Changes

|Yes

|Yes

|Yes

|Yes

|Yes

|Yes (although not established as a therapeutic marker, it associated with poor response to conventional chemotherapy)

|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" />

|-

|-

|Yes

|Yes

|No

|No

|Yes

|Yes (although not established as a therapeutic marker, it associated with poor response to conventional chemotherapy)

|'''Major diagnostic criteria'''.<ref name=":6" />

|'''Major diagnostic criteria'''.<ref name=":6" />

|}

|}

|6

|6

|Abnormality

|Abnormality

|gain of 6p, loss of 6q <ref>{{Cite journal|last=Dearden|first=Claire|date=2012-07-19|title=How I treat prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22649104|journal=Blood|volume=120|issue=3|pages=538–551|doi=10.1182/blood-2012-01-380139|issn=1528-0020|pmid=22649104}}</ref>

|gain of 6p, loss of 6q <ref>{{Cite journal|last=Dearden|first=Claire|date=2012-07-19|title=How I treat prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22649104|journal=Blood|volume=120|issue=3|pages=538–551|doi=10.1182/blood-2012-01-380139|issn=1528-0020|pmid=22649104}}</ref><ref>{{Cite journal|last=Soulier|first=J.|last2=Pierron|first2=G.|last3=Vecchione|first3=D.|last4=Garand|first4=R.|last5=Brizard|first5=F.|last6=Sigaux|first6=F.|last7=Stern|first7=M. H.|last8=Aurias|first8=A.|date=2001-07|title=A complex pattern of recurrent chromosomal losses and gains in T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11391795|journal=Genes, Chromosomes & Cancer|volume=31|issue=3|pages=248–254|doi=10.1002/gcc.1141|issn=1045-2257|pmid=11391795}}</ref>

|

|

|No

|No

|-

|-

|17

|17

|Abnormality

|Loss

|17p, 17q

|17p

|17p13

|17p13

|No

|No

|Yes

|Yes

|Yes (resistance to therapy)

|Yes (resistance to therapy)

|The TP53 gene is deleted (at 17p13.1), with overexpression of p53, in some cases. <ref name=":7" />

|May include TP53 gene at 17p13.1. <ref name=":7" />

|-

|-

|22

|22

**Involvement of specific sites (spleen, effusions)

**Involvement of specific sites (spleen, effusions)

== Characteristic Chromosomal Patterns ==

==Characteristic Chromosomal Patterns==

[[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)]]

[[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)]]

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" />

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" />

|Yes

|Yes

|See note

|See note

|EZH2 inhibitors like tazemetostat have shown efficacy in other hematologic malignancies, providing a rationale for their potential use in T-PLL

|''EZH2'' inhibitors like tazemetostat have shown efficacy in other hematologic malignancies, providing a rationale for their potential use in T-PLL

|-

|-

|''BCOR''

|''BCOR''

|Yes

|Yes

|Associated with resistance to therapy

|Associated with resistance to therapy

|Mutations in TP53 are less frequent than deletions.<ref name=":9" />

|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" />

|}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 content.

|}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 content.

==Epigenomic Alterations==

==Epigenomic Alterations==