HAEM5:Subcutaneous panniculitis-like T-cell lymphoma - Revision history

Sumire.Kitahara at 21:33, 6 January 2026

2026-01-06T21:33:25Z

Sumire.Kitahara: /* Genes and Main Pathways Involved */

2026-01-06T21:13:04Z

Genes and Main Pathways Involved

← Older revision		Revision as of 16:13, 6 January 2026
Line 1:		Line 1:
	{{DISPLAYTITLE:Subcutaneous panniculitis-like T-cell lymphoma}}		{{DISPLAYTITLE:Subcutaneous panniculitis-like T-cell lymphoma}}
	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

	~~{{Under Construction}}~~

	<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)</span>

	==Primary Author(s)*==		==Primary Author(s)*==


	Ian King, PhD		Ian King, PhD
Line 122:		Line 117:
	!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome		!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
	\|-		\|-
	\|ARID1B<ref name=":0" /><ref name=":2" />, SMARCA4<ref name=":0" /><ref name=":2" />, NCOR1<ref name=":0" /><ref name=":2" />, KMT2C<ref name=":2" />, KMT2D<ref name=":2" />, DOTIL<ref name=":0" /><ref name=":2" />, CHD3<ref name=":0" /><ref name=":2" /><ref name=":4">{{Cite journal\|last=Koh\|first=Jiwon\|last2=Jang\|first2=Insoon\|last3=Mun\|first3=Seungchan\|last4=Lee\|first4=Cheol\|last5=Cha\|first5=Hee Jeong\|last6=Oh\|first6=Young Ha\|last7=Kim\|first7=Jin-Man\|last8=Han\|first8=Jae Ho\|last9=Paik\|first9=Jin Ho\|date=2021-10-26\|title=Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations\|url=https://pubmed.ncbi.nlm.nih.gov/34535012\|journal=Blood Advances\|volume=5\|issue=20\|pages=3919–3930\|doi=10.1182/bloodadvances.2021004562\|issn=2473-9537\|pmc=8945616\|pmid=34535012}}</ref>, CHD4<ref name=":0" /><ref name=":2" />, PBRM1<ref name=":2" />, CREBBP<ref name=":0" /><ref name=":2" />, ASXL1<ref name=":0" /><ref name=":2" /><ref name=":4" />, MBD1<ref name=":2" />, KMT2B<ref name=":0" /><ref name=":2" />, HIST1H3J<ref name=":2" />, CDC27<ref name=":4" />, TET2<ref name=":0" /><ref name=":4" />		\|ARID1B<ref name=":0" /><ref name=":2" />, SMARCA4<ref name=":0" /><ref name=":2" />, NCOR1<ref name=":0" /><ref name=":2" />, KMT2C<ref name=":2" />, KMT2D<ref name=":2" />,
			DOTIL<ref name=":0" /><ref name=":2" />, CHD3<ref name=":0" /><ref name=":2" /><ref name=":4">{{Cite journal\|last=Koh\|first=Jiwon\|last2=Jang\|first2=Insoon\|last3=Mun\|first3=Seungchan\|last4=Lee\|first4=Cheol\|last5=Cha\|first5=Hee Jeong\|last6=Oh\|first6=Young Ha\|last7=Kim\|first7=Jin-Man\|last8=Han\|first8=Jae Ho\|last9=Paik\|first9=Jin Ho\|date=2021-10-26\|title=Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations\|url=https://pubmed.ncbi.nlm.nih.gov/34535012\|journal=Blood Advances\|volume=5\|issue=20\|pages=3919–3930\|doi=10.1182/bloodadvances.2021004562\|issn=2473-9537\|pmc=8945616\|pmid=34535012}}</ref>, CHD4<ref name=":0" /><ref name=":2" />, PBRM1<ref name=":2" />, CREBBP<ref name=":0" /><ref name=":2" />,
			ASXL1<ref name=":0" /><ref name=":2" /><ref name=":4" />, MBD1<ref name=":2" />, KMT2B<ref name=":0" /><ref name=":2" />, HIST1H3J<ref name=":2" />, CDC27<ref name=":4" />, TET2<ref name=":0" /><ref name=":4" />
	\|Epigenetic modifiers<ref name=":2" /><ref name=":4" />		\|Epigenetic modifiers<ref name=":2" /><ref name=":4" />
	\|Unregulated cell division		\|Unregulated cell division

