Different genetic alteration of <i>A20</i> in a Sézary syndrome case with <i>Vα2‐Jα22</i> T cell clone

Zhou, Lingling; Zheng, Haitao; Huang, Xin; Zhu, Lihua; Wu, Sheng-Yi; Zeng, Chengwu; Yang, Lijian; Chen, Shaohua; Luo, Guopei; Du, Xin; Li, Yangqiu

doi:10.1111/ajco.12672

Cited by 5 publications

(11 citation statements)

References 43 publications

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“…In the GDPH dataset, the TCL subtypes accounting for greater than 10% of the samples were as follows: T-lymphoblastic lymphoma (T-LBL) (22.8%), angioimmunoblastic T-cell lymphoma (AITL) (22.8%), peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) (22.8%), and NKTCL (19.0%). Moreover, peripheral blood mononuclear cells (PBMCs) from 41 de novo TCL patients from JNU between October 19, 2007 and January 27, 2016 and 30 healthy individuals (HIs) were obtained for PCR and Sanger sequencing [20,21] (Fig. 1).…”

Section: Gdph and Jnu Datasetsmentioning

confidence: 99%

“…The promoter, exons 2-9, and 3′ UTR of the TNFAIP3 gene were amplified by 16 primer pairs, and the primer sequences are shown in Additional file 1: Table S1. PCR was performed as previously described [20,21]. After the PCR products were Sanger sequenced [20,21], TCL and HI sequences were compared using BLAST software (http:// blast.…”

Section: Polymerase Chain Reaction (Pcr) and Sanger Sequencingmentioning

confidence: 99%

“…PCR was performed as previously described [20,21]. After the PCR products were Sanger sequenced [20,21], TCL and HI sequences were compared using BLAST software (http:// blast. ncbi.…”

Section: Polymerase Chain Reaction (Pcr) and Sanger Sequencingmentioning

confidence: 99%

“…Moreover, the prognostic value of TNFAIP3 deletion in NKTCL patients has been investigated, but the results are contradictory [15,19]. In our previous study, mutations in the non-coding sequence (non-CDS) region of TNFAIP3 were also found in T-cell hematological malignancies [20,21]. However, comprehensive assessment of the mutation pattern and prognostic importance of TNFAIP3 in Chinese TCL patients in multiple large datasets remains lacking.…”

Section: Introductionmentioning

confidence: 99%

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TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Chen

Huang

et al. 2021

Cancer Cell Int

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Background T-cell lymphoma (TCL) is highly aggressive and has a poor prognosis; thus, it is worth exploring biomarkers that may predict clinical outcomes and investigate their potential role in developing targeted therapies. In this study, we characterized the mutation pattern of tumor necrosis factor-alpha-inducing protein 3 (TNFAIP3) and its role in the prognosis of TCL patients. Methods Coding sequence (CDS) mutations in TNFAIP3 in TCL patients was explored using exome-sequencing data from 79 patients in our center (Guangdong Provincial People’s Hospital, GDPH) and 544 samples from the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Additionally, non-CDS mutations in TNFAIP3 in 41 TCL patients from our center (JNU) were investigated by polymerase chain reaction (PCR) and Sanger sequencing. Furthermore, non-CDS mutations in TNFAIP3 in 47 TCL patients from Gene Expression Omnibus (GEO) dataset were explored. Results In the COSMIC database, TNFAIP3 mutations in TCL patients were located in the CDS, and the overall mutation frequency was 2.2%. However, TNFAIP3 mutations were not detected in the CDS of any of the samples in our center’s datasets. Interestingly, non-CDS TNFAIP3 mutations were found in 14.6% and 4.3% of TCL patients in the JNU and GSE15842 dataset, respectively. Importantly, there was a clear trend showing that TCL patients with a TNFAIP3 mutation were associated with a longer 5-year restricted mean survival time (RMST) and favorable OS rate compared with those without a TNFAIP3 mutation in the JNU dataset [hazard ratio (HR) = 0.29, 95% confidence interval (CI) 0.07 to 1.31, P = 0.089]. Furthermore, TNFAIP3 mutations significantly correlated with T-cell large granular lymphocytic leukemia (T-LGLL) with a favorable prognosis in the JNU dataset (P = 0.002). Notably, the different mutation patterns of TNFAIP3 when comparing our center and the COSMIC datasets might be due to different ethnic and genetic backgrounds. Conclusions To the best of our knowledge, we for the first time describe that TNFAIP3 mutations in non-CDS regions are associated with favorable OS for TCL patients, which might be a potential biomarker for the prognostic stratification of Chinese TCL patients.

