HAEM5:T-large granular lymphocytic leukaemia - Revision history

Sumire.Kitahara at 03:41, 18 February 2026

2026-02-18T03:41:44Z

Nicolas.LaScala: /* Epigenomic Alterations */

2026-01-17T01:10:57Z

Epigenomic Alterations

← Older revision		Revision as of 20:10, 16 January 2026
Line 349:		Line 349:
	**An epigenetic inhibition mechanism to SOCS3 gene is hypothesized<ref name=":10" />		**An epigenetic inhibition mechanism to SOCS3 gene is hypothesized<ref name=":10" />
	**KIR3DL1 has been shown to be down-modulated by hypermethylation of the promoter<ref name=":10" />		**KIR3DL1 has been shown to be down-modulated by hypermethylation of the promoter<ref name=":10" />
	**Mutations in KMT2D and TET2 have been found to significantly co-occur with STAT3 mutations<~~sup>[26]<~~/~~sup~~>		**Mutations in KMT2D and TET2 have been found to significantly co-occur with STAT3 mutations<ref name=":0" />

	<br />		<br />
Line 355:		Line 355:
	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==

			<span style="color:#0070C0">(''Instructions: 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: 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
	\|-		\|-
	\|JAK/STAT<~~sup>[7]<~~/~~sup~~>		\|JAK/STAT<ref name=":3" />
	\|Constitutive activation		\|Constitutive activation
	\|Dysregulation of apoptosis		\|Dysregulation of apoptosis
	\|-		\|-
	\|NK-kB<~~sup>[7]<~~/~~sup~~>		\|NK-kB<ref name=":3" />
	\|Pathway activation		\|Pathway activation
	\|Preventing apoptosis		\|Preventing apoptosis
	\|-		\|-
	\|FAS and FASL<~~sup>[7]<~~/~~sup~~>		\|FAS and FASL<ref name=":3" />
	\|Resistance to FAS mediated apoptosis		\|Resistance to FAS mediated apoptosis
	\|Activation of pro-survival pathways which is postulated to lead to neutropenia		\|Activation of pro-survival pathways which is postulated to lead to neutropenia
	\|-		\|-
	\|RAS/RAF1/MEK1/ERK<~~sup>[7]<~~/~~sup~~>		\|RAS/RAF1/MEK1/ERK<ref name=":3" />
	\|Overactive RAS		\|Overactive RAS
	\|Constitutive activation of RAS and ERK		\|Constitutive activation of RAS and ERK
	\|-		\|-
	\|PI3K/AKT<~~sup>[7]<~~/~~sup~~>		\|PI3K/AKT<ref name=":3" />
	\|Dysregulation		\|Dysregulation
	\|Apoptosis inhibition		\|Apoptosis inhibition
Line 394:		Line 393:
	*Morphologic assessment, flow cytometry and immunohistochemistry		*Morphologic assessment, flow cytometry and immunohistochemistry
	*PCR to assess for clonality, T-cell receptor (TCR) gene rearrangements		*PCR to assess for clonality, T-cell receptor (TCR) gene rearrangements
	** TCR gamma (TCRG) gene is rearranged in all cases, regardless of the type of TCR expressed, thus proves clonality		** TCR gamma (TCRG) gene is rearranged in all cases, regardless of the type of TCR expressed, thus proves clonality<ref name=":9" />
	** Can be helpful in differentiating a reactive lymphocytosis from clonal T-LGL's		** Can be helpful in differentiating a reactive lymphocytosis from clonal T-LGL's
	*** NK LGL proliferations do not express TCR, making assessment of clonality difficult		*** NK LGL proliferations do not express TCR, making assessment of clonality difficult<ref name=":3" />
	*** Expression of activating isoforms of killer immunoglobulin-like receptors (KIR) can be used as a surrogate marker of clonality in NK LGL		*** Expression of activating isoforms of killer immunoglobulin-like receptors (KIR) can be used as a surrogate marker of clonality in NK LGL<ref name=":3" />
	* Myeloid neoplasms may present with clonal large granular lymphocyte expansion with STAT3/STAT5B mutations. Next generation sequencing can be diagnostically useful in these cases<~~sup~~>~~[21]~~</~~sup~~>		* Myeloid neoplasms may present with clonal large granular lymphocyte expansion with STAT3/STAT5B mutations. Next generation sequencing can be diagnostically useful in these cases<ref>{{Cite journal\|last=Kavesh\|first=Mark\|last2=Mohebnasab\|first2=Maedeh\|last3=Angel\|first3=Marcela Riveros\|last4=Xie\|first4=Wei\|last5=Raess\|first5=Philipp W.\|last6=Cui\|first6=Wei\|last7=Press\|first7=Richard D.\|last8=Yang\|first8=Guang\|last9=Li\|first9=Peng\|date=2023-01-10\|title=Distinguishing STAT3/STAT5B -mutated large granular lymphocyte leukemia from myeloid neoplasms by genetic profiling\|url=https://ashpublications.org/bloodadvances/article/7/1/40/486140/Distinguishing-STAT3-STAT5B-mutated-large-granular\|journal=Blood Advances\|language=en\|volume=7\|issue=1\|pages=40–45\|doi=10.1182/bloodadvances.2022008192\|issn=2473-9529}}</ref>