Katelyn.Swanson at 16:22, 19 December 2025

2025-12-19T16:22:24Z

← Older revision		Revision as of 11:22, 19 December 2025
Line 143:		Line 143:
	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
	'''Molecular ~~Genetic~~ Testing'''		'''Molecular Testing to detect detect clonal TCRB rearrangements:'''

	# Polymerase Chain Reaction (PCR) ~~and droplet digital PCR (ddPCR): To confirm or detect presence of the HAVCR2 p.Y82C variant and detection of TCRB rearrangements~~ '''(major diagnostic criteria)'''.		# Polymerase Chain Reaction (PCR) fragment analysis '''(major diagnostic criteria)'''<ref name=":6" />
	# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing.
			'''Molecular Genetic Testing for HAVCR2 variants:'''

			# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing.
	# Sanger sequencing- to confirm or detect HAVCR2 mutations.		# Sanger sequencing- to confirm or detect HAVCR2 mutations.
			# Droplet digital PCR (ddPCR): to confirm or detect presence of the HAVCR2 p.Y82C variant<ref>{{Cite journal\|last=Cheng\|first=Jinjun\|last2=Xi\|first2=Liqiang\|last3=Jang\|first3=Yoon\|last4=Kim\|first4=Jung\|last5=Wang\|first5=Hao-Wei\|last6=Pittaluga\|first6=Stefania\|last7=Jaffe\|first7=Elaine S.\|last8=Raffeld\|first8=Mark\|date=2024-10-01\|title=An investigation of germline variants of HAVCR2 in subcutaneous panniculitis-like T-cell lymphoma and related lesions in a North American population\|url=https://pubmed.ncbi.nlm.nih.gov/38867583\|journal=Haematologica\|volume=109\|issue=10\|pages=3363–3367\|doi=10.3324/haematol.2023.284738\|issn=1592-8721\|pmc=11443401\|pmid=38867583}}</ref>

	==Familial Forms==		==Familial Forms==

Katelyn.Swanson at 16:20, 18 December 2025

2025-12-18T16:20:17Z

← Older revision		Revision as of 11:20, 18 December 2025
Line 143:		Line 143:
	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
	~~PCR~~		'''Molecular Genetic Testing'''

	NGS		# Polymerase Chain Reaction (PCR) and droplet digital PCR (ddPCR): To confirm or detect presence of the HAVCR2 p.Y82C variant and detection of TCRB rearrangements '''(major diagnostic criteria)'''.
			# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing.
			# Sanger sequencing- to confirm or detect HAVCR2 mutations.

	~~WES~~

	~~Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>~~
	==Familial Forms==		==Familial Forms==
	Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.<ref name=":1" /><ref name=":0" /><ref name=":4" />		Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.<ref name=":1" /><ref name=":0" /><ref name=":4" />
Line 157:		Line 156:
	''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":5" /><ref name=":6">{{Cite journal\|last=Parveen\|first=Zahida\|last2=Thompson\|first2=Karen\|date=2009-02\|title=Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas\|url=https://pubmed.ncbi.nlm.nih.gov/19195975\|journal=Archives of Pathology & Laboratory Medicine\|volume=133\|issue=2\|pages=303–308\|doi=10.5858/133.2.303\|issn=1543-2165\|pmid=19195975}}</ref>. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />		''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":5" /><ref name=":6">{{Cite journal\|last=Parveen\|first=Zahida\|last2=Thompson\|first2=Karen\|date=2009-02\|title=Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas\|url=https://pubmed.ncbi.nlm.nih.gov/19195975\|journal=Archives of Pathology & Laboratory Medicine\|volume=133\|issue=2\|pages=303–308\|doi=10.5858/133.2.303\|issn=1543-2165\|pmid=19195975}}</ref>. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />

	~~Subcutaneous~~ panniculitis like T-cell lymphoma is ~~defined with~~ an ~~alphabeta~~ T-cell receptor rearrangement<ref name=":6" />.		A major diagnostic criteria for subcutaneous panniculitis like T-cell lymphoma is presence of an αβ T-cell receptor rearrangement and absence of the λδ T-cell receptor rearrangement. <ref name=":6" />.

