HAEM5:Hepatosplenic T-cell lymphoma - Revision history

Sumire.Kitahara: /* Familial Forms */

2026-02-18T03:52:07Z

Familial Forms

← Older revision		Revision as of 22:52, 17 February 2026
Line 230:		Line 230:

	==Epigenomic Alterations==		==Epigenomic Alterations==
			''AIM1'' is dramatically reduced in HSTL likely due to promoter methylation<ref name=":5" />
	*''AIM1'' is dramatically reduced in HSTL likely due to promoter methylation<ref name=":5" />		*Suggest ''AIM1'' may play a role as a tumor suppressor gene in HSTL oncogenesis<ref name=":5">Travert M, Huang Y, De Leval L, Martin-Garcia N, Delfau-Larue MH, Berger F, Bosq J, Brière J, Soulier J, Macintyre E, Marafioti T. Molecular features of hepatosplenic T-cell lymphoma unravels potential novel therapeutic targets. Blood, The Journal of the American Society of Hematology. 2012 Jun 14;119(24):5795-806.</ref>
	**Suggest ''AIM1'' may play a role as a tumor suppressor gene in HSTL oncogenesis<ref name=":5">Travert M, Huang Y, De Leval L, Martin-Garcia N, Delfau-Larue MH, Berger F, Bosq J, Brière J, Soulier J, Macintyre E, Marafioti T. Molecular features of hepatosplenic T-cell lymphoma unravels potential novel therapeutic targets. Blood, The Journal of the American Society of Hematology. 2012 Jun 14;119(24):5795-806.</ref>		Eight consistently hypermethylated genes (''BCL11B'', ''CD5'', ''CXCR6'', ''GIMAP7'', ''LTA'', SEPT9, ''UBAC2'', ''UXS1'') and four consistently hypomethylated genes (''ADARB1'', ''NFIC'', ''NR1H3'', ''ST3GAL3'') in HSTL<ref name=":6">{{Cite journal\|last=Bergmann\|first=Anke K.\|last2=Fataccioli\|first2=Virginie\|last3=Castellano\|first3=Giancarlo\|last4=Martin-Garcia\|first4=Nadine\|last5=Pelletier\|first5=Laura\|last6=Ammerpohl\|first6=Ole\|last7=Bergmann\|first7=Juri\|last8=Bhat\|first8=Jaydeep\|last9=Pau\|first9=Enrique Carrillo-de Santa\|date=03 2019\|title=DNA methylation profiling of hepatosplenic T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30337361\|journal=Haematologica\|volume=104\|issue=3\|pages=e104–e107\|doi=10.3324/haematol.2018.196196\|issn=1592-8721\|pmc=6395348\|pmid=30337361}}</ref>.
			*Hypermethylated genes (''LTA'', ''CD5'', ''CXCR6'', ''GIMAP7'', ''BCL11B'' and ''SEPT9)'' are relevant to the pathobiology of T-cell leukemias/lymphomas, and are hypermethylated at active promoter sites mainly around transcription start sites<ref name=":6" />.
	*Eight consistently hypermethylated genes (''BCL11B'', ''CD5'', ''CXCR6'', ''GIMAP7'', ''LTA'', SEPT9, ''UBAC2'', ''UXS1'') and four consistently hypomethylated genes (''ADARB1'', ''NFIC'', ''NR1H3'', ''ST3GAL3'') in HSTL<ref name=":6">{{Cite journal\|last=Bergmann\|first=Anke K.\|last2=Fataccioli\|first2=Virginie\|last3=Castellano\|first3=Giancarlo\|last4=Martin-Garcia\|first4=Nadine\|last5=Pelletier\|first5=Laura\|last6=Ammerpohl\|first6=Ole\|last7=Bergmann\|first7=Juri\|last8=Bhat\|first8=Jaydeep\|last9=Pau\|first9=Enrique Carrillo-de Santa\|date=03 2019\|title=DNA methylation profiling of hepatosplenic T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30337361\|journal=Haematologica\|volume=104\|issue=3\|pages=e104–e107\|doi=10.3324/haematol.2018.196196\|issn=1592-8721\|pmc=6395348\|pmid=30337361}}</ref>.		**Hypermethylation of CpGs around transcription start sites shows a lack of protein expression of CD5 and CXCR6 by immunohistochemistry in HSTL, compared to normal lymphocytes<ref name=":6" />.
	**Hypermethylated genes (''LTA'', ''CD5'', ''CXCR6'', ''GIMAP7'', ''BCL11B'' and ''SEPT9)'' are relevant to the pathobiology of T-cell leukemias/lymphomas, and are hypermethylated at active promoter sites mainly around transcription start sites<ref name=":6" />.		**Note: This finding is not specific to HSTL and can be seen in other T-cell lymphomas<ref name=":6" />
	***Hypermethylation of CpGs around transcription start sites shows a lack of protein expression of CD5 and CXCR6 by immunohistochemistry in HSTL, compared to normal lymphocytes<ref name=":6" />.		A single study has shown use of IFNα2c therapy-induced changes in CpG methylation<ref name=":7">{{Cite journal\|last=Bhat\|first=Jaydeep\|last2=Bergmann\|first2=Anke K.\|last3=Waschina\|first3=Silvio\|last4=Nerl\|first4=Christoph\|last5=Kaleta\|first5=Christoph\|last6=Siebert\|first6=Reiner\|last7=Ammerpohl\|first7=Ole\|last8=Kabelitz\|first8=Dieter\|date=2021-05\|title=DNA methylation profile of a hepatosplenic gamma/delta T-cell lymphoma patient associated with response to interferon-α therapy\|url=https://pubmed.ncbi.nlm.nih.gov/32820235\|journal=Cellular & Molecular Immunology\|volume=18\|issue=5\|pages=1332–1335\|doi=10.1038/s41423-020-0518-4\|issn=2042-0226\|pmc=8093208\|pmid=32820235}}</ref>
	****Note: This finding is not specific to HSTL and can be seen in other T-cell lymphomas<ref name=":6" />		*CpG methylation changes have the potential to serve as biomarkers of drug responses and/or disease progression<ref name=":7" />

