Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

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==Gene Rearrangements==
==Gene Rearrangements==
Rearrangements involving the TCL1 (T-cell leukemia/lymphoma 1) family genes—''TCL1A, MTCP1'' (mature T-cell proliferation), or ''TCL1B'' (also known as ''TCL1/MTCP''1-like 1 [''TML''1])—are highly specific to T-PLL and occur in more than 90% of cases. These translocations juxtapose the ''TRA'' locus with the oncogenes ''TCL1A'' or ''TCL1B'', or in the case of t(X;14), with the ''MTCP1'' gene.<ref name=":6" /><ref name=":7">Matutes E, et al., (2017). T-cell prolymphocytic leukemia, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p346-347.</ref>
Rearrangements involving the TCL1 (T-cell leukemia/lymphoma 1) family genes—''TCL1A, MTCP1'' (mature T-cell proliferation), or ''TCL1B'' (also known as ''TCL1/MTCP''1-like 1 [''TML''1])—are highly specific to T-PLL and occur in more than 90% of cases. These translocations juxtapose the ''TRA'' locus with the oncogenes ''TCL1A'' or ''TCL1B'', or in the case of t(X;14), with the ''MTCP1'' gene.<ref name=":6">{{Cite journal|last=Staber|first=Philipp B.|last2=Herling|first2=Marco|last3=Bellido|first3=Mar|last4=Jacobsen|first4=Eric D.|last5=Davids|first5=Matthew S.|last6=Kadia|first6=Tapan Mahendra|last7=Shustov|first7=Andrei|last8=Tournilhac|first8=Olivier|last9=Bachy|first9=Emmanuel|date=2019-10-03|title=Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/31292114|journal=Blood|volume=134|issue=14|pages=1132–1143|doi=10.1182/blood.2019000402|issn=1528-0020|pmc=7042666|pmid=31292114}}</ref><ref name=":7">Matutes E, et al., (2017). T-cell prolymphocytic leukemia, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p346-347.</ref>
{| class="wikitable sortable"
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<br />
<br />
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
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>
 
Table: A list of clinically significant and/or recurrent CNAs and CN-LOH with potential or strong diagnostic, prognostic and treatment implications in T-PLL are listed below. 
{| class="wikitable sortable"
{| class="wikitable sortable"
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>
7
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span>
chr7
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
chr8
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
17
|<span class="blue-text">EXAMPLE:</span> Amp
|<span class="blue-text">EXAMPLE:</span>
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
''ERBB2''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
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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>
Table: A list of clinically significant and/or recurrent CNAs and CN-LOH with potential or strong diagnostic, prognostic and treatment implications in T-PLL are listed below. 
{| class="wikitable sortable"
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|8
|8
|Gain
|Gain
|idic(8)(p11)
t(8;8)(p11;q12)
trisomy 8q<br />8q24 (''MYC'')
|idic(8)(p11.2)
|idic(8)(p11.2)
t(8;8)(p11.2;q12)
t(8;8)(p11.2;q12)