	==Links==		==Links==

Katelyn.Swanson at 15:29, 18 December 2025

2025-12-18T15:29:51Z

← Older revision		Revision as of 10:29, 18 December 2025
Line 143:		Line 143:
	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
			PCR

			NGS

			WES

	Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>		Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
	==Familial Forms==		==Familial Forms==
Line 149:		Line 155:
	Subcutaneous panniculitis like T-cell lymphoma may be triggered or associated with viral etiologies including human immunodeficiency virus (HIV)<ref name=":0" />; with one case being reported after vaccination for SarsCoV2<ref>{{Cite journal\|last=Kreher\|first=Margaret Ann\|last2=Ahn\|first2=John\|last3=Werbel\|first3=Tyler\|last4=Motaparthi\|first4=Kiran\|date=2022-10\|title=Subcutaneous panniculitis-like T-cell lymphoma after COVID-19 vaccination\|url=https://pubmed.ncbi.nlm.nih.gov/35966352\|journal=JAAD case reports\|volume=28\|pages=18–20\|doi=10.1016/j.jdcr.2022.08.006\|issn=2352-5126\|pmc=9364717\|pmid=35966352}}</ref>. Typically, this entity is Epstein-Barr virus negative; however, it is rarely detected in Asian populations<ref name=":5">{{Cite journal\|last=Kong\|first=Yun-yi\|last2=Dai\|first2=Bo\|last3=Kong\|first3=Jin-cheng\|last4=Zhou\|first4=Xiao-yan\|last5=Lu\|first5=Hong-fen\|last6=Shen\|first6=Lei\|last7=Du\|first7=Xiang\|last8=Shi\|first8=Da-ren\|date=2008-10\|title=Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathologic, immunophenotypic, and molecular study of 22 Asian cases according to WHO-EORTC classification\|url=https://pubmed.ncbi.nlm.nih.gov/18708940\|journal=The American Journal of Surgical Pathology\|volume=32\|issue=10\|pages=1495–1502\|doi=10.1097/PAS.0b013e31817a9081\|issn=1532-0979\|pmid=18708940}}</ref>. Association with autoimmune conditions such as systemic lupus erythematous have also been reported<ref name=":0" />.		Subcutaneous panniculitis like T-cell lymphoma may be triggered or associated with viral etiologies including human immunodeficiency virus (HIV)<ref name=":0" />; with one case being reported after vaccination for SarsCoV2<ref>{{Cite journal\|last=Kreher\|first=Margaret Ann\|last2=Ahn\|first2=John\|last3=Werbel\|first3=Tyler\|last4=Motaparthi\|first4=Kiran\|date=2022-10\|title=Subcutaneous panniculitis-like T-cell lymphoma after COVID-19 vaccination\|url=https://pubmed.ncbi.nlm.nih.gov/35966352\|journal=JAAD case reports\|volume=28\|pages=18–20\|doi=10.1016/j.jdcr.2022.08.006\|issn=2352-5126\|pmc=9364717\|pmid=35966352}}</ref>. Typically, this entity is Epstein-Barr virus negative; however, it is rarely detected in Asian populations<ref name=":5">{{Cite journal\|last=Kong\|first=Yun-yi\|last2=Dai\|first2=Bo\|last3=Kong\|first3=Jin-cheng\|last4=Zhou\|first4=Xiao-yan\|last5=Lu\|first5=Hong-fen\|last6=Shen\|first6=Lei\|last7=Du\|first7=Xiang\|last8=Shi\|first8=Da-ren\|date=2008-10\|title=Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathologic, immunophenotypic, and molecular study of 22 Asian cases according to WHO-EORTC classification\|url=https://pubmed.ncbi.nlm.nih.gov/18708940\|journal=The American Journal of Surgical Pathology\|volume=32\|issue=10\|pages=1495–1502\|doi=10.1097/PAS.0b013e31817a9081\|issn=1532-0979\|pmid=18708940}}</ref>. Association with autoimmune conditions such as systemic lupus erythematous have also been reported<ref name=":0" />.

	''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":1" /><ref name=":5" />. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />		''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":5" /><ref name=":6">{{Cite journal\|last=Parveen\|first=Zahida\|last2=Thompson\|first2=Karen\|date=2009-02\|title=Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas\|url=https://pubmed.ncbi.nlm.nih.gov/19195975\|journal=Archives of Pathology & Laboratory Medicine\|volume=133\|issue=2\|pages=303–308\|doi=10.5858/133.2.303\|issn=1543-2165\|pmid=19195975}}</ref>. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />

			Subcutaneous panniculitis like T-cell lymphoma is defined with an alphabeta T-cell receptor rearrangement<ref name=":6" />.

