HAEM5:T-prolymphocytic leukaemia - Revision history

Sumire.Kitahara: /* Notes */

2026-01-07T04:06:02Z

Notes

← Older revision		Revision as of 23:06, 6 January 2026
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	==Notes==		==Notes==
	<nowiki>*</nowiki>''Citation of this Page'': Tizro P, Eno C, Kitahara S.“T-prolymphocytici leukemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 01/6/2026, <nowiki>https://ccga.io/index.php/HAEM5:T-prolymphocytic_leukaemia</nowiki>.		<nowiki>*</nowiki>''Citation of this Page'': Tizro P, Eno C, Kitahara S.“T-prolymphocytici leukemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 01/6/2026, <nowiki>https://ccga.io/index.php/HAEM5:T-prolymphocytic_leukaemia</nowiki>.

Sumire.Kitahara: /* Notes */

2026-01-07T04:04:32Z

Notes

← Older revision		Revision as of 23:04, 6 January 2026
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	~~{{DISPLAYTITLE:T-prolymphocytic leukaemia}}~~

	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
	==Primary Author(s)*==		==Primary Author(s)*==
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	{\| class="wikitable"		{\| class="wikitable"
	\|+
	\|Acceptable		\|Acceptable
	\|N/A		\|N/A
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	\|Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome		\|Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome
	\|}		\|}

	~~<br />~~
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
	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>		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>
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	\|Minor diagnostic criteria.<ref name=":6" />		\|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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	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==
	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" />[[File:Inv(14)(q11.2q32).png\|thumb\|Inv(14)(q11.2q32)\|alt=]]		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" />[[File:Inv(14)(q11.2q32).png\|thumb\|Inv(14)(q11.2q32)\|alt=\|center]]
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
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	\|No		\|No
	\|Minor diagnostic criteria, the most frequent cooperating lesion <ref name=":6" />		\|Minor diagnostic criteria, the most frequent cooperating lesion <ref name=":6" />
	\|}~~<br />~~		\|}
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==
	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.		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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	<references />		<references />
	==Notes==		==Notes==
	<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA ~~coordinators (contact information provided on~~ the ~~homepage). Additional global feedback or concerns are also welcome~~.		<nowiki>*</nowiki>''Citation of this Page'': Tizro P, Eno C, Kitahara S.“T-prolymphocytici leukemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 01/6/2026, <nowiki>https://ccga.io/index.php/HAEM5:T-prolymphocytic_leukaemia</nowiki>.


			<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership\|''Associate Editor'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

			Prior Author(s): N/A
	[[Category:HAEM5]]		[[Category:HAEM5]]
	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases T]]		[[Category:Diseases T]]

Sumire.Kitahara: /* Links */

2025-11-06T22:06:33Z

Links

← Older revision		Revision as of 17:06, 6 November 2025
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	==Links==		==Links==
	(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>.~~" portion.'')</span>~~		See references.
	==References==		==References==
	<references />		<references />