	==Familial Forms==		==Familial Forms==
Line 406:		Line 405:
	==Additional Information==		==Additional Information==

	*PI3K-Akt has been found to be upregulated in KLRG1<sup>-</sup> CD8<sup>+</sup> T-LGLL. Studies are being conducted to examine treatment with linperlisib.<~~sup~~>~~[29]~~</~~sup~~>		*PI3K-Akt has been found to be upregulated in KLRG1<sup>-</sup> CD8<sup>+</sup> T-LGLL. Studies are being conducted to examine treatment with linperlisib.<ref>{{Cite journal\|last=Zhang\|first=Lele\|last2=Qiu\|first2=Chen\|last3=Li\|first3=Ruonan\|last4=Shen\|first4=Yucan\|last5=Tian\|first5=Linzhu\|last6=Chang\|first6=Hong\|last7=Liang\|first7=Qian\|last8=Pan\|first8=Hong\|last9=Gao\|first9=Zhen\|date=2025-04\|title=KLRG1 re-defines a leukemic clone of CD8 effector T cells sensitive to PI3K inhibitor in T cell large granular lymphocytic leukemia\|url=https://linkinghub.elsevier.com/retrieve/pii/S2666379125001090\|journal=Cell Reports Medicine\|language=en\|volume=6\|issue=4\|pages=102036\|doi=10.1016/j.xcrm.2025.102036\|pmc=12047471\|pmid=40147444}}</ref>
	*Myleoid clonal hematopoiesis is associated with the presence of cytopenia in LGLL<~~sup>[30]<~~/~~sup~~>		*Myleoid clonal hematopoiesis is associated with the presence of cytopenia in LGLL<ref name=":1" />

	==Links==		==Links==

Nicolas.LaScala: /* Gene Mutations (SNV/INDEL) */

2026-01-17T01:03:48Z

Gene Mutations (SNV/INDEL)

Show changes

Nicolas.LaScala: /* Gene Mutations (SNV/INDEL) */

2026-01-16T21:26:05Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 16:26, 16 January 2026
Line 237:		Line 237:
	F127C <ref>{{Cite journal\|last=Johansson\|first=Patricia\|last2=Bergmann\|first2=Anke\|last3=Rahmann\|first3=Sven\|last4=Wohlers\|first4=Inken\|last5=Scholtysik\|first5=René\|last6=Przekopowitz\|first6=Martina\|last7=Seifert\|first7=Marc\|last8=Tschurtschenthaler\|first8=Gertraud\|last9=Webersinke\|first9=Gerald\|date=2016-01-01\|title=Recurrent alterations of TNFAIP 3 (A20) in T-cell large granular lymphocytic leukemia: A20 mutations in T-LGL\|url=https://onlinelibrary.wiley.com/doi/10.1002/ijc.29697\|journal=International Journal of Cancer\|language=en\|volume=138\|issue=1\|pages=121–124\|doi=10.1002/ijc.29697}}</ref>		F127C <ref>{{Cite journal\|last=Johansson\|first=Patricia\|last2=Bergmann\|first2=Anke\|last3=Rahmann\|first3=Sven\|last4=Wohlers\|first4=Inken\|last5=Scholtysik\|first5=René\|last6=Przekopowitz\|first6=Martina\|last7=Seifert\|first7=Marc\|last8=Tschurtschenthaler\|first8=Gertraud\|last9=Webersinke\|first9=Gerald\|date=2016-01-01\|title=Recurrent alterations of TNFAIP 3 (A20) in T-cell large granular lymphocytic leukemia: A20 mutations in T-LGL\|url=https://onlinelibrary.wiley.com/doi/10.1002/ijc.29697\|journal=International Journal of Cancer\|language=en\|volume=138\|issue=1\|pages=121–124\|doi=10.1002/ijc.29697}}</ref>
	\|Other <ref>{{Cite journal\|title=TNFAIP3 TNF alpha induced protein 3 [Homo sapiens (human)] - Gene - NCBI\|url=https://www.ncbi.nlm.nih.gov/gene/7128\|language=en}}</ref>		\|Other <ref>{{Cite journal\|title=TNFAIP3 TNF alpha induced protein 3 [Homo sapiens (human)] - Gene - NCBI\|url=https://www.ncbi.nlm.nih.gov/gene/7128\|language=en}}</ref>
	\|Recurrent <~~sup~~>~~[46]~~</~~sup~~>		\|Recurrent <ref name=":16">{{Cite journal\|last=Upadhyayula\|first=Bhanu Surabi\|last2=Saglimbeni\|first2=Grace S.\|last3=Gobel\|first3=Edie\|last4=Gobel\|first4=Abbi\|last5=Morris\|first5=Tyson J.\|last6=Surendra\|first6=Akaash\|last7=Hsia\|first7=Beau\|last8=Sood\|first8=Akshat\|last9=Tauseef\|first9=Abubakar\|date=2026-01\|title=Mutational Spectrum of T-Cell Large Granular Lymphocytic Leukemia: Insights From the AACR Project GENIE Consortium\|url=http://cgp.iiarjournals.org/lookup/doi/10.21873/cgp.20566\|journal=Cancer Genomics - Proteomics\|language=en\|volume=23\|issue=1\|pages=135–143\|doi=10.21873/cgp.20566\|issn=1109-6535\|pmc=12758657\|pmid=41482347}}</ref>
	\|P,T		\|P,T
	\|WHO		\|WHO
	\|TNFAIP 3 mutation has been correlated with increased overall survival <~~sup~~>~~[17]~~</~~sup~~>		\|TNFAIP 3 mutation has been correlated with increased overall survival <ref>{{Cite journal\|last=Chen\|first=Cunte\|last2=Chen\|first2=Zheng\|last3=Huang\|first3=Ling\|last4=Zhou\|first4=Lingling\|last5=Zhu\|first5=Lihua\|last6=Liu\|first6=Sichu\|last7=Luo\|first7=Gengxin\|last8=Li\|first8=Wenyu\|last9=Zeng\|first9=Chengwu\|date=2021-09-15\|title=TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma\|url=https://doi.org/10.1186/s12935-021-02191-5\|journal=Cancer Cell International\|language=en\|volume=21\|issue=1\|pages=490\|doi=10.1186/s12935-021-02191-5\|issn=1475-2867\|pmc=8444556\|pmid=34526012}}</ref>
			TNFAIP3 itself is a NF‐κB target gene<ref>{{Cite journal\|last=Zhang\|first=Ranran\|last2=Shah\|first2=Mithun Vinod\|last3=Yang\|first3=Jun\|last4=Nyland\|first4=Susan B.\|last5=Liu\|first5=Xin\|last6=Yun\|first6=Jong K.\|last7=Albert\|first7=Réka\|last8=Loughran\|first8=Thomas P.\|date=2008-10-21\|title=Network model of survival signaling in large granular lymphocyte leukemia\|url=https://www.pnas.org/doi/full/10.1073/pnas.0806447105\|journal=Proceedings of the National Academy of Sciences\|volume=105\|issue=42\|pages=16308–16313\|doi=10.1073/pnas.0806447105\|pmc=2571012\|pmid=18852469}}</ref>

			In one study three of four of the patients with non‐synonymous TNFAIP3 alterations also harbored a STAT3 mutation (''p'' = 0.004)<ref name=":11" />

