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HAEM5:T-prolymphocytic leukaemia (view source)

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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]

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==Primary Author(s)*==

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Parastou Tizro, MD, Celeste C. Eno, PhD, Sumire Kitahara, MD

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~~{{Under Construction}}~~

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Cedars-Sinai, Los Angeles, CA

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~~(''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ HUGO~~-~~approved gene names and symbols] (italicized when appropriate)~~, [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' ''[[Author_Instructions]]'' ''and [[Frequently Asked Questions (FAQs)|FAQs]] as well as contact your [[Leadership|Associate Editor]] or [mailto:CCGA@cancergenomics.org Technical Support])''

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~~==Primary Author(s)*==~~

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~~Parastou Tizro, MD, Celeste C. Eno, PHD, Sumire Kitahara~~, MD

==WHO Classification of Disease==

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~~(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)~~

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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.<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>

==Synonyms / Terminology==

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~~T-cell chronic lymphocytic leukemia~~

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None

==Epidemiology / Prevalence==

T-PLL is an uncommon disease, accounting for approximately 2% of all mature lymphoid leukemias in adults. It mainly affects older individuals, with a median onset age of 65 years, ranging from 30 to 94 years. The disorder exhibits a slight male predominance, with a male to female ratio of 1.33:1.<ref name=":5" />

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==Diagnostic criteria==

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Diagnosis requires either all three major criteria or the first two major criteria along with one minor criterion:<ref name=":5" />

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Diagnosis requires either all three major criteria '''or''' the first two major criteria along with one minor criterion:<ref name=":5" />

*'''Major criteria:'''

**5 x 109/L cells of T PLL phenotype in peripheral blood or bone marrow

**T cell clonality by molecular or flow cytometry methods

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**Abnormalities of 14q32 or Xq28 or expression of TCL1A/B or MTC

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**Abnormalities of 14q32 or Xq28 or expression of TCL1A/B or MTC**

*'''Minor criteria:'''

**Abnormalities involving chromosome 11

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**Abnormalities in chromosome 5, 12, 13, 22 or complex karyotype

**Involvement of specific sites (spleen, effusions)

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<nowiki>**</nowiki>Cases lacking these abnormalities may be referred to as "TCL1 family-negative T-PLL." by some investigators<ref name=":0" />. It is, however, recommended in WHO-HAEM5 that such cases should preferably be classified as peripheral T-cell lymphoma NOS with leukemic involvement (after exclusion of other specific leukemic T-cell entities) as there are insufficient clinicopathological and molecular data to determine the relationship of TCL1 family–negative T-PLL to T-PLL.

==Characteristic Chromosomal Patterns==

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==Gene Mutations (SNV / INDEL)==

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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. ~~As deletions~~ and mutations of the ATM gene, present in up to 90% of T-PLL cases but typically absent in other mature T-cell malignancies~~, they~~ are considered highly indicative ~~in diagnosing~~ suspected TCL1 family-negative T-PLL. <ref name=":8">{{Cite journal|last=Schrader|first=A.|last2=Crispatzu|first2=G.|last3=Oberbeck|first3=S.|last4=Mayer|first4=P.|last5=Pützer|first5=S.|last6=von Jan|first6=J.|last7=Vasyutina|first7=E.|last8=Warner|first8=K.|last9=Weit|first9=N.|date=2018-02-15|title=Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL|url=https://pubmed.ncbi.nlm.nih.gov/29449575|journal=Nature Communications|volume=9|issue=1|pages=697|doi=10.1038/s41467-017-02688-6|issn=2041-1723|pmc=5814445|pmid=29449575}}</ref><ref name=":3" />

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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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Deletions and mutations of the ATM gene (present in up to 90% of T-PLL cases but typically absent in other mature T-cell malignancies) are considered highly indicative for a diagnosis of suspected TCL1 family-negative T-PLL.<ref name=":8">{{Cite journal|last=Schrader|first=A.|last2=Crispatzu|first2=G.|last3=Oberbeck|first3=S.|last4=Mayer|first4=P.|last5=Pützer|first5=S.|last6=von Jan|first6=J.|last7=Vasyutina|first7=E.|last8=Warner|first8=K.|last9=Weit|first9=N.|date=2018-02-15|title=Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL|url=https://pubmed.ncbi.nlm.nih.gov/29449575|journal=Nature Communications|volume=9|issue=1|pages=697|doi=10.1038/s41467-017-02688-6|issn=2041-1723|pmc=5814445|pmid=29449575}}</ref><ref name=":3" />

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==Genetic Diagnostic Testing Methods==

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~~Cytogenetics (FISH, CpG-stimulated Karyotype, SNP microarray), PCR for TRB/TRG and Next-Generation Sequencing (NGS).~~ The genetic diagnostic process involves detecting clonal rearrangements of the TR gene and rearrangements of the ''TCL1'' gene at the ''TRB'' or ''TRG'' loci.

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The genetic diagnostic process involves detecting clonal rearrangements of the TR gene and rearrangements of the ''TCL1'' gene at the ''TRB'' or ''TRG'' loci.

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*Cytogenetics (FISH, CpG-stimulated Karyotype, SNP microarray)

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*PCR for TRB/TRG

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*Next-Generation Sequencing (NGS)

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==Familial Forms==

While there is no noticeable familial clustering of T-cell prolymphocytic leukemia (T-PLL), a subset of cases can develop in the context of ataxia-telangiectasia (AT). AT is characterized by germline mutations in the ATM gene, and patients with AT are at an increased risk for various malignancies, including T-PLL. In these cases, biallelic inactivation of the ATM tumor suppressor gene occurs, with about 10% to 15% penetrance of the tumor phenotype by early adulthood. T-PLL represents nearly 3% of all malignancies in patients with ataxia-telangiectasia. <ref>{{Cite journal|last=Suarez|first=Felipe|last2=Mahlaoui|first2=Nizar|last3=Canioni|first3=Danielle|last4=Andriamanga|first4=Chantal|last5=Dubois d'Enghien|first5=Catherine|last6=Brousse|first6=Nicole|last7=Jais|first7=Jean-Philippe|last8=Fischer|first8=Alain|last9=Hermine|first9=Olivier|date=2015-01-10|title=Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies|url=https://pubmed.ncbi.nlm.nih.gov/25488969|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=33|issue=2|pages=202–208|doi=10.1200/JCO.2014.56.5101|issn=1527-7755|pmid=25488969}}</ref> <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> <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>

Sumire.Kitahara

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