Parastou.Tizro: /* Gene Mutations (SNV/INDEL) */

2025-11-04T08:05:39Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 03:05, 4 November 2025
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	\|Mutation/deletion, loss of heterozygosity, or biallelic mutation		\|Mutation/deletion, loss of heterozygosity, or biallelic mutation
	\|Tumor Suppressor Gene		\|Tumor Suppressor Gene
	\|Common		\|Common
	\|D, P, T		\|D, P, T
	\|No		\|No
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	\|''FBXW10''		\|''FBXW10''
	<br />		<br />
	\|~~<span class="blue~~-~~text">EXAMPLE:</span> Variable LOF mutations~~		\|Loss-of-function
	\|Tumor Supressor Gene		\|Tumor Supressor Gene
	\|Common		\|Common
	\|Unknown		\|Unknown
	\|No		\|No
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	\|-		\|-
	\|''IL2RG,'' ''JAK1, JAK3, STAT5B''		\|''IL2RG,'' ''JAK1, JAK3, STAT5B''
	\|~~Activating~~ mutations		\|Variable activating mutations
	\|Oncogene		\|Oncogene
	\|Variable based on gene; Recurrent to Common		\|Variable based on gene; Recurrent to Common
	\|D, P, T		\|D, P, T
	\|No		\|No
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	\|-		\|-
	\|''BCOR''		\|''BCOR''
	\|		\|Loss-of-function
	\|Tumor Supressor Gene		\|Tumor Supressor Gene
	\|Rare		\|Rare
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	\|-		\|-
	\|''SAMHD1''		\|''SAMHD1''
	\|		\|Loss-of-function
	\|Tumor Supressor Gene		\|Tumor Supressor Gene
	\|Recurrent		\|Recurrent
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	\|-		\|-
	\|''CHEK2''		\|''CHEK2''
	\|		\|Loss-of-function
	\|Tumor Supressor Gene		\|Tumor Supressor Gene
	\|Rare		\|Rare
	\|Unknown		\|Unknown
	\|No		\|No
	\|''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal\|last=Braun\|first=Till\|last2=Dechow\|first2=Annika\|last3=Friedrich\|first3=Gregor\|last4=Seifert\|first4=Michael\|last5=Stachelscheid\|first5=Johanna\|last6=Herling\|first6=Marco\|date=2021\|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact\|url=https://pubmed.ncbi.nlm.nih.gov/34869023\|journal=Frontiers in Oncology\|volume=11\|pages=775363\|doi=10.3389/fonc.2021.775363\|issn=2234-943X\|pmc=8639578\|pmid=34869023}}</ref>		\|''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal\|last=Braun\|first=Till\|last2=Dechow\|first2=Annika\|last3=Friedrich\|first3=Gregor\|last4=Seifert\|first4=Michael\|last5=Stachelscheid\|first5=Johanna\|last6=Herling\|first6=Marco\|date=2021\|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact\|url=https://pubmed.ncbi.nlm.nih.gov/34869023\|journal=Frontiers in Oncology\|volume=11\|pages=775363\|doi=10.3389/fonc.2021.775363\|issn=2234-943X\|pmc=8639578\|pmid=34869023}}</ref>
	\|-		\|-
	\|''TP53''		\|''TP53''
	\|		\|Variable inactivating/loss of function mutations
	\|Tumor Supressor Gene		\|Tumor Supressor Gene
	\|Rare		\|Rare
	\|P (may portend resistance to therapy)		\|P (may portend resistance to therapy)
	\|No		\|No
	\|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" />		\|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" />

Parastou.Tizro: /* Gene Mutations (SNV/INDEL) */

2025-11-04T07:59:29Z

Gene Mutations (SNV/INDEL)

Show changes

Parastou.Tizro: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-11-04T07:29:15Z

Characteristic Chromosomal or Other Global Mutational Patterns

← Older revision		Revision as of 02:29, 4 November 2025
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	\|D, P, T		\|D, P, T
	\|No		\|No
	\|Frequent, Minor diagnostic criteria.<ref name=":6" />PARP inhibitors may be considered as an off-label therapy		\|Frequent, Minor diagnostic criteria.<ref name=":6" />PARP inhibitors may be considered as an off-label therapy (NCT03263637)
	\|-		\|-
	\|12		\|12
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	\|Common		\|Common
	\|D,P		\|D,P
	\|		\|No
	\|		\|Major diagnostic criteria, the most frequent cooperating lesion <ref name=":6" />
	\|}<br />		\|}<br />
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==
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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~''~~EGFR~~''		\|''ATM''

	<br />		<br />
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> Exon 18-21 activating mutations~~		\|Mutation/deletion
	\|~~<span class="blue-text">EXAMPLE:</span> Oncogene~~		\|Tumor suppressor
	\|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)		\|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
	\|<span class="blue-text">EXAMPLE:</span> T		\|<span class="blue-text">EXAMPLE:</span> T

Parastou.Tizro: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-11-03T13:17:07Z

Characteristic Chromosomal or Other Global Mutational Patterns

← Older revision		Revision as of 08:17, 3 November 2025
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	\|inv(14)(q11q32)		\|inv(14)(q11q32)
	t(14;14)(q11.2;q32.1)		t(14;14)(q11.2;q32.1)
	\|~~<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated~~ with ~~oligodendroglioma (add reference).~~		\|''TCL1A'' or ''MTCP1'' activation with constitutive activation of the ''AKT'' signaling pathway, promoting proliferation and survival
	\|Common		\|Common
	\|D		\|D
	\|No		\|No
	\|Major diagnostic criteria <ref name=":6" />		\|Major diagnostic criteria <ref name=":6" />
			\|-
			\|ATM loss / mutation; del(11)(q22–q23), loss of heterozygosity, or biallelic mutation
			\|Impaired DNA damage response → genomic instability, accumulation of secondary lesions
			\|Common
			\|D,P
			\|
			\|
	\|}<br />		\|}<br />
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==