	*A single study has shown use of IFNα2c therapy-induced changes in CpG methylation<ref name=":7">{{Cite journal\|last=Bhat\|first=Jaydeep\|last2=Bergmann\|first2=Anke K.\|last3=Waschina\|first3=Silvio\|last4=Nerl\|first4=Christoph\|last5=Kaleta\|first5=Christoph\|last6=Siebert\|first6=Reiner\|last7=Ammerpohl\|first7=Ole\|last8=Kabelitz\|first8=Dieter\|date=2021-05\|title=DNA methylation profile of a hepatosplenic gamma/delta T-cell lymphoma patient associated with response to interferon-α therapy\|url=https://pubmed.ncbi.nlm.nih.gov/32820235\|journal=Cellular & Molecular Immunology\|volume=18\|issue=5\|pages=1332–1335\|doi=10.1038/s41423-020-0518-4\|issn=2042-0226\|pmc=8093208\|pmid=32820235}}</ref>
	**CpG methylation changes have the potential to serve as biomarkers of drug responses and/or disease progression<ref name=":7" />

	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==
Line 321:		Line 318:

	==Familial Forms==		==Familial Forms==
			N/A
	*N/A

	==Additional Information==		==Additional Information==

Sumire.Kitahara at 04:08, 7 January 2026

2026-01-07T04:08:53Z

← Older revision		Revision as of 23:08, 6 January 2026
Line 1:		Line 1:
	~~{{DISPLAYTITLE:Hepatosplenic T-cell lymphoma}}~~

	==Primary Author(s)*==		==Primary Author(s)*==
	Forough Sargolzaeiaval, MD		Forough Sargolzaeiaval, MD

Sumire.Kitahara: /* Gene Rearrangements */

2026-01-07T02:06:22Z

Gene Rearrangements

Show changes

Forough.Sargolzaeiaval: /* Individual Region Genomic Gain/Loss/LOH */

2025-12-10T06:00:21Z

Individual Region Genomic Gain/Loss/LOH

Show changes

Forough.Sargolzaeiaval: /* Individual Region Genomic Gain/Loss/LOH */

2025-11-24T07:08:11Z

Individual Region Genomic Gain/Loss/LOH

Show changes

Bailey.Glen at 17:16, 3 July 2025

2025-07-03T17:16:17Z

@@ Line 27: / Line 27: @@
 |Hepatosplenic T-cell lymphoma
 |}
 ==Related Terminology==

