HAEM5:Adult T-cell leukaemia/lymphoma - Revision history

Sumire.Kitahara at 04:29, 7 January 2026

2026-01-07T04:29:21Z

← Older revision		Revision as of 23:29, 6 January 2026
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	<center>		<center>
	<references />		<references />

	~~<br />~~

	==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 [[Leadership\|''<u>Associate Editor</u>'']] 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.		<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\|''<u>Associate Editor</u>'']] 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):		Prior Author(s):

			Prasad R. Kopparapu, PhD and Ferrin C. Wheeler, PhD, FACMG



	<nowiki>*</nowiki>''Citation of this Page'': “Adult T-cell leukaemia/lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Adult_T-cell_leukaemia/lymphoma</nowiki>.		<nowiki>*</nowiki>''Citation of this Page'': “Adult T-cell leukaemia/lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Adult_T-cell_leukaemia/lymphoma</nowiki>.
	[[Category:HAEM5]]		[[Category:HAEM5]]
	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases A]]		[[Category:Diseases A]]

Sumire.Kitahara: /* WHO Classification of Disease */

2026-01-07T04:23:43Z

WHO Classification of Disease

← Older revision		Revision as of 23:23, 6 January 2026
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	{\| class="wikitable"		{\| class="wikitable"
	\|+
	\|Acceptable		\|Acceptable
	\|Adult T-cell leukaemia/lymphoma, HTLV-1 associated		\|Adult T-cell leukaemia/lymphoma, HTLV-1 associated
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	\|		\|
	\|}<center><span style="color:Maroon">'''End of V4 Section'''</span>		\|}<center><span style="color:Maroon">'''End of V4 Section'''</span>
	~~----~~
	~~==Epigenomic Alterations==~~
	~~<center><center>~~
	Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.

	ATLL patients have high expression of polycomb repressive complex (PRC) 2 components like EZH2, its homolog EZH1 and H3K27 methylase causing accumulation of trimethylation of H3K27 and altering the expression of over half of the genes. The severity of the disease is linked to continued down regulation of genes<ref>{{Cite journal\|last=Fujikawa\|first=Dai\|last2=Nakagawa\|first2=Shota\|last3=Hori\|first3=Makoto\|last4=Kurokawa\|first4=Naoya\|last5=Soejima\|first5=Ai\|last6=Nakano\|first6=Kazumi\|last7=Yamochi\|first7=Tadanori\|last8=Nakashima\|first8=Makoto\|last9=Kobayashi\|first9=Seiichiro\|date=2016-04-07\|title=Polycomb-dependent epigenetic landscape in adult T-cell leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/26773042\|journal=Blood\|volume=127\|issue=14\|pages=1790–1802\|doi=10.1182/blood-2015-08-662593\|issn=1528-0020\|pmid=26773042}}</ref>.		== Epigenomic Alterations ==
			Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.

			ATLL patients have high expression of polycomb repressive complex (PRC) 2 components like EZH2, its homolog EZH1 and H3K27 methylase causing accumulation of trimethylation of H3K27 and altering the expression of over half of the genes. The severity of the disease is linked to continued down regulation of genes<ref>{{Cite journal\|last=Fujikawa\|first=Dai\|last2=Nakagawa\|first2=Shota\|last3=Hori\|first3=Makoto\|last4=Kurokawa\|first4=Naoya\|last5=Soejima\|first5=Ai\|last6=Nakano\|first6=Kazumi\|last7=Yamochi\|first7=Tadanori\|last8=Nakashima\|first8=Makoto\|last9=Kobayashi\|first9=Seiichiro\|date=2016-04-07\|title=Polycomb-dependent epigenetic landscape in adult T-cell leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/26773042\|journal=Blood\|volume=127\|issue=14\|pages=1790–1802\|doi=10.1182/blood-2015-08-662593\|issn=1528-0020\|pmid=26773042}}</ref>.

	==Genes and Main Pathways Involved==		== Genes and Main Pathways Involved ==
	~~<center>~~
	The most important genes involved in the development and progress of ATLL are the Tax and HBZ contributed by the HTLV-1 virus and genes listed in gene mutations table (above) from the host. The main pathways involved are TCR-NF-κB signaling by gain of function and amplifications in PLCG1, VAV1 and FYN, CD28, PRKCB, CARD11, IRF4 and RHOA; and loss of function mutations or deletions in CBLB, TRAF, TNFAIP3 and CSNK1A1<ref name=":1" />.		The most important genes involved in the development and progress of ATLL are the Tax and HBZ contributed by the HTLV-1 virus and genes listed in gene mutations table (above) from the host. The main pathways involved are TCR-NF-κB signaling by gain of function and amplifications in PLCG1, VAV1 and FYN, CD28, PRKCB, CARD11, IRF4 and RHOA; and loss of function mutations or deletions in CBLB, TRAF, TNFAIP3 and CSNK1A1<ref name=":1" />.

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	Chemokine receptors including CCR4 and CCR7 are responsible for the infiltration of neoplastic cells into other organs along with activation of PI3K/AKT signaling.		Chemokine receptors including CCR4 and CCR7 are responsible for the infiltration of neoplastic cells into other organs along with activation of PI3K/AKT signaling.

	The epigenetic mechanism is also exploited to alter gene expression and promote ATLL progression as explained above.		The epigenetic mechanism is also exploited to alter gene expression and promote ATLL progression as explained above<center><center>
			<center><center>
			<center>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
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	\|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling		\|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
	\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program		\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
	\|-
	\|
	\|
	\|
	\|}		\|}
	==Genetic Diagnostic Testing ~~Methods~~==
	~~<center>~~		== Genetic Diagnostic Testing Method ==
	Initial diagnosis of ATLL should include a comprehensive physical exam with skin evaluation and CT scans of the chest, abdomen and pelvis. The laboratory evaluation should include: a complete blood count (CBC), metabolic panel (serum electrolyte levels, calcium, creatinine and blood urea nitrogen) and serum LDH levels. Testing methods including PCR, Flow Cytometry, ELISA, serology, and immunohistochemistry in addition to morphologic studies may be employed to diagnose ATLL<ref name=":4">NCCN Clinical Practice Guidelines in Oncology, T-Cell Lymphomas, Version 1.2021. Available at NCCN.org.</ref>.		Initial diagnosis of ATLL should include a comprehensive physical exam with skin evaluation and CT scans of the chest, abdomen and pelvis. The laboratory evaluation should include: a complete blood count (CBC), metabolic panel (serum electrolyte levels, calcium, creatinine and blood urea nitrogen) and serum LDH levels. Testing methods including PCR, Flow Cytometry, ELISA, serology, and immunohistochemistry in addition to morphologic studies may be employed to diagnose ATLL<ref name=":4">NCCN Clinical Practice Guidelines in Oncology, T-Cell Lymphomas, Version 1.2021. Available at NCCN.org.</ref>.

	==Familial Forms==		== Familial Forms ==
	<~~center~~>		Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>

			== Additional Information ==
			Put your text here

	Put ~~your text~~ here <span style="color:#0070C0">(''Instructions: ~~Include associated hereditary conditions/syndromes that cause~~ this ~~entity~~ or ~~are caused~~ by ~~this entity~~.'') </span>		== Links ==
			Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki 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>

	==~~Additional Information~~==		== References ==
			<center><references /><center><center><center>
			<center>
			<center><center><center>
			<center>
			<center>
			<center>
	<center>		<center>
	~~Put your text here~~

	~~==Links==~~
	<center>		<center>


	Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki 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>
	~~==References==~~
	<references />		<references />

Sumire.Kitahara at 03:38, 24 September 2025

2025-09-24T03:38:27Z

← Older revision		Revision as of 22:38, 23 September 2025
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	----		----
	==Epigenomic Alterations==		==Epigenomic Alterations==
	<center>		<center><center>
	Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.		Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.

Sumire.Kitahara: /* Epigenomic Alterations */

2025-09-24T03:37:54Z

Epigenomic Alterations

← Older revision		Revision as of 22:37, 23 September 2025
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	----		----
	==Epigenomic Alterations==		==Epigenomic Alterations==
			<center>
	Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.		Epigenetic alterations also result in dysregulated TCR/NF-κB signaling in ATLL. DNA hypermethylation of CpG islands is detected in 1/3<sup>rd</sup> of all ATLL patients. As a result, genes involved in Cys2-His2 (C2H2) zinc finger genes and those encoding MHC class I molecules are silenced<ref name=":1" />.