	==Links==		==Links==

Katelyn.Swanson at 15:20, 18 December 2025

2025-12-18T15:20:20Z

← Older revision		Revision as of 10:20, 18 December 2025
Line 145:		Line 145:
	Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>		Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
	==Familial Forms==		==Familial Forms==
	~~Germline~~ mutations in HAVCR2 ~~Hereditary germline mutations Autosomal~~ recessive ~~Familial disease~~ in East Asian ~~population~~: ~~recessive. Hereditary form is Associated with severe HLH?.~~		Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.<ref name=":1" /><ref name=":0" /><ref name=":4" />
	==Additional Information==		==Additional Information==
	~~Suggestions that this entity is~~ triggered by viral etiologies (~~EBV~~/COVID-19~~) or are associated~~ with autoimmune conditions ~~like HIV and~~ systemic lupus erythematous ~~can trigger~~		Subcutaneous panniculitis like T-cell lymphoma may be triggered or associated with viral etiologies including human immunodeficiency virus (HIV)<ref name=":0" />; with one case being reported after vaccination for SarsCoV2<ref>{{Cite journal\|last=Kreher\|first=Margaret Ann\|last2=Ahn\|first2=John\|last3=Werbel\|first3=Tyler\|last4=Motaparthi\|first4=Kiran\|date=2022-10\|title=Subcutaneous panniculitis-like T-cell lymphoma after COVID-19 vaccination\|url=https://pubmed.ncbi.nlm.nih.gov/35966352\|journal=JAAD case reports\|volume=28\|pages=18–20\|doi=10.1016/j.jdcr.2022.08.006\|issn=2352-5126\|pmc=9364717\|pmid=35966352}}</ref>. Typically, this entity is Epstein-Barr virus negative; however, it is rarely detected in Asian populations<ref name=":5">{{Cite journal\|last=Kong\|first=Yun-yi\|last2=Dai\|first2=Bo\|last3=Kong\|first3=Jin-cheng\|last4=Zhou\|first4=Xiao-yan\|last5=Lu\|first5=Hong-fen\|last6=Shen\|first6=Lei\|last7=Du\|first7=Xiang\|last8=Shi\|first8=Da-ren\|date=2008-10\|title=Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathologic, immunophenotypic, and molecular study of 22 Asian cases according to WHO-EORTC classification\|url=https://pubmed.ncbi.nlm.nih.gov/18708940\|journal=The American Journal of Surgical Pathology\|volume=32\|issue=10\|pages=1495–1502\|doi=10.1097/PAS.0b013e31817a9081\|issn=1532-0979\|pmid=18708940}}</ref>. Association with autoimmune conditions such as systemic lupus erythematous have also been reported<ref name=":0" />.

			''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":1" /><ref name=":5" />. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />
	==Links==		==Links==

Katelyn.Swanson at 14:42, 18 December 2025

2025-12-18T14:42:32Z

← Older revision		Revision as of 09:42, 18 December 2025
Line 134:		Line 134:
	\|Unregulated cell division		\|Unregulated cell division
	\|-		\|-
	~~\|TP53<ref name=":2" />; loss of tumor suppression~~
	\|TP53<ref name=":2" />		\|TP53<ref name=":2" />
			\|Tumor suppression<ref name=":2" />
	\|Increased cell growth and proliferation		\|Increased cell growth and proliferation
	\|-		\|-
	\|NAV3<ref name=":0" /><ref name=":2" /><ref name=":4" /> ~~; microtubule dysfunction leading to unregulated cell growth~~		\|NAV3<ref name=":0" /><ref name=":2" /><ref name=":4" />
	\|		\|Microtubule activity and tumor suppression<ref name=":4" />
	\|		\|Increased cell growth and proliferation
	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
	Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>		Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
	==Familial Forms==		==Familial Forms==
	Hereditary germline mutations Autosomal recessive Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?.		Germline mutations in HAVCR2 Hereditary germline mutations Autosomal recessive Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?.
	==Additional Information==		==Additional Information==
	Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) or are associated with autoimmune conditions like HIV and systemic lupus erythematous can trigger		Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) or are associated with autoimmune conditions like HIV and systemic lupus erythematous can trigger