	~~TNFAIP3 itself is a NF‐κB target gene<sup>[15]</sup>~~

	In one study three of four of the patients with non‐synonymous TNFAIP3 alterations also harbored a STAT3 mutation (''p'' = 0.004)<~~sup>[9]<~~/~~sup~~>
	\|-		\|-
	\|TET2 <~~sup>[1]<~~/~~sup~~>		\|TET2 <ref name=":9" />
	\|Loss of function <~~sup~~>~~[26]~~</~~sup~~>		\|Loss of function <ref>{{Cite journal\|last=Cheon\|first=HeeJin\|last2=Xing\|first2=Jeffrey C.\|last3=Moosic\|first3=Katharine B.\|last4=Ung\|first4=Johnson\|last5=Chan\|first5=Vivian W.\|last6=Chung\|first6=David S.\|last7=Toro\|first7=Mariella F.\|last8=Elghawy\|first8=Omar\|last9=Wang\|first9=John S.\|date=2022-05-19\|title=Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia\|url=https://ashpublications.org/blood/article/139/20/3058/483429/Genomic-landscape-of-TCR-and-TCR-T-large-granular\|journal=Blood\|language=en\|volume=139\|issue=20\|pages=3058–3072\|doi=10.1182/blood.2021013164\|issn=0006-4971\|pmc=9121841\|pmid=35015834}}</ref>
	\|Other <~~sup~~>[34]</~~sup~~>		\|Other <ref>{{Cite journal\|title=TET2 tet methylcytosine dioxygenase 2 [Homo sapiens (human)] - Gene - NCBI\|url=https://www.ncbi.nlm.nih.gov/gene/54790}}</ref>
	\|Common <~~sup>[46]<~~/~~sup~~>		\|Common <ref name=":16" />
	\|N/A		\|N/A
	\|WHO		\|WHO
	\|Found to be the most prevalent mutation in myeloid neoplasm or myeloid clonal hematopoiesis coexisting with T-LGLL <~~sup~~>~~[30]~~</~~sup~~>		\|Found to be the most prevalent mutation in myeloid neoplasm or myeloid clonal hematopoiesis coexisting with T-LGLL <ref>{{Cite journal\|last=Kawashima\|first=Naomi\|last2=Gurnari\|first2=Carmelo\|last3=Bravo-Perez\|first3=Carlos\|last4=Kubota\|first4=Yasuo\|last5=Pagliuca\|first5=Simona\|last6=Guarnera\|first6=Luca\|last7=Williams\|first7=Nakisha D.\|last8=Durmaz\|first8=Arda\|last9=Ahmed\|first9=Arooj\|date=2025-02\|title=Clonal hematopoiesis in large granular lymphocytic leukemia\|url=https://www.nature.com/articles/s41375-024-02460-y\|journal=Leukemia\|language=en\|volume=39\|issue=2\|pages=451–459\|doi=10.1038/s41375-024-02460-y\|issn=1476-5551}}</ref>
	\|-		\|-
	\|BCL11B <~~sup>[1]<~~/~~sup~~>		\|BCL11B <ref name=":9" />
	\|Missense H126R <~~sup~~>~~[43]~~</~~sup~~>		\|Missense H126R<ref name=":17">{{Cite journal\|last=Andersson\|first=E. I.\|last2=Rajala\|first2=H. L. M.\|last3=Eldfors\|first3=S.\|last4=Ellonen\|first4=P.\|last5=Olson\|first5=T.\|last6=Jerez\|first6=A.\|last7=Clemente\|first7=M. J.\|last8=Kallioniemi\|first8=O.\|last9=Porkka\|first9=K.\|date=2013-12\|title=Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation\|url=https://www.nature.com/articles/bcj201365\|journal=Blood Cancer Journal\|language=en\|volume=3\|issue=12\|pages=e168–e168\|doi=10.1038/bcj.2013.65\|issn=2044-5385\|pmc=3877422\|pmid=24317090}}</ref>
	\|Other <~~sup~~>~~[35]~~</~~sup~~>		\|Other<ref>{{Cite journal\|title=BCL11 transcription factor B\|url=https://www.ncbi.nlm.nih.gov/datasets/gene/64919/\|language=en}}</ref>