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	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==
			<center>
	The most important genes involved in the development and progress of ATLL are the Tax and HBZ contributed by the HTLV-1 virus and genes listed in gene mutations table (above) from the host. The main pathways involved are TCR-NF-κB signaling by gain of function and amplifications in PLCG1, VAV1 and FYN, CD28, PRKCB, CARD11, IRF4 and RHOA; and loss of function mutations or deletions in CBLB, TRAF, TNFAIP3 and CSNK1A1<ref name=":1" />.		The most important genes involved in the development and progress of ATLL are the Tax and HBZ contributed by the HTLV-1 virus and genes listed in gene mutations table (above) from the host. The main pathways involved are TCR-NF-κB signaling by gain of function and amplifications in PLCG1, VAV1 and FYN, CD28, PRKCB, CARD11, IRF4 and RHOA; and loss of function mutations or deletions in CBLB, TRAF, TNFAIP3 and CSNK1A1<ref name=":1" />.

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	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
			<center>
	Initial diagnosis of ATLL should include a comprehensive physical exam with skin evaluation and CT scans of the chest, abdomen and pelvis. The laboratory evaluation should include: a complete blood count (CBC), metabolic panel (serum electrolyte levels, calcium, creatinine and blood urea nitrogen) and serum LDH levels. Testing methods including PCR, Flow Cytometry, ELISA, serology, and immunohistochemistry in addition to morphologic studies may be employed to diagnose ATLL<ref name=":4">NCCN Clinical Practice Guidelines in Oncology, T-Cell Lymphomas, Version 1.2021. Available at NCCN.org.</ref>.		Initial diagnosis of ATLL should include a comprehensive physical exam with skin evaluation and CT scans of the chest, abdomen and pelvis. The laboratory evaluation should include: a complete blood count (CBC), metabolic panel (serum electrolyte levels, calcium, creatinine and blood urea nitrogen) and serum LDH levels. Testing methods including PCR, Flow Cytometry, ELISA, serology, and immunohistochemistry in addition to morphologic studies may be employed to diagnose ATLL<ref name=":4">NCCN Clinical Practice Guidelines in Oncology, T-Cell Lymphomas, Version 1.2021. Available at NCCN.org.</ref>.

	==Familial Forms==		==Familial Forms==
			<center>


	Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>		Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>

	==Additional Information==		==Additional Information==
			<center>
	Put your text here		Put your text here

	==Links==		==Links==
			<center>

Sumire.Kitahara: /* Individual Region Genomic Gain/Loss/LOH */

2025-09-24T03:36:15Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 22:36, 23 September 2025
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	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==