Katelyn.Swanson at 14:16, 18 December 2025

2025-12-18T14:16:34Z

← Older revision		Revision as of 09:16, 18 December 2025
Line 10:		Line 10:

	Ian King, PhD		Ian King, PhD

			Katelyn Swanson, DO
	==WHO Classification of Disease==		==WHO Classification of Disease==

Line 44:		Line 46:

	==Gene Rearrangements==		==Gene Rearrangements==
	Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: 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>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 63:		Line 64:
	\|}		\|}
	==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>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 80:		Line 80:
	\|}		\|}
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==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>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 99:		Line 98:
	\|}		\|}
	==Gene Mutations (SNV/INDEL)==		==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>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 110:		Line 108:
	\|HAVCR2		\|HAVCR2

	~~<br />~~
	\|Specific missense loss of function <ref name=":1">{{Cite journal\|last=Gayden\|first=Tenzin\|last2=Sepulveda\|first2=Fernando E.\|last3=Khuong-Quang\|first3=Dong-Anh\|last4=Pratt\|first4=Jonathan\|last5=Valera\|first5=Elvis T.\|last6=Garrigue\|first6=Alexandrine\|last7=Kelso\|first7=Susan\|last8=Sicheri\|first8=Frank\|last9=Mikael\|first9=Leonie G.\|date=2018-12\|title=Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/30374066\|journal=Nature Genetics\|volume=50\|issue=12\|pages=1650–1657\|doi=10.1038/s41588-018-0251-4\|issn=1546-1718\|pmid=30374066}}</ref>		\|Specific missense loss of function <ref name=":1">{{Cite journal\|last=Gayden\|first=Tenzin\|last2=Sepulveda\|first2=Fernando E.\|last3=Khuong-Quang\|first3=Dong-Anh\|last4=Pratt\|first4=Jonathan\|last5=Valera\|first5=Elvis T.\|last6=Garrigue\|first6=Alexandrine\|last7=Kelso\|first7=Susan\|last8=Sicheri\|first8=Frank\|last9=Mikael\|first9=Leonie G.\|date=2018-12\|title=Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/30374066\|journal=Nature Genetics\|volume=50\|issue=12\|pages=1650–1657\|doi=10.1038/s41588-018-0251-4\|issn=1546-1718\|pmid=30374066}}</ref>
	\|Tumor suppressor		\|Tumor suppressor
	\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />		\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />
	\|May have prognostic and therapeutic significance in patients presenting with hemophagocytic syndromes.<ref name=":3">{{Cite journal\|last=Sonigo\|first=Gabrielle\|last2=Battistella\|first2=Maxime\|last3=Beylot-Barry\|first3=Marie\|last4=Ingen-Housz-Oro\|first4=Saskia\|last5=Franck\|first5=Nathalie\|last6=Barete\|first6=Stéphane\|last7=Boulinguez\|first7=Serge\|last8=Dereure\|first8=Olivier\|last9=Bonnet\|first9=Nathalie\|date=2020-03-26\|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/32005988\|journal=Blood\|volume=135\|issue=13\|pages=1058–1061\|doi=10.1182/blood.2019003811\|issn=1528-0020\|pmid=32005988}}</ref>		\|May have prognostic and therapeutic significance in patients presenting with severe hemophagocytic syndromes.<ref name=":3">{{Cite journal\|last=Sonigo\|first=Gabrielle\|last2=Battistella\|first2=Maxime\|last3=Beylot-Barry\|first3=Marie\|last4=Ingen-Housz-Oro\|first4=Saskia\|last5=Franck\|first5=Nathalie\|last6=Barete\|first6=Stéphane\|last7=Boulinguez\|first7=Serge\|last8=Dereure\|first8=Olivier\|last9=Bonnet\|first9=Nathalie\|date=2020-03-26\|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/32005988\|journal=Blood\|volume=135\|issue=13\|pages=1058–1061\|doi=10.1182/blood.2019003811\|issn=1528-0020\|pmid=32005988}}</ref>
	\|No		\|Not applicable
	\|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" /><ref name=":3" />		\|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" /><ref name=":3" />
	\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.		\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Line 121:		Line 118:
	None currently identified.		None currently identified.
	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==
	~~Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>~~
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome		!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
	\|-		\|-
