one minor criterion</u>:<ref name=":5" />
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==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
The most common chromosomal abnormality in T-PLL involves an inversion of chromosome 14, with breakpoints at q11.2 and q32.1, observed in about 60-80% of patients and described as inv(14). Additionally, in 10-20% of cases, there is a translocation t(14;14)(q11.2;q32.1).<ref name=":5" /> <ref name=":7" />[[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)|alt=]]
The most common chromosomal abnormality in T-PLL involves an inversion of chromosome 14, with breakpoints at q11.2 and q32.1, observed in about 60-80% of patients and described as inv(14). Additionally, in 10-20% of cases, there is a translocation t(14;14)(q11.2;q32.1).<ref name=":5" /> <ref name=":7" />[[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)|alt=|center]]
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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|No
|No
|Minor diagnostic criteria, the most frequent cooperating lesion <ref name=":6" />
|Minor diagnostic criteria, the most frequent cooperating lesion <ref name=":6" />
|}<br />
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
Although gene mutations beyond ''TCL1'' family alterations are not yet recognized as diagnostic criteria and remain under investigation for T-PLL, the mutational landscape of T-PLL provides valuable insights. These discoveries open up potential avenues for novel targeted therapies in treating this aggressive form of leukemia.
Although gene mutations beyond ''TCL1'' family alterations are not yet recognized as diagnostic criteria and remain under investigation for T-PLL, the mutational landscape of T-PLL provides valuable insights. These discoveries open up potential avenues for novel targeted therapies in treating this aggressive form of leukemia.
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|Mutation/deletion, loss of heterozygosity, or biallelic mutation
|Mutation/deletion, loss of heterozygosity, or biallelic mutation
|Tumor Suppressor Gene
|Tumor Suppressor Gene
|Common  
|Common
|D, P, T
|D, P, T
|No
|No
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|''FBXW10''
|''FBXW10''
<br />
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Loss-of-function
|Tumor Supressor Gene
|Tumor Supressor Gene
|Common  
|Common
|Unknown
|Unknown
|No
|No
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|-
|-
|''IL2RG,'' ''JAK1, JAK3, STAT5B''
|''IL2RG,'' ''JAK1, JAK3, STAT5B''
|Activating mutations
|Variable activating mutations
|Oncogene
|Oncogene
|Variable based on gene; Recurrent to Common  
|Variable based on gene; Recurrent to Common
|D, P, T
|D, P, T
|No
|No
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|-
|-
|''BCOR''
|''BCOR''
|
|Loss-of-function
|Tumor Supressor Gene
|Tumor Supressor Gene
|Rare
|Rare
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|-
|-
|''SAMHD1''
|''SAMHD1''
|
|Loss-of-function
|Tumor Supressor Gene
|Tumor Supressor Gene
|Recurrent
|Recurrent
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|-
|-
|''CHEK2''
|''CHEK2''
|
|Loss-of-function
|Tumor Supressor Gene
|Tumor Supressor Gene
|Rare
|Rare
|Unknown
|Unknown
|No  
|No
|''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref>
|''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref>
|-
|-
|''TP53''
|''TP53''
|
|Variable inactivating/loss of function mutations
|Tumor Supressor Gene
|Tumor Supressor Gene
|Rare
|Rare
|P (may portend resistance to therapy)  
|P (may portend resistance to therapy)
|No
|No
|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" />
|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" />
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==Links==
==Links==
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
See references.
==References==
==References==
<references />
<references />
==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>''Citation of this Page'': Tizro P, Eno C, Kitahara S.“T-prolymphocytici leukemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 01/6/2026, <nowiki>https://ccga.io/index.php/HAEM5:T-prolymphocytic_leukaemia</nowiki>.
 
 
 
 
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''Associate Editor'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.


Prior Author(s): N/A
[[Category:HAEM5]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:DISEASE]]
[[Category:Diseases T]]
[[Category:Diseases T]]
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