	ATLL with high number of chromosomal imbalances is associated with poor survival<ref>{{Cite journal\|last=Itoyama\|first=T.\|last2=Chaganti\|first2=R. S.\|last3=Yamada\|first3=Y.\|last4=Tsukasaki\|first4=K.\|last5=Atogami\|first5=S.\|last6=Nakamura\|first6=H.\|last7=Tomonaga\|first7=M.\|last8=Ohshima\|first8=K.\|last9=Kikuchi\|first9=M.\|date=2001-06-01\|title=Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki\|url=https://pubmed.ncbi.nlm.nih.gov/11369658\|journal=Blood\|volume=97\|issue=11\|pages=3612–3620\|doi=10.1182/blood.v97.11.3612\|issn=0006-4971\|pmid=11369658}}</ref><ref>{{Cite journal\|last=Tsukasaki\|first=K.\|last2=Krebs\|first2=J.\|last3=Nagai\|first3=K.\|last4=Tomonaga\|first4=M.\|last5=Koeffler\|first5=H. P.\|last6=Bartram\|first6=C. R.\|last7=Jauch\|first7=A.\|date=2001-06-15\|title=Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course\|url=https://pubmed.ncbi.nlm.nih.gov/11389029\|journal=Blood\|volume=97\|issue=12\|pages=3875–3881\|doi=10.1182/blood.v97.12.3875\|issn=0006-4971\|pmid=11389029}}</ref><ref name=":0">{{Cite journal\|last=Oshiro\|first=Aya\|last2=Tagawa\|first2=Hiroyuki\|last3=Ohshima\|first3=Koichi\|last4=Karube\|first4=Kennosuke\|last5=Uike\|first5=Naokuni\|last6=Tashiro\|first6=Yukie\|last7=Utsunomiya\|first7=Atae\|last8=Masuda\|first8=Masato\|last9=Takasu\|first9=Nobuyuki\|date=2006-06-01\|title=Identification of subtype-specific genomic alterations in aggressive adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/16484591\|journal=Blood\|volume=107\|issue=11\|pages=4500–4507\|doi=10.1182/blood-2005-09-3801\|issn=0006-4971\|pmid=16484591}}</ref><ref name=":2">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Iwanaga\|first2=Masako\|last3=Yasunaga\|first3=Jun-Ichirou\|last4=Nagata\|first4=Yasunobu\|last5=Kitanaka\|first5=Akira\|last6=Kameda\|first6=Takuro\|last7=Yoshimitsu\|first7=Makoto\|last8=Shiraishi\|first8=Yuichi\|last9=Sato-Otsubo\|first9=Aiko\|date=01 11, 2018\|title=Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/29084771\|journal=Blood\|volume=131\|issue=2\|pages=215–225\|doi=10.1182/blood-2017-01-761874\|issn=1528-0020\|pmc=5757690\|pmid=29084771}}</ref>.		ATLL with high number of chromosomal imbalances is associated with poor survival<ref>{{Cite journal\|last=Itoyama\|first=T.\|last2=Chaganti\|first2=R. S.\|last3=Yamada\|first3=Y.\|last4=Tsukasaki\|first4=K.\|last5=Atogami\|first5=S.\|last6=Nakamura\|first6=H.\|last7=Tomonaga\|first7=M.\|last8=Ohshima\|first8=K.\|last9=Kikuchi\|first9=M.\|date=2001-06-01\|title=Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki\|url=https://pubmed.ncbi.nlm.nih.gov/11369658\|journal=Blood\|volume=97\|issue=11\|pages=3612–3620\|doi=10.1182/blood.v97.11.3612\|issn=0006-4971\|pmid=11369658}}</ref><ref name=":3">{{Cite journal\|last=Tsukasaki\|first=K.\|last2=Krebs\|first2=J.\|last3=Nagai\|first3=K.\|last4=Tomonaga\|first4=M.\|last5=Koeffler\|first5=H. P.\|last6=Bartram\|first6=C. R.\|last7=Jauch\|first7=A.\|date=2001-06-15\|title=Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course\|url=https://pubmed.ncbi.nlm.nih.gov/11389029\|journal=Blood\|volume=97\|issue=12\|pages=3875–3881\|doi=10.1182/blood.v97.12.3875\|issn=0006-4971\|pmid=11389029}}</ref><ref name=":0">{{Cite journal\|last=Oshiro\|first=Aya\|last2=Tagawa\|first2=Hiroyuki\|last3=Ohshima\|first3=Koichi\|last4=Karube\|first4=Kennosuke\|last5=Uike\|first5=Naokuni\|last6=Tashiro\|first6=Yukie\|last7=Utsunomiya\|first7=Atae\|last8=Masuda\|first8=Masato\|last9=Takasu\|first9=Nobuyuki\|date=2006-06-01\|title=Identification of subtype-specific genomic alterations in aggressive adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/16484591\|journal=Blood\|volume=107\|issue=11\|pages=4500–4507\|doi=10.1182/blood-2005-09-3801\|issn=0006-4971\|pmid=16484591}}</ref><ref name=":2">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Iwanaga\|first2=Masako\|last3=Yasunaga\|first3=Jun-Ichirou\|last4=Nagata\|first4=Yasunobu\|last5=Kitanaka\|first5=Akira\|last6=Kameda\|first6=Takuro\|last7=Yoshimitsu\|first7=Makoto\|last8=Shiraishi\|first8=Yuichi\|last9=Sato-Otsubo\|first9=Aiko\|date=01 11, 2018\|title=Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/29084771\|journal=Blood\|volume=131\|issue=2\|pages=215–225\|doi=10.1182/blood-2017-01-761874\|issn=1528-0020\|pmc=5757690\|pmid=29084771}}</ref>.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
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	\|14		\|14
	\|Gain		\|Gain
	\|14q32<ref name=":0" />		\|14q32<ref name=":0" /><ref name=":3" />
	\|		\|
	\|		\|