	\|ARID1B, SMARCA4, NCOR1, KMT2C, KMT2D, DOTIL, CHD3, CHD4, PBRM1, CREBBP, ASXL1, MBD1, KMT2B, HIST1H3J		\|ARID1B<ref name=":0" /><ref name=":2" />, SMARCA4<ref name=":0" /><ref name=":2" />, NCOR1<ref name=":0" /><ref name=":2" />, KMT2C<ref name=":2" />, KMT2D<ref name=":2" />, DOTIL<ref name=":0" /><ref name=":2" />, CHD3<ref name=":0" /><ref name=":2" /><ref name=":4">{{Cite journal\|last=Koh\|first=Jiwon\|last2=Jang\|first2=Insoon\|last3=Mun\|first3=Seungchan\|last4=Lee\|first4=Cheol\|last5=Cha\|first5=Hee Jeong\|last6=Oh\|first6=Young Ha\|last7=Kim\|first7=Jin-Man\|last8=Han\|first8=Jae Ho\|last9=Paik\|first9=Jin Ho\|date=2021-10-26\|title=Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations\|url=https://pubmed.ncbi.nlm.nih.gov/34535012\|journal=Blood Advances\|volume=5\|issue=20\|pages=3919–3930\|doi=10.1182/bloodadvances.2021004562\|issn=2473-9537\|pmc=8945616\|pmid=34535012}}</ref>, CHD4<ref name=":0" /><ref name=":2" />, PBRM1<ref name=":2" />, CREBBP<ref name=":0" /><ref name=":2" />, ASXL1<ref name=":0" /><ref name=":2" /><ref name=":4" />, MBD1<ref name=":2" />, KMT2B<ref name=":0" /><ref name=":2" />, HIST1H3J<ref name=":2" />, CDC27<ref name=":4" />, TET2<ref name=":0" /><ref name=":4" />
	\|Epigenetic modifiers<ref name=":2" />		\|Epigenetic modifiers<ref name=":2" /><ref name=":4" />
	\|Unregulated cell division		\|Unregulated cell division
	\|-		\|-
	\|TSC1, MTOR, PIK3CB, PIK3CA, PIK3CD~~, TSC2~~, AKT2		\|TSC1<ref name=":0" /><ref name=":2" />, TSC2<ref name=":0" /><ref name=":2" />, MTOR<ref name=":0" /><ref name=":2" />, PIK3CB<ref name=":0" /><ref name=":2" />, PIK3CA<ref name=":0" /><ref name=":2" />, PIK3CD<ref name=":0" /><ref name=":2" />, AKT2<ref name=":2" />
	\|PI3K/AKT/mTOR pathway<ref name=":2">{{Cite journal\|last=Li\|first=Zhaoming\|last2=Lu\|first2=Lisha\|last3=Zhou\|first3=Zhiyuan\|last4=Xue\|first4=Weili\|last5=Wang\|first5=Yingjun\|last6=Jin\|first6=Mengyuan\|last7=Qiu\|first7=Yajuan\|last8=Sun\|first8=Wei\|last9=Fu\|first9=Xuefei\|date=2018-05\|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/28294301\|journal=British Journal of Haematology\|volume=181\|issue=3\|pages=406–410\|doi=10.1111/bjh.14611\|issn=1365-2141\|pmid=28294301}}</ref>		\|PI3K/AKT/mTOR pathway<ref name=":0" /><ref name=":2">{{Cite journal\|last=Li\|first=Zhaoming\|last2=Lu\|first2=Lisha\|last3=Zhou\|first3=Zhiyuan\|last4=Xue\|first4=Weili\|last5=Wang\|first5=Yingjun\|last6=Jin\|first6=Mengyuan\|last7=Qiu\|first7=Yajuan\|last8=Sun\|first8=Wei\|last9=Fu\|first9=Xuefei\|date=2018-05\|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/28294301\|journal=British Journal of Haematology\|volume=181\|issue=3\|pages=406–410\|doi=10.1111/bjh.14611\|issn=1365-2141\|pmid=28294301}}</ref>
	\|Increased cell growth and proliferation		\|Increased cell growth and proliferation
	\|-		\|-
	\|''IL7R, JAK3, STAT3''		\|''IL7R''<ref name=":0" /><ref name=":2" />'', JAK3''<ref name=":0" /><ref name=":2" /><ref name=":4" />'', STAT3''<ref name=":0" /><ref name=":2" />'', PIAS3''<ref name=":4" />
	\|JAK3/STAT pathway<ref name=":2" />		\|JAK3/STAT pathway<ref name=":0" /><ref name=":2" />
	\|Unregulated cell division		\|Unregulated cell division
	\|-		\|-
	\|TP53 ~~and NAV3~~; loss of tumor suppression		\|TP53<ref name=":2" />; loss of tumor suppression
	\|TP53		\|TP53<ref name=":2" />
	\|Increased cell growth and proliferation		\|Increased cell growth and proliferation
	\|-		\|-
	\|		\|NAV3<ref name=":0" /><ref name=":2" /><ref name=":4" /> ; microtubule dysfunction leading to unregulated cell growth
	\|		\|
	\|		\|
Line 149:		Line 145:
	Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>		Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
	==Familial Forms==		==Familial Forms==
	Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?. ~~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>~~		Hereditary germline mutations Autosomal recessive Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?.
	==Additional Information==		==Additional Information==
	Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19)~~. Put your text here~~		Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) or are associated with autoimmune conditions like HIV and systemic lupus erythematous can trigger
	==Links==		==Links==