Parastou.Tizro: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-11-03T11:18:30Z

Characteristic Chromosomal or Other Global Mutational Patterns

@@ Line 172: / Line 172: @@
 ==Characteristic Chromosomal or Other Global Mutational Patterns==
-Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
+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" />[[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)|alt=]]
 {| class="wikitable sortable"
 |-
@@ Line 182: / Line 182: @@
 !Established Clinical Significance Per Guidelines - Yes or No (Source)
 !Clinical Relevance Details/Other Notes
 |-
 |inv(14)(q11q32)
 t(14;14)(q11.2;q32.1)
-|Yes
+|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
-|No
+|Common
 |No
-|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)
+|Major diagnostic criteria <ref name=":6" />
-|}
+|}<br />
 ==Gene Mutations (SNV/INDEL)==
 Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>

Parastou.Tizro: /* Individual Region Genomic Gain/Loss/LOH */

2025-11-03T11:00:36Z

Individual Region Genomic Gain/Loss/LOH

Show changes

Parastou.Tizro: /* Gene Rearrangements */

2025-11-03T10:01:44Z

Gene Rearrangements

← Older revision		Revision as of 05:01, 3 November 2025
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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|inv(14)<br />\|\|TCRα/δ and TCL1A\|\|Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''\|\|inv(14)(q11.2q32.1)		\|inv(14)<br />\|\|TCRα/δ and TCL1A\|\|Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''\|\|inv(14)(q11.2q32.1)*
	\|Common ~60%		\|Common ~60%
	\|~~<span class="blue-text">EXAMPLE:</span>~~ D~~, P, T~~		\|D
	\|~~<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)~~		\|No
	\|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. Major diagnostic criteria.<ref name=":6" />		\|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. Major diagnostic criteria.<ref name=":6" />
	\|-		\|-
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	\|TCRα/δ and TCL1A		\|TCRα/δ and TCL1A
	\|''Reciprocal translocation between the two'' homologous chromosome 14s, leading to juxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''		\|''Reciprocal translocation between the two'' homologous chromosome 14s, leading to juxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''
	\|t(14;14)(q11.2;q32.1)		\|t(14;14)(q11.2;q32.1)*
	\|Recurrent ~20%		\|Recurrent ~20-25%
	\|~~<span class="blue-text">EXAMPLE:</span>~~ D		\|D
	\|		\|No
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span>~~		\|*In most diagnostic/genetic reports (e.g., FISH or karyotype), the inversion and translocation may grouped together. Their distinction is mainly cytogenetic, not biological.

	~~''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t~~(~~10;19~~), ~~but this~~ is ~~usually indistinguishable from t(4;19) by short-read sequencing (add references)~~.
	\|-		\|-
	\|t(X;14)		\|t(X;14)
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	\|t(X;14)(q28;q11.2)		\|t(X;14)(q28;q11.2)
	\|Rare ~5%		\|Rare ~5%
	\|		\|D
	\|		\|No
	\|Major diagnostic criteria.<ref name=":6" />		\|Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome
	\|}		\|}

	<br />		<br />
	~~{\| class="wikitable sortable"~~
	\|-
	~~!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence~~
	~~!Diagnostic Significance (Yes, No or Unknown)~~
	~~!Prognostic Significance (Yes, No or Unknown)~~
	~~!Therapeutic Significance (Yes, No or Unknown)~~
	~~!Notes~~
	\|-
	~~\|inv(14)(q11.2q32.1)~~
	~~t(14;14)(q11.2;q32.1)~~
	~~\|''TCL1A/B ,TRD''\|\| \|\|inv(14) ~60%~~
	~~t(14;14) ~25%~~
	~~\|Yes~~
	~~\|No~~
	~~\|No~~
	\|
	\|-
	~~\|t(X;14)(q28;q11.2)~~
	~~\|''MTCP1, TRD''~~
	\|
	~~\|Low (5%)~~
	~~\|Yes~~
	~~\|No~~
	~~\|No~~
	~~\|Major diagnostic criteria.<ref name=":6" />~~
	\|}

	==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>		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>