Sumire.Kitahara: /* Individual Region Genomic Gain/Loss/LOH */

2025-09-24T03:35:22Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 22:35, 23 September 2025
Line 98:		Line 98:
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==

	ATLL with high number of chromosomal imbalances is associated with poor survival<ref>{{Cite journal\|last=Itoyama\|first=T.\|last2=Chaganti\|first2=R. S.\|last3=Yamada\|first3=Y.\|last4=Tsukasaki\|first4=K.\|last5=Atogami\|first5=S.\|last6=Nakamura\|first6=H.\|last7=Tomonaga\|first7=M.\|last8=Ohshima\|first8=K.\|last9=Kikuchi\|first9=M.\|date=2001-06-01\|title=Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki\|url=https://pubmed.ncbi.nlm.nih.gov/11369658\|journal=Blood\|volume=97\|issue=11\|pages=3612–3620\|doi=10.1182/blood.v97.11.3612\|issn=0006-4971\|pmid=11369658}}</ref><ref>{{Cite journal\|last=Tsukasaki\|first=K.\|last2=Krebs\|first2=J.\|last3=Nagai\|first3=K.\|last4=Tomonaga\|first4=M.\|last5=Koeffler\|first5=H. P.\|last6=Bartram\|first6=C. R.\|last7=Jauch\|first7=A.\|date=2001-06-15\|title=Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course\|url=https://pubmed.ncbi.nlm.nih.gov/11389029\|journal=Blood\|volume=97\|issue=12\|pages=3875–3881\|doi=10.1182/blood.v97.12.3875\|issn=0006-4971\|pmid=11389029}}</ref><ref>{{Cite journal\|last=Oshiro\|first=Aya\|last2=Tagawa\|first2=Hiroyuki\|last3=Ohshima\|first3=Koichi\|last4=Karube\|first4=Kennosuke\|last5=Uike\|first5=Naokuni\|last6=Tashiro\|first6=Yukie\|last7=Utsunomiya\|first7=Atae\|last8=Masuda\|first8=Masato\|last9=Takasu\|first9=Nobuyuki\|date=2006-06-01\|title=Identification of subtype-specific genomic alterations in aggressive adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/16484591\|journal=Blood\|volume=107\|issue=11\|pages=4500–4507\|doi=10.1182/blood-2005-09-3801\|issn=0006-4971\|pmid=16484591}}</ref><ref name=":2">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Iwanaga\|first2=Masako\|last3=Yasunaga\|first3=Jun-Ichirou\|last4=Nagata\|first4=Yasunobu\|last5=Kitanaka\|first5=Akira\|last6=Kameda\|first6=Takuro\|last7=Yoshimitsu\|first7=Makoto\|last8=Shiraishi\|first8=Yuichi\|last9=Sato-Otsubo\|first9=Aiko\|date=01 11, 2018\|title=Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/29084771\|journal=Blood\|volume=131\|issue=2\|pages=215–225\|doi=10.1182/blood-2017-01-761874\|issn=1528-0020\|pmc=5757690\|pmid=29084771}}</ref>.		ATLL with high number of chromosomal imbalances is associated with poor survival<ref>{{Cite journal\|last=Itoyama\|first=T.\|last2=Chaganti\|first2=R. S.\|last3=Yamada\|first3=Y.\|last4=Tsukasaki\|first4=K.\|last5=Atogami\|first5=S.\|last6=Nakamura\|first6=H.\|last7=Tomonaga\|first7=M.\|last8=Ohshima\|first8=K.\|last9=Kikuchi\|first9=M.\|date=2001-06-01\|title=Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki\|url=https://pubmed.ncbi.nlm.nih.gov/11369658\|journal=Blood\|volume=97\|issue=11\|pages=3612–3620\|doi=10.1182/blood.v97.11.3612\|issn=0006-4971\|pmid=11369658}}</ref><ref>{{Cite journal\|last=Tsukasaki\|first=K.\|last2=Krebs\|first2=J.\|last3=Nagai\|first3=K.\|last4=Tomonaga\|first4=M.\|last5=Koeffler\|first5=H. P.\|last6=Bartram\|first6=C. R.\|last7=Jauch\|first7=A.\|date=2001-06-15\|title=Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course\|url=https://pubmed.ncbi.nlm.nih.gov/11389029\|journal=Blood\|volume=97\|issue=12\|pages=3875–3881\|doi=10.1182/blood.v97.12.3875\|issn=0006-4971\|pmid=11389029}}</ref><ref name=":0">{{Cite journal\|last=Oshiro\|first=Aya\|last2=Tagawa\|first2=Hiroyuki\|last3=Ohshima\|first3=Koichi\|last4=Karube\|first4=Kennosuke\|last5=Uike\|first5=Naokuni\|last6=Tashiro\|first6=Yukie\|last7=Utsunomiya\|first7=Atae\|last8=Masuda\|first8=Masato\|last9=Takasu\|first9=Nobuyuki\|date=2006-06-01\|title=Identification of subtype-specific genomic alterations in aggressive adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/16484591\|journal=Blood\|volume=107\|issue=11\|pages=4500–4507\|doi=10.1182/blood-2005-09-3801\|issn=0006-4971\|pmid=16484591}}</ref><ref name=":2">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Iwanaga\|first2=Masako\|last3=Yasunaga\|first3=Jun-Ichirou\|last4=Nagata\|first4=Yasunobu\|last5=Kitanaka\|first5=Akira\|last6=Kameda\|first6=Takuro\|last7=Yoshimitsu\|first7=Makoto\|last8=Shiraishi\|first8=Yuichi\|last9=Sato-Otsubo\|first9=Aiko\|date=01 11, 2018\|title=Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/29084771\|journal=Blood\|volume=131\|issue=2\|pages=215–225\|doi=10.1182/blood-2017-01-761874\|issn=1528-0020\|pmc=5757690\|pmid=29084771}}</ref>.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 120:		Line 120:
	\|		\|
	\|No		\|No
	\|1q gains common in lymphoma-type ATLL		\|1q gains common in lymphoma-type ATLL<ref name=":0" />
	\|-		\|-
	\|2		\|2
Line 196:		Line 196:
	\|14		\|14
	\|Gain		\|Gain
	\|~~14q~~		\|14q32<ref name=":0" />
	\|		\|
	\|		\|