Bailey.Glen at 21:35, 25 May 2025

2025-05-25T21:35:45Z

← Older revision		Revision as of 16:35, 25 May 2025
Line 77:		Line 77:
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Chr #!!~~'''~~Gain, Loss, Amp, LOH~~'''~~!!~~'''~~Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]~~'''~~!!~~'''~~Relevant Gene(s)~~'''~~		!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~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>		\|<span class="blue-text">EXAMPLE:</span>
Line 187:		Line 187:
	!Chromosomal Pattern		!Chromosomal Pattern
	!Molecular Pathogenesis		!Molecular Pathogenesis
	!~~'''~~Prevalence -~~'''~~		!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~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>		\|<span class="blue-text">EXAMPLE:</span>
Line 258:		Line 258:
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene!!~~'''~~Genetic Alteration~~'''~~!!~~'''~~Tumor Suppressor Gene, Oncogene, Other~~'''~~!!~~'''~~Prevalence -~~'''~~		!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T ~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~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>''EGFR''		\|<span class="blue-text">EXAMPLE:</span>''EGFR''
Line 302:		Line 302:
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene; Genetic Alteration!!~~'''~~Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)~~'''~~!!~~'''~~Prevalence (COSMIC / TCGA / Other)~~'''~~!!~~'''~~Concomitant Mutations~~'''~~!!~~'''~~Mutually Exclusive Mutations~~'''~~		!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC / TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
	!~~'''~~Diagnostic Significance (Yes, No or Unknown)~~'''~~<ref name=":4" />		!Diagnostic Significance (Yes, No or Unknown)<ref name=":4" />
	!Prognostic Significance (Yes, No or Unknown)<ref name=":2" /><ref name=":4" />		!Prognostic Significance (Yes, No or Unknown)<ref name=":2" /><ref name=":4" />
	!Therapeutic Significance (Yes, No or Unknown)<ref name=":2" /><ref>{{Cite journal\|last=Pro\|first=Barbara\|last2=Allen\|first2=Pamela\|last3=Behdad\|first3=Amir\|date=2020-10-29\|title=Hepatosplenic T-cell lymphoma: a rare but challenging entity\|url=https://pubmed.ncbi.nlm.nih.gov/32756940\|journal=Blood\|volume=136\|issue=18\|pages=2018–2026\|doi=10.1182/blood.2019004118\|issn=1528-0020\|pmc=7596851\|pmid=32756940}}</ref>		!Therapeutic Significance (Yes, No or Unknown)<ref name=":2" /><ref>{{Cite journal\|last=Pro\|first=Barbara\|last2=Allen\|first2=Pamela\|last3=Behdad\|first3=Amir\|date=2020-10-29\|title=Hepatosplenic T-cell lymphoma: a rare but challenging entity\|url=https://pubmed.ncbi.nlm.nih.gov/32756940\|journal=Blood\|volume=136\|issue=18\|pages=2018–2026\|doi=10.1182/blood.2019004118\|issn=1528-0020\|pmc=7596851\|pmid=32756940}}</ref>

Bailey.Glen at 20:12, 25 May 2025

2025-05-25T20:12:05Z

← Older revision		Revision as of 15:12, 25 May 2025
Line 42:		Line 42:
	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].		<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==
	~~<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Erythrophagocytic Tγ lymphoma
	\|}		\|}

Bailey.Glen at 17:37, 24 March 2025

2025-03-24T17:37:40Z

← Older revision		Revision as of 12:37, 24 March 2025
Line 5:		Line 5:
	*Forough Sargolzaeiaval, MD		*Forough Sargolzaeiaval, MD
	*Michelle Don, MD, MS		*Michelle Don, MD, MS
	~~__TOC__~~

	==WHO Classification of Disease==		==WHO Classification of Disease==

Jennelleh: /* Gene Rearrangements */

2025-02-19T08:37:13Z

Gene Rearrangements

← Older revision		Revision as of 03:37, 19 February 2025
Line 65:		Line 65:
	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|		\|N/A
	\|		\|
	\|		\|
Line 532:		Line 532:
	The <u>morphologic features</u> of this disease are detailed below:		The <u>morphologic features</u> of this disease are detailed below:

	* Typically shows a sinusoidal pattern		*Typically shows a sinusoidal pattern

	The <u>immunophenotype</u> of this disease is detailed below:		The <u>immunophenotype</u> of this disease is detailed below: