HAEM5:T-large granular lymphocytic leukaemia: Difference between revisions
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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 < | |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 < | |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" /> | |||
In one study three of four of the patients with non‐synonymous TNFAIP3 alterations also harbored a STAT3 mutation (''p'' = 0.004)< | |||
|- | |- | ||
|TET2 < | |TET2 <ref name=":9" /> | ||
|Loss of function < | |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 < | |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 < | |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 < | |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 < | |BCL11B <ref name=":9" /> | ||
|Missense H126R < | |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 < | |Other<ref>{{Cite journal|title=BCL11 transcription factor B|url=https://www.ncbi.nlm.nih.gov/datasets/gene/64919/|language=en}}</ref> | ||
|Rare < | |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. < | |BCL11B is required for T-cell survival and overexpression could effectively increase T-cell activation and proliferation.<ref name=":17" /> | ||
|- | |- | ||
|FLT3 < | |FLT3<ref name=":9" /> | ||
|A high-impact Asp228Gly variant on JAK STAT has been demonstrated < | |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 < | |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 < | |Rare<ref name=":18" /> | ||
|N/A | |N/A | ||
|WHO | |WHO | ||
|Connects STAT to the MAPK-Ras-ERK pathway and to IL-15 < | |Connects STAT to the MAPK-Ras-ERK pathway and to IL-15<ref name=":18" /> | ||
|- | |- | ||
|PTPN23 < | |PTPN23<ref name=":9" /> | ||
|R641Q < | |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 < | |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 < | |Rare<ref name=":19" /> | ||
|N/A | |N/A | ||
|WHO | |WHO | ||
|Demonstrated in a patient with CD4+ T-LGLL without a STAT5B or STAT3 mutation < | |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> | ||