Sumire.Kitahara: /* Gene Rearrangements */

2025-09-24T03:10:56Z

Gene Rearrangements

@@ Line 67: / Line 67: @@
 |No
 |Highlights immune-evasion axis and immune checkpoint biology, but PD-1 blockade has shown harm and induced rapid progression in ATLL<ref>{{Cite journal|last=Rauch|first=Daniel A.|last2=Conlon|first2=Kevin C.|last3=Janakiram|first3=Murali|last4=Brammer|first4=Jonathan E.|last5=Harding|first5=John C.|last6=Ye|first6=B. Hilda|last7=Zang|first7=Xingxing|last8=Ren|first8=Xiaoxin|last9=Olson|first9=Sydney|date=2019-10-24|title=Rapid progression of adult T-cell leukemia/lymphoma as tumor-infiltrating Tregs after PD-1 blockade|url=https://pubmed.ncbi.nlm.nih.gov/31467059|journal=Blood|volume=134|issue=17|pages=1406–1414|doi=10.1182/blood.2019002038|issn=1528-0020|pmc=6839957|pmid=31467059}}</ref>
 |-
 |''CD28''
@@ Line 77: / Line 86: @@
 |No
 |Potential for CTLA4 blockade as treatment when CD28 fusions are present
 |-
 |''BCL11B''

Sumire.Kitahara: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-09-24T03:00:02Z

Characteristic Chromosomal or Other Global Mutational Patterns

← Older revision		Revision as of 22:00, 23 September 2025
Line 220:		Line 220:
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==

	Cytogenetic studies show that ATLL ~~ofte~~<ref name=":1">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Nagata\|first2=Yasunobu\|last3=Kitanaka\|first3=Akira\|last4=Shiraishi\|first4=Yuichi\|last5=Shimamura\|first5=Teppei\|last6=Yasunaga\|first6=Jun-Ichirou\|last7=Totoki\|first7=Yasushi\|last8=Chiba\|first8=Kenichi\|last9=Sato-Otsubo\|first9=Aiko\|date=2015-11\|title=Integrated molecular analysis of adult T cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/26437031\|journal=Nature Genetics\|volume=47\|issue=11\|pages=1304–1315\|doi=10.1038/ng.3415\|issn=1546-1718\|pmid=26437031}}</ref>n has a complex abnormal karyotype without a single distinct abnormality. Observed recurrent abnormalities include trisomy for 3, 7 or 21 and monosomy for X as well as deletion of Y and abnormalities of chromosome 6 and 14. Chromosome 14 rearrangements involving TCRA and TCRD at 14q11 and TCL1 at 14q32 have been documented<ref>{{Cite journal\|date=1987-11\|title=Correlation of chromosome abnormalities with histologic and immunologic characteristics in non-Hodgkin's lymphoma and adult T cell leukemia-lymphoma. Fifth International Workshop on Chromosomes in Leukemia-Lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/2889485\|journal=Blood\|volume=70\|issue=5\|pages=1554–1564\|issn=0006-4971\|pmid=2889485}}</ref>. Frequent deletions in known fragile sites have been detected in over 500 patients.		Cytogenetic studies show that ATLL often<ref name=":1">{{Cite journal\|last=Kataoka\|first=Keisuke\|last2=Nagata\|first2=Yasunobu\|last3=Kitanaka\|first3=Akira\|last4=Shiraishi\|first4=Yuichi\|last5=Shimamura\|first5=Teppei\|last6=Yasunaga\|first6=Jun-Ichirou\|last7=Totoki\|first7=Yasushi\|last8=Chiba\|first8=Kenichi\|last9=Sato-Otsubo\|first9=Aiko\|date=2015-11\|title=Integrated molecular analysis of adult T cell leukemia/lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/26437031\|journal=Nature Genetics\|volume=47\|issue=11\|pages=1304–1315\|doi=10.1038/ng.3415\|issn=1546-1718\|pmid=26437031}}</ref> has a complex abnormal karyotype without a single distinct abnormality. Observed recurrent abnormalities include trisomy for 3, 7 or 21 and monosomy for X as well as deletion of Y and abnormalities of chromosome 6 and 14. Chromosome 14 rearrangements involving TCRA and TCRD at 14q11 and TCL1 at 14q32 have been documented<ref>{{Cite journal\|date=1987-11\|title=Correlation of chromosome abnormalities with histologic and immunologic characteristics in non-Hodgkin's lymphoma and adult T cell leukemia-lymphoma. Fifth International Workshop on Chromosomes in Leukemia-Lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/2889485\|journal=Blood\|volume=70\|issue=5\|pages=1554–1564\|issn=0006-4971\|pmid=2889485}}</ref>. Frequent deletions in known fragile sites have been detected in over 500 patients.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 231:		Line 231:
	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|~~<span class="blue~~-~~text">EXAMPLE:</span>~~		\|Trisomy 3, 7 or 21
	Co-~~deletion of 1p and 18q~~		\|
	\|~~<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).~~		\|
	\|~~<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)~~		\|
	\|~~<span class="blue-text">EXAMPLE:</span> D, P~~		\|
			\|
			\|-
			\|Monosomy X
			\|
			\|
			\|
			\|
			\|
			\|-
			\|Deletion Y
			\|
			\|
			\|
	\|		\|
	\|		\|
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|Abnormalities of chromosome 6 and 14
	~~Microsatellite instability - hypermutated~~		\|
			\|
	\|		\|
	~~\|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)~~
	~~\|<span class="blue-text">EXAMPLE:</span> P, T~~
	\|		\|
	\|		\|
	\|-		\|-
			\|
			\|
			\|
	\|		\|
	\|		\|

Sumire.Kitahara: /* Individual Region Genomic Gain/Loss/LOH */

2025-09-24T02:56:26Z

Individual Region Genomic Gain/Loss/LOH

@@ Line 218: / Line 218: @@
+|
 |}
 ==Characteristic Chromosomal or Other Global Mutational Patterns==

Sumire.Kitahara: /* Individual Region Genomic Gain/Loss/LOH */

2025-09-24T02:54:16Z

Individual Region Genomic Gain/Loss/LOH

@@ Line 122: / Line 122: @@
 |1q gains common in lymphoma-type ATLL
 |-
+|
+|
+|
+|
+|