Katelyn.Swanson at 18:31, 15 December 2025

2025-12-15T18:31:20Z

← Older revision		Revision as of 13:31, 15 December 2025
Line 114:		Line 114:
	\|Tumor suppressor		\|Tumor suppressor
	\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />		\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />
	\|May have prognostic and therapeutic significance in patients presenting with hemophagocytic syndromes.<ref>{{Cite journal\|last=Sonigo\|first=Gabrielle\|last2=Battistella\|first2=Maxime\|last3=Beylot-Barry\|first3=Marie\|last4=Ingen-Housz-Oro\|first4=Saskia\|last5=Franck\|first5=Nathalie\|last6=Barete\|first6=Stéphane\|last7=Boulinguez\|first7=Serge\|last8=Dereure\|first8=Olivier\|last9=Bonnet\|first9=Nathalie\|date=2020-03-26\|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/32005988\|journal=Blood\|volume=135\|issue=13\|pages=1058–1061\|doi=10.1182/blood.2019003811\|issn=1528-0020\|pmid=32005988}}</ref>		\|May have prognostic and therapeutic significance in patients presenting with hemophagocytic syndromes.<ref name=":3">{{Cite journal\|last=Sonigo\|first=Gabrielle\|last2=Battistella\|first2=Maxime\|last3=Beylot-Barry\|first3=Marie\|last4=Ingen-Housz-Oro\|first4=Saskia\|last5=Franck\|first5=Nathalie\|last6=Barete\|first6=Stéphane\|last7=Boulinguez\|first7=Serge\|last8=Dereure\|first8=Olivier\|last9=Bonnet\|first9=Nathalie\|date=2020-03-26\|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/32005988\|journal=Blood\|volume=135\|issue=13\|pages=1058–1061\|doi=10.1182/blood.2019003811\|issn=1528-0020\|pmid=32005988}}</ref>
	\|No		\|No
	\|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" />		\|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" /><ref name=":3" />
	\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.		\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
	==Epigenomic Alterations==		==Epigenomic Alterations==