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Section: Gdph and Jnu Datasetsmentioning

confidence: 99%

Section: Polymerase Chain Reaction (Pcr) and Sanger Sequencingmentioning

confidence: 99%

“…PCR was performed as previously described [20,21]. After the PCR products were Sanger sequenced [20,21], TCL and HI sequences were compared using BLAST software (http:// blast. ncbi.…”

Section: Polymerase Chain Reaction (Pcr) and Sanger Sequencingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Chen

Huang

et al. 2021

Cancer Cell Int

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“…Yet, another example of a YM-155 target gene to which little is known, is that of up-regulated expression of tumor necrosis factor, alpha-induced protein 3 (TNFAIP3) [+18.08, p<0.001]. What we do know from previous research is that low levels of TNFAIP3 are related to germline mutations associated with a plethora of inflammatory diseases (49) such as arthritis, myasthenia gravis (50) autoimmune hepatitis (51) autoimmune lymphoproliferative syndrome (52) and T-cell acute lymphoblastic leukemia (53,54). TNFAIP3 functions an endogenous anti-inflammatory regulator with capacity to down-regulate nuclear factor kappaB signaling, (52) attenuate suppressor of cytokine signaling 3 (55) and JNK phosphorylation (56), with its overexpression triggering tumor apoptosis, and reduction in cytokine release as well as metastasis/migration/ invasion (57)(58)(59)(60).…”

Section: Discussionmentioning

confidence: 99%

Effects of Sepantronium Bromide (YM-155) on the Whole Transcriptome of MDA-MB-231 Cells: Highlight on Impaired ATR/ATM Fanconi Anemia DNA Damage Response

Mazzio

Lewis

Elhag

et al. 2018

Cancer Genomics Proteomics

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Sepantronium bromide (YM-155) is believed to elicit apoptosis and mitotic arrest in tumor cells by reducing (BIRC5, survivin) mRNA. In this study, we monitored changes in survivin mRNA and protein after treating MDA-MB-231 cells with YM-155 concurrent with evaluation of whole transcriptomic (WT) mRNA and long intergenic non-coding RNA at 2 time points: 8 h sub-lethal (83 ng/mL) and 20 h at the LC (14.6 ng/mL). The data show a tight association between cell death and the precipitating loss of survivin protein and mRNA (-2.67 fold-change (FC), p<0.001) at 20 h, questioning if the decline in survivin is attributed to cell death or drug impact. The meager loss of survivin mRNA was overshadowed by enormous differential change to the WT in both magnitude and significance for over 2000 differentially up/down-regulated transcripts: (+22 FC to -12 FC, p<0.001). The data show YM-155 to up-regulate transcripts in control of circadian rhythm (NOCT, PER, BHLHe40, NFIL3), tumor suppression (SIK1, FOSB), histone methylation (KDM6B) and negative feedback of NF-kappa B signaling (TNFAIP3). Down-regulated transcripts by YM-155 include glucuronidase (GUSBP3), numerous micro-RNAs, DNA damage repair elements (CENPI, POLQ, RAD54B) and the most affected system was the ataxia-telangiectasia mutated (ATM)/Fanconi anemia E3 monoubiquitin ligase core complexes (FANC transcripts - A/B/E/F/G/M), FANC2, FANCI, BRCA1, BRCA2, RAD51, PALB2 gene and ATR (ATM- and Rad3-Related) pathway. In conclusion, these findings suggest that a primary target of YM-155 is the loss of replicative DNA repair systems.

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TNFAIP3 mutation is an independent poor overall survival factor for patients with T‐cell acute lymphoblastic leukemia

et al. 2022

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Different genetic alteration of A20 in a Sézary syndrome case with Vα2‐Jα22 T cell clone

Cited by 5 publications

References 43 publications

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Effects of Sepantronium Bromide (YM-155) on the Whole Transcriptome of MDA-MB-231 Cells: Highlight on Impaired ATR/ATM Fanconi Anemia DNA Damage Response

TNFAIP3 mutation is an independent poor overall survival factor for patients with T‐cell acute lymphoblastic leukemia

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