	\|Rare <~~sup>[43]<~~/~~sup~~>		\|Rare<ref name=":17" />
	\|N/A		\|N/A
	\|WHO		\|WHO
	\|BCL11B is required for T-cell survival and overexpression could effectively increase T-cell activation and proliferation. <~~sup>[43]<~~/~~sup~~>		\|BCL11B is required for T-cell survival and overexpression could effectively increase T-cell activation and proliferation.<ref name=":17" />
	\|-		\|-
	\|FLT3 <~~sup>[1]<~~/~~sup~~>		\|FLT3<ref name=":9" />
	\|A high-impact Asp228Gly variant on JAK STAT has been demonstrated <~~sup~~>~~[44]~~</~~sup~~>		\|A high-impact Asp228Gly variant on JAK STAT has been demonstrated <ref name=":18">{{Cite journal\|last=Coppe\|first=A\|last2=Andersson\|first2=E I\|last3=Binatti\|first3=A\|last4=Gasparini\|first4=V R\|last5=Bortoluzzi\|first5=S\|last6=Clemente\|first6=M\|last7=Herling\|first7=M\|last8=Maciejewski\|first8=J\|last9=Mustjoki\|first9=S\|date=2017-05\|title=Genomic landscape characterization of large granular lymphocyte leukemia with a systems genetics approach\|url=https://www.nature.com/articles/leu201749\|journal=Leukemia\|language=en\|volume=31\|issue=5\|pages=1243–1246\|doi=10.1038/leu.2017.49\|issn=0887-6924\|pmc=5419584\|pmid=28167832}}</ref>
	\|Other <~~sup~~>~~[36]~~</~~sup~~>		\|Other<ref>{{Cite journal\|title=fms related receptor tyrosine kinase 3\|url=https://www.ncbi.nlm.nih.gov/datasets/gene/2322/\|language=en}}</ref>
	\|Rare <~~sup>[44]<~~/~~sup~~>		\|Rare<ref name=":18" />
	\|N/A		\|N/A
	\|WHO		\|WHO
	\|Connects STAT to the MAPK-Ras-ERK pathway and to IL-15 <~~sup>[44]<~~/~~sup~~>		\|Connects STAT to the MAPK-Ras-ERK pathway and to IL-15<ref name=":18" />
	\|-		\|-
	\|PTPN23 <~~sup>[1]<~~/~~sup~~>		\|PTPN23<ref name=":9" />
	\|R641Q <~~sup~~>~~[45]~~</~~sup~~>		\|R641Q<ref name=":19">{{Cite journal\|last=Andersson\|first=Emma I.\|last2=Tanahashi\|first2=Takahiro\|last3=Sekiguchi\|first3=Nodoka\|last4=Gasparini\|first4=Vanessa Rebecca\|last5=Bortoluzzi\|first5=Sabrina\|last6=Kawakami\|first6=Toru\|last7=Matsuda\|first7=Kazuyuki\|last8=Mitsui\|first8=Takeki\|last9=Eldfors\|first9=Samuli\|date=2016-11-17\|title=High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia\|url=https://ashpublications.org/blood/article/128/20/2465/35603/High-incidence-of-activating-STAT5B-mutations-in\|journal=Blood\|language=en\|volume=128\|issue=20\|pages=2465–2468\|doi=10.1182/blood-2016-06-724856\|issn=0006-4971\|pmc=5114490\|pmid=27697773}}</ref>
	\|Other <~~sup~~>~~[37]~~</~~sup~~>		\|Other<ref>{{Cite journal\|title=protein tyrosine phosphatase non-receptor type 23\|url=https://www.ncbi.nlm.nih.gov/datasets/gene/25930/\|language=en}}</ref>
	\|Rare <~~sup>[45]<~~/~~sup~~>		\|Rare<ref name=":19" />
	\|N/A		\|N/A
	\|WHO		\|WHO
	\|Demonstrated in a patient with CD4+ T-LGLL without a STAT5B or STAT3 mutation <~~sup>[45]<~~/~~sup~~>		\|Demonstrated in a patient with CD4+ T-LGLL without a STAT5B or STAT3 mutation<ref name=":19" />
	\|-		\|-
	\|KMT2D <sup>[26]</sup>		\|KMT2D <sup>[26]</sup>

