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==Definition / Description of Disease==
==Definition / Description of Disease==
T-prolymphocytic leukemia (T-PLL) is a clonal proliferation of small to medium-sized prolymphocytes with a mature post thymic T-cell phenotype characterized by the juxtaposition of TCL1A or MTCP1 to a TR locus, most often the TRA/TRD locus.
T-prolymphocytic leukemia (T-PLL) is an aggressive form of T-cell leukemia marked by the proliferation of small to medium-sized prolymphocytes exhibiting a mature post-thymic T-cell phenotype. This condition is characterized by the juxtaposition of TCL1A or MTCP1 genes to a TR locus, typically the TRA/TRD locus.
==Synonyms / Terminology==
==Synonyms / Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
==Epidemiology / Prevalence==
==Epidemiology / Prevalence==
T-PLL is rare, accounting for approximately 2% of cases of mature lymphoid leukemias in adults aged over 30 years. It predominantly affects the elderly (median age: 65 years, range: 30–94 years) with a slight male predominance (M:F ratio: 1.33:1).
T-PLL is a rare disorder, comprising about 2% of all mature lymphoid leukemia cases in adults. It primarily occurs in the elderly, with a median age of 65 years (ranging from 30 to 94 years), and shows a slight male predominance with a male to female ratio of 1.33:1.
==Clinical Features==
==Clinical Features==
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Marked lymphocytosis > 100 × 10^9/L (75% of cases)
Marked lymphocytosis > 100 × 10^9/L (75% of cases)
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==Sites of Involvement==
==Sites of Involvement==
|Positive (universal)||CD2, CD3 (may be weak), CD5, CD7
|Positive (universal)||CD2, CD3 (may be weak), CD5, CD7
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|Positive (subset)||CD4 (in some cases CD4+/CD8+ or CD4-/CD8+), CD52
|Positive (subset)||CD4 (in some cases CD4+/CD8+ or CD4-/CD8+), CD52
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|Negative (universal)||TdT, CD1a
|Negative (universal)||TdT, CD1a
!Notes
!Notes
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|t(14;14)(q11;q32)||TCL1A/TRD||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|t(14;14)(q11;q32)
|TCL1A/TRD||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
|Yes
|Yes
|MTCP1/TRD
|MTCP1/TRD
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|Low
|Low (5%)
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!Notes
!Notes
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|<span class="blue-text">EXAMPLE:</span>
|8
8
|Gain
|<span class="blue-text">EXAMPLE:</span> Gain
|idic(8)(p11.2)
|<span class="blue-text">EXAMPLE:</span>
<br />
t(8;8)(p11.2;q12)
|<span class="blue-text">EXAMPLE:</span>
trisomy 8q<br />
|<span class="blue-text">EXAMPLE:</span> No
|chr8
|<span class="blue-text">EXAMPLE:</span> No
|No
|<span class="blue-text">EXAMPLE:</span> No
|No
|<span class="blue-text">EXAMPLE:</span>
|No
|Common recurrent secondary finding (70-80% of cases).<ref>{{Cite journal|last=Matutes|first=E.|last2=Brito-Babapulle|first2=V.|last3=Swansbury|first3=J.|last4=Ellis|first4=J.|last5=Morilla|first5=R.|last6=Dearden|first6=C.|last7=Sempere|first7=A.|last8=Catovsky|first8=D.|date=1991-12-15|title=Clinical and laboratory features of 78 cases of T-prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/1742486|journal=Blood|volume=78|issue=12|pages=3269–3274|issn=0006-4971|pmid=1742486}}</ref>
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==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
!Notes
!Notes
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|<span class="blue-text">EXAMPLE:</span>
|inv(14)(q11q32)
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
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|TCL1A
|Oncogene
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|ATM mutations
|None specified
|Yes
|Yes
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|}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==
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|TCL1A
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|T-cell signaling
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|Increased cell survival and proliferation
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|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
The genetic diagnostic process involves detecting clonal rearrangements of the TR gene and rearrangements of the TCL1 gene at the TRB or TRG loci.
==Familial Forms==
==Familial Forms==
A subset of cases may develop in the context of ataxia-telangiectasia (AT), which is characterized by germline mutations in the ATM gene. Penetrance of the tumor phenotype is about 10% to 15% by early adulthood.<ref>{{Cite journal|last=Taylor|first=A. M.|last2=Metcalfe|first2=J. A.|last3=Thick|first3=J.|last4=Mak|first4=Y. F.|date=1996-01-15|title=Leukemia and lymphoma in ataxia telangiectasia|url=https://pubmed.ncbi.nlm.nih.gov/8555463|journal=Blood|volume=87|issue=2|pages=423–438|issn=0006-4971|pmid=8555463}}</ref> It represents nearly 3% of all malignancies in patients with ataxia-telangiectasia.<ref>{{Cite journal|last=Li|first=Geling|last2=Waite|first2=Emily|last3=Wolfson|first3=Julie|date=2017-12-26|title=T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib)|url=https://pubmed.ncbi.nlm.nih.gov/29296924|journal=Blood Advances|volume=1|issue=27|pages=2724–2728|doi=10.1182/bloodadvances.2017010470|issn=2473-9529|pmc=5745136|pmid=29296924}}</ref>
==Additional Information==
==Additional Information==
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[[Category:DISEASE]]
[[Category:DISEASE]]
[[Category:Diseases T]]
[[Category:Diseases T]]
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