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|Frequent, '''Minor diagnostic criteria'''.<ref name=":6" />
|Frequent, '''Minor diagnostic criteria'''.<ref name=":6" />
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Diagnosing T-PLL involves a combination of clinical evaluation, laboratory tests, imaging studies, and genetic testing to identify diagnostic criteria. T-cell clonality can be confirmed through PCR, NGS, or flow cytometry.<ref>{{Cite journal|last=Kotrova|first=Michaela|last2=Novakova|first2=Michaela|last3=Oberbeck|first3=Sebastian|last4=Mayer|first4=Petra|last5=Schrader|first5=Alexandra|last6=Knecht|first6=Henrik|last7=Hrusak|first7=Ondrej|last8=Herling|first8=Marco|last9=Brüggemann|first9=Monika|date=2018-11|title=Next-generation amplicon TRB locus sequencing can overcome limitations of flow-cytometric Vβ expression analysis and confirms clonality in all T-cell prolymphocytic leukemia cases|url=https://pubmed.ncbi.nlm.nih.gov/30414304|journal=Cytometry. Part A: The Journal of the International Society for Analytical Cytology|volume=93|issue=11|pages=1118–1124|doi=10.1002/cyto.a.23604|issn=1552-4930|pmid=30414304}}</ref> Patients with T-PLL often exhibit complex karyotypes with recurrent genetic features that aid in diagnosis. Therefore, cytogenetic studies are useful for distinguishing T-PLL from other T-lymphoproliferative disorders.<ref name=":6" />
Diagnosing T-PLL involves a combination of clinical evaluation, laboratory tests, imaging studies, and genetic testing to identify diagnostic criteria. T-cell clonality can be confirmed through PCR, NGS, or flow cytometry.<ref>{{Cite journal|last=Kotrova|first=Michaela|last2=Novakova|first2=Michaela|last3=Oberbeck|first3=Sebastian|last4=Mayer|first4=Petra|last5=Schrader|first5=Alexandra|last6=Knecht|first6=Henrik|last7=Hrusak|first7=Ondrej|last8=Herling|first8=Marco|last9=Brüggemann|first9=Monika|date=2018-11|title=Next-generation amplicon TRB locus sequencing can overcome limitations of flow-cytometric Vβ expression analysis and confirms clonality in all T-cell prolymphocytic leukemia cases|url=https://pubmed.ncbi.nlm.nih.gov/30414304|journal=Cytometry. Part A: The Journal of the International Society for Analytical Cytology|volume=93|issue=11|pages=1118–1124|doi=10.1002/cyto.a.23604|issn=1552-4930|pmid=30414304}}</ref> Patients with T-PLL often exhibit complex karyotypes with recurrent genetic features that aid in diagnosis. Therefore, cytogenetic studies are useful for distinguishing T-PLL from other T-lymphoproliferative disorders.<ref name=":6" />
* '''Cytogenetic Analysis'''
*'''Cytogenetic Analysis'''
# Karyotyping: To identify characteristic chromosomal abnormalities, such as inv(14)(q11q32), t(14;14)(q11;q32), or other translocations involving chromosome 14. '''Major diagnostic criteria'''
#Karyotyping: To identify characteristic chromosomal abnormalities, such as inv(14)(q11q32), t(14;14)(q11;q32), or other translocations involving chromosome 14. '''Major diagnostic criteria'''
# Fluorescence In Situ Hybridization (FISH): To detect specific genetic abnormalities, such as TCL1 gene rearrangements as a '''Major diagnostic criterion''' or MYC as a '''Minor diagnostic criterion''' (alternatively, molecular studies could be used). see note.
#Fluorescence In Situ Hybridization (FISH): To detect specific genetic abnormalities, such as TCL1 gene rearrangements as a '''Major diagnostic criterion''' or MYC as a '''Minor diagnostic criterion''' (alternatively, molecular studies could be used). see note.
<small><u>'''Note:''' ''TCL1A'' break-apart probes specific to the 14q32 region can identify translocations involving TCL1A. When a ''TCL1A'' rearrangement is not identified and the patient has T-cell prolymphocytic leukemia/lymphoma (T-PLL), reflex testing using the ''TRAD'' break-apart probe set may be performed.</u></small>
<small><u>'''Note:''' ''TCL1A'' break-apart probes specific to the 14q32 region can identify translocations involving TCL1A. When a ''TCL1A'' rearrangement is not identified and the patient has T-cell prolymphocytic leukemia/lymphoma (T-PLL), reflex testing using the ''TRAD'' break-apart probe set may be performed.</u></small>
* '''Molecular Genetic Testing'''
*'''Molecular Genetic Testing'''
# Polymerase Chain Reaction (PCR) and Reverse Transcription PCR (RT-PCR): To show the rearrangements of the TR gene (TCRB, TCRG loci) as a '''Major diagnostic criterion,''' and alternative to FISH rearrangements of the ''TCL1'' or ''MTCP'' genes at the ''TRD'' locus can be detected by PCR. '''Major diagnostic criteria'''
#Polymerase Chain Reaction (PCR) and Reverse Transcription PCR (RT-PCR): To show the rearrangements of the TR gene (TCRB, TCRG loci) as a '''Major diagnostic criterion,''' and alternative to FISH rearrangements of the ''TCL1'' or ''MTCP'' genes at the ''TRD'' locus can be detected by PCR. '''Major diagnostic criteria'''
# Next generation sequencing (NGS)-See note
#Next generation sequencing (NGS)-See note
<u>'''<small>Note:</small>''' <small>Although alterations of ''TCL1A'', ''TCL1B (TML1)'', or ''MTCP'' are present in more than 90% of cases, they are not found in 100% of cases. Taken together, assessment of clonal TCR rearrangement, cytogenetics, and FISH are relevant genetic tests to establish the diagnosis of T-PLL. Genetic sequencing is currently not a diagnostic requirement; however, it may provide information regarding the underlying pathogenesis of T-PLL or might help to identify relevant prognostic subgroups.</small></u><ref name=":6" />
<u>'''<small>Note:</small>''' <small>Although alterations of ''TCL1A'', ''TCL1B (TML1)'', or ''MTCP'' are present in more than 90% of cases, they are not found in 100% of cases. Taken together, assessment of clonal TCR rearrangement, cytogenetics, and FISH are relevant genetic tests to establish the diagnosis of T-PLL. Genetic sequencing is currently not a diagnostic requirement; however, it may provide information regarding the underlying pathogenesis of T-PLL or might help to identify relevant prognostic subgroups.</small></u><ref name=":6" />