Nicolas.LaScala at 21:00, 16 January 2026

2026-01-16T21:00:18Z

← Older revision		Revision as of 16:00, 16 January 2026
Line 221:		Line 221:
	STAT5B mutations are more common in CD4+ T-LGLL than in CD8+ T-LGLL <ref name=":14" /><ref>{{Cite journal\|last=Andersson\|first=Emma I.\|last2=Tanahashi\|first2=Takahiro\|last3=Sekiguchi\|first3=Nodoka\|last4=Gasparini\|first4=Vanessa Rebecca\|last5=Bortoluzzi\|first5=Sabrina\|last6=Kawakami\|first6=Toru\|last7=Matsuda\|first7=Kazuyuki\|last8=Mitsui\|first8=Takeki\|last9=Eldfors\|first9=Samuli\|date=2016-11-17\|title=High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia\|url=https://ashpublications.org/blood/article/128/20/2465/35603/High-incidence-of-activating-STAT5B-mutations-in\|journal=Blood\|language=en\|volume=128\|issue=20\|pages=2465–2468\|doi=10.1182/blood-2016-06-724856\|issn=0006-4971\|pmc=5114490\|pmid=27697773}}</ref>		STAT5B mutations are more common in CD4+ T-LGLL than in CD8+ T-LGLL <ref name=":14" /><ref>{{Cite journal\|last=Andersson\|first=Emma I.\|last2=Tanahashi\|first2=Takahiro\|last3=Sekiguchi\|first3=Nodoka\|last4=Gasparini\|first4=Vanessa Rebecca\|last5=Bortoluzzi\|first5=Sabrina\|last6=Kawakami\|first6=Toru\|last7=Matsuda\|first7=Kazuyuki\|last8=Mitsui\|first8=Takeki\|last9=Eldfors\|first9=Samuli\|date=2016-11-17\|title=High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia\|url=https://ashpublications.org/blood/article/128/20/2465/35603/High-incidence-of-activating-STAT5B-mutations-in\|journal=Blood\|language=en\|volume=128\|issue=20\|pages=2465–2468\|doi=10.1182/blood-2016-06-724856\|issn=0006-4971\|pmc=5114490\|pmid=27697773}}</ref>
	\|-		\|-
	\|TNFAIP3 <~~sup>[1]<~~/~~sup~~>		\|TNFAIP3 <ref name=":9" />
	\|Loss of function		\|Loss of function
	Somatic mutations:		Somatic mutations:
Line 235:		Line 235:
	A717T		A717T

	F127C <~~sup~~>~~[9]~~</~~sup~~>		F127C <ref>{{Cite journal\|last=Johansson\|first=Patricia\|last2=Bergmann\|first2=Anke\|last3=Rahmann\|first3=Sven\|last4=Wohlers\|first4=Inken\|last5=Scholtysik\|first5=René\|last6=Przekopowitz\|first6=Martina\|last7=Seifert\|first7=Marc\|last8=Tschurtschenthaler\|first8=Gertraud\|last9=Webersinke\|first9=Gerald\|date=2016-01-01\|title=Recurrent alterations of TNFAIP 3 (A20) in T-cell large granular lymphocytic leukemia: A20 mutations in T-LGL\|url=https://onlinelibrary.wiley.com/doi/10.1002/ijc.29697\|journal=International Journal of Cancer\|language=en\|volume=138\|issue=1\|pages=121–124\|doi=10.1002/ijc.29697}}</ref>
	\|Other <~~sup~~>[33]</~~sup~~>		\|Other <ref>{{Cite journal\|title=TNFAIP3 TNF alpha induced protein 3 [Homo sapiens (human)] - Gene - NCBI\|url=https://www.ncbi.nlm.nih.gov/gene/7128\|language=en}}</ref>
	\|Recurrent <sup>[46]</sup>		\|Recurrent <sup>[46]</sup>
	\|P,T		\|P,T

Nicolas.LaScala: /* Individual Region Genomic Gain/Loss/LOH */

2026-01-16T20:46:29Z

Individual Region Genomic Gain/Loss/LOH

Show changes

Nicolas.LaScala: /* Gene Mutations (SNV/INDEL) */

2026-01-15T04:42:10Z

Gene Mutations (SNV/INDEL)

Show changes

Nicolas.LaScala: /* Gene Rearrangements */

2026-01-15T01:00:18Z

Gene Rearrangements

Show changes

Nicolas.LaScala: /* Primary Author(s)* */

2026-01-14T22:44:15Z

Primary Author(s)*

@@ Line 12: / Line 12: @@
 *Michelle Don, MD, MS
 ==WHO Classification of Disease==
@@ Line 48: / Line 49: @@
 ==Gene Rearrangements==
+No know chromosomal rearrangements. <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"
 |-
@@ Line 58: / Line 58: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
+|N/A||N/A||N/A||N/A
 |<span class="blue-text">EXAMPLE:</span> Common (CML)
 |<span class="blue-text">EXAMPLE:</span> D, P, T
@@ Line 64: / Line 64: @@
 |<span class="blue-text">EXAMPLE:</span>
 The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
 |-
+|

Bailey.Glen at 17:30, 3 July 2025

2025-07-03T17:30:32Z

← Older revision		Revision as of 12:30, 3 July 2025
Line 35:		Line 35:
	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
	~~{\| class="wikitable"~~
	\|+
	\|WHO Essential Criteria (Genetics)*
	\|
	\|-
	\|WHO Desirable Criteria (Genetics)*
	\|
	\|-
	~~\|Other Classification~~
	\|
	\|}
	<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==