Katelyn.Swanson at 18:27, 15 December 2025

2025-12-15T18:27:19Z

← Older revision		Revision as of 13:27, 15 December 2025
Line 52:		Line 52:
	!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> ''ABL1''~~
	~~\|<span class="blue-text">EXAMPLE:</span> N/A~~
	\|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
	~~\|<span class="blue-text">EXAMPLE:</span> N/A~~
	~~\|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)~~
	~~\|<span class="blue-text">EXAMPLE:</span> D, P, T~~
	\|
	\|
	\|-		\|-
	\|		\|
Line 79:		Line 70:
	!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>~~
	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.~~
	\|-		\|-
	\|		\|
Line 135:		Line 114:
	\|Tumor suppressor		\|Tumor suppressor
	\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />		\|Common >20%, <ref name=":0">{{Cite journal\|last=Polprasert\|first=Chantana\|last2=Takeuchi\|first2=Yasuhide\|last3=Kakiuchi\|first3=Nobuyuki\|last4=Yoshida\|first4=Kenichi\|last5=Assanasen\|first5=Thamathorn\|last6=Sitthi\|first6=Wimonmas\|last7=Bunworasate\|first7=Udomsak\|last8=Pirunsarn\|first8=Arunrat\|last9=Wudhikarn\|first9=Kitsada\|date=2019-02-26\|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/30792187\|journal=Blood Advances\|volume=3\|issue=4\|pages=588–595\|doi=10.1182/bloodadvances.2018028340\|issn=2473-9537\|pmc=6391671\|pmid=30792187}}</ref><ref name=":1" />
	\|~~None~~		\|May have prognostic and therapeutic significance in patients presenting with hemophagocytic syndromes.<ref>{{Cite journal\|last=Sonigo\|first=Gabrielle\|last2=Battistella\|first2=Maxime\|last3=Beylot-Barry\|first3=Marie\|last4=Ingen-Housz-Oro\|first4=Saskia\|last5=Franck\|first5=Nathalie\|last6=Barete\|first6=Stéphane\|last7=Boulinguez\|first7=Serge\|last8=Dereure\|first8=Olivier\|last9=Bonnet\|first9=Nathalie\|date=2020-03-26\|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/32005988\|journal=Blood\|volume=135\|issue=13\|pages=1058–1061\|doi=10.1182/blood.2019003811\|issn=1528-0020\|pmid=32005988}}</ref>
	\|No		\|No
	\|~~More~~ common in East Asian populations, with ~~more than 85% of cases are associated with a homozygous or compound heterozygous germline pathogenic variants. In particular,~~ p.~~Y82C~~, p.I97M~~, p.T101I~~.<ref name=":1" /><ref name=":0" />		\|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" />
	\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.		\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
	==Epigenomic Alterations==		==Epigenomic Alterations==
Line 147:		Line 126:
	!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome		!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
	\|-		\|-
	\|		\|ARID1B, SMARCA4, NCOR1, KMT2C, KMT2D, DOTIL, CHD3, CHD4, PBRM1, CREBBP, ASXL1, MBD1, KMT2B, HIST1H3J
	\|Epigenetic modifiers		\|Epigenetic modifiers<ref name=":2" />
	\|		\|Unregulated cell division
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations~~		\|TSC1, MTOR, PIK3CB, PIK3CA, PIK3CD, TSC2, AKT2
	\|PI3K/AKT/mTOR pathway<ref>{{Cite journal\|last=Li\|first=Zhaoming\|last2=Lu\|first2=Lisha\|last3=Zhou\|first3=Zhiyuan\|last4=Xue\|first4=Weili\|last5=Wang\|first5=Yingjun\|last6=Jin\|first6=Mengyuan\|last7=Qiu\|first7=Yajuan\|last8=Sun\|first8=Wei\|last9=Fu\|first9=Xuefei\|date=2018-05\|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/28294301\|journal=British Journal of Haematology\|volume=181\|issue=3\|pages=406–410\|doi=10.1111/bjh.14611\|issn=1365-2141\|pmid=28294301}}</ref>		\|PI3K/AKT/mTOR pathway<ref name=":2">{{Cite journal\|last=Li\|first=Zhaoming\|last2=Lu\|first2=Lisha\|last3=Zhou\|first3=Zhiyuan\|last4=Xue\|first4=Weili\|last5=Wang\|first5=Yingjun\|last6=Jin\|first6=Mengyuan\|last7=Qiu\|first7=Yajuan\|last8=Sun\|first8=Wei\|last9=Fu\|first9=Xuefei\|date=2018-05\|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma\|url=https://pubmed.ncbi.nlm.nih.gov/28294301\|journal=British Journal of Haematology\|volume=181\|issue=3\|pages=406–410\|doi=10.1111/bjh.14611\|issn=1365-2141\|pmid=28294301}}</ref>
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Increased cell growth and proliferation		\|Increased cell growth and proliferation
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~ ''~~CDKN2A~~''~~; Inactivating mutations~~		\|''IL7R, JAK3, STAT3''
	\|JAK3/STAT pathway		\|JAK3/STAT pathway<ref name=":2" />
	\|<~~span class~~="~~blue-text~~"~~>EXAMPLE:<~~/~~span~~> Unregulated cell division		\|Unregulated cell division
	\|-		\|-
	\|		\|TP53 and NAV3; loss of tumor suppression
	\|		\|TP53
	\|		\|Increased cell growth and proliferation
	\|-		\|-
	\|		\|