trisomy 8q<br />8q24 (''MYC'')
trisomy 8q<br />8q24  
|Yes
|''AGO2'' <ref name=":5" />'', MYC''
|No
|D
|No
|No
|Recurrent secondary finding (70-80% of cases). Minor diagnostic criteria.<ref name=":6">{{Cite journal|last=Staber|first=Philipp B.|last2=Herling|first2=Marco|last3=Bellido|first3=Mar|last4=Jacobsen|first4=Eric D.|last5=Davids|first5=Matthew S.|last6=Kadia|first6=Tapan Mahendra|last7=Shustov|first7=Andrei|last8=Tournilhac|first8=Olivier|last9=Bachy|first9=Emmanuel|date=2019-10-03|title=Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/31292114|journal=Blood|volume=134|issue=14|pages=1132–1143|doi=10.1182/blood.2019000402|issn=1528-0020|pmc=7042666|pmid=31292114}}</ref>
|Recurrent secondary finding (70-80% of cases). Minor diagnostic criteria.<ref name=":6" />
|-
|-
|5
|5
|Abnormality
|Abnormality
|5p, 5q <ref>{{Cite journal|last=Tirado|first=Carlos A.|last2=Starshak|first2=Phillip|last3=Delgado|first3=Paul|last4=Rao|first4=Nagesh|date=2012-08-20|title="T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach"|url=https://pubmed.ncbi.nlm.nih.gov/23211026|journal=Experimental Hematology & Oncology|volume=1|issue=1|pages=21|doi=10.1186/2162-3619-1-21|issn=2162-3619|pmc=3514161|pmid=23211026}}</ref>
|5p, 5q <ref>{{Cite journal|last=Tirado|first=Carlos A.|last2=Starshak|first2=Phillip|last3=Delgado|first3=Paul|last4=Rao|first4=Nagesh|date=2012-08-20|title="T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach"|url=https://pubmed.ncbi.nlm.nih.gov/23211026|journal=Experimental Hematology & Oncology|volume=1|issue=1|pages=21|doi=10.1186/2162-3619-1-21|issn=2162-3619|pmc=3514161|pmid=23211026}}</ref>
|
|Unknown
|Yes
|D, P
|Yes
|No
|No
|Minor diagnostic criteria.<ref name=":6" />
|Minor diagnostic criteria.<ref name=":6" />
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|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><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>
|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>
|
|Unknown
|No
|Unknown
|No
|No
|No
|
|
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|11
|11
|Loss
|Loss
|11q
|11q21-q23.3
|ch11q21-q23.3
|''ATM''
|Yes
|D, P, T
|Yes
|No
|Yes (poor)
|Frequent, Minor diagnostic criteria.<ref name=":6" />PARP inhibitors may be considered as an off-label therapy
|Frequent, Minor diagnostic criteria.<ref name=":6" />
|-
|-
|12
|12
|Loss
|Loss
|12p
|12p13
|12p13
|Yes
|''CDKN1B''
|Yes
|D, P
|No
|No
|Haploinsufficiency of the ''CDKN1B'' gene at the 12p13 locus contributes to the development of T-PLL.<ref>{{Cite journal|last=Le Toriellec|first=Emilie|last2=Despouy|first2=Gilles|last3=Pierron|first3=Gaëlle|last4=Gaye|first4=Nogaye|last5=Joiner|first5=Marjorie|last6=Bellanger|first6=Dorine|last7=Vincent-Salomon|first7=Anne|last8=Stern|first8=Marc-Henri|date=2008-02-15|title=Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18073348|journal=Blood|volume=111|issue=4|pages=2321–2328|doi=10.1182/blood-2007-06-095570|issn=0006-4971|pmid=18073348}}</ref>
|Haploinsufficiency of the ''CDKN1B'' gene contributes to the development of T-PLL.<ref>{{Cite journal|last=Le Toriellec|first=Emilie|last2=Despouy|first2=Gilles|last3=Pierron|first3=Gaëlle|last4=Gaye|first4=Nogaye|last5=Joiner|first5=Marjorie|last6=Bellanger|first6=Dorine|last7=Vincent-Salomon|first7=Anne|last8=Stern|first8=Marc-Henri|date=2008-02-15|title=Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18073348|journal=Blood|volume=111|issue=4|pages=2321–2328|doi=10.1182/blood-2007-06-095570|issn=0006-4971|pmid=18073348}}</ref>Minor diagnostic criteria.<ref name=":6" />
Minor diagnostic criteria.<ref name=":6" />
|-
|-
|13
|13
|Loss
|Loss
|13q
|13q14.3
|13q14.3
|Yes
|
|No
|D
|No
|No
|Minor diagnostic criteria.<ref name=":6" />
|Minor diagnostic criteria.<ref name=":6" />
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|17
|17
|Loss
|Loss
|17p
|17p13
|17p13
|''TP53'' <ref name=":7" />
|P,T
|No
|No
|Yes
|May portend resistance to therapy
|Yes (resistance to therapy)
|May include ''TP53'' gene at 17p13.1 <ref name=":7" />
|-
|-
|22
|22
|Loss
|Loss
|Monosomy 22
|Monosomy 22
del(22q)
del(22q); 22q11-12 <ref>{{Cite journal|last=Stengel|first=Anna|last2=Kern|first2=Wolfgang|last3=Zenger|first3=Melanie|last4=Perglerová|first4=Karolina|last5=Schnittger|first5=Susanne|last6=Haferlach|first6=Torsten|last7=Haferlach|first7=Claudia|date=2014-12-06|title=A Comprehensive Cytogenetic and Molecular Genetic Characterization of Patients with T-PLL Revealed Two Distinct Genetic Subgroups and JAK3 Mutations As an Important Prognostic Marker|url=https://doi.org/10.1182/blood.V124.21.1639.1639|journal=Blood|volume=124|issue=21|pages=1639–1639|doi=10.1182/blood.v124.21.1639.1639|issn=0006-4971}}</ref><ref name=":0">{{Cite journal|last=Fang|first=Hong|last2=Beird|first2=Hannah C.|last3=Wang|first3=Sa A.|last4=Ibrahim|first4=Andrew F.|last5=Tang|first5=Zhenya|last6=Tang|first6=Guilin|last7=You|first7=M. James|last8=Hu|first8=Shimin|last9=Xu|first9=Jie|date=2023-09|title=T-prolymphocytic leukemia: TCL1 or MTCP1 rearrangement is not mandatory to establish diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/37443196|journal=Leukemia|volume=37|issue=9|pages=1919–1921|doi=10.1038/s41375-023-01956-3|issn=1476-5551|pmid=37443196}}</ref> (most common)
|
|''BCL11B'' <ref name=":0" />
22q11-12 <ref>{{Cite journal|last=Stengel|first=Anna|last2=Kern|first2=Wolfgang|last3=Zenger|first3=Melanie|last4=Perglerová|first4=Karolina|last5=Schnittger|first5=Susanne|last6=Haferlach|first6=Torsten|last7=Haferlach|first7=Claudia|date=2014-12-06|title=A Comprehensive Cytogenetic and Molecular Genetic Characterization of Patients with T-PLL Revealed Two Distinct Genetic Subgroups and JAK3 Mutations As an Important Prognostic Marker|url=https://doi.org/10.1182/blood.V124.21.1639.1639|journal=Blood|volume=124|issue=21|pages=1639–1639|doi=10.1182/blood.v124.21.1639.1639|issn=0006-4971}}</ref><ref name=":0">{{Cite journal|last=Fang|first=Hong|last2=Beird|first2=Hannah C.|last3=Wang|first3=Sa A.|last4=Ibrahim|first4=Andrew F.|last5=Tang|first5=Zhenya|last6=Tang|first6=Guilin|last7=You|first7=M. James|last8=Hu|first8=Shimin|last9=Xu|first9=Jie|date=2023-09|title=T-prolymphocytic leukemia: TCL1 or MTCP1 rearrangement is not mandatory to establish diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/37443196|journal=Leukemia|volume=37|issue=9|pages=1919–1921|doi=10.1038/s41375-023-01956-3|issn=1476-5551|pmid=37443196}}</ref>
|D
 
(most common)
|Yes
|No
|No
|No
|Minor diagnostic criteria.<ref name=":6" />
|Leading to the dysregulation of genes such as ''BCL11B'', which is crucial in T-cell development and function.<ref name=":0" />
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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