Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE Genome wide sequencing studies have dissected the repertoire of the genetic alterations driving AITL uncovering a highly recurrent Gly17Val somatic mutation in the small GTPase RHOA and major role for mutations in epigenetic regulators, such as TET2, DNMT3A and IDH2, and signaling factors (e.g., FYN and CD28). 27177312 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples. 24413734 2014
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. 28157189 2017
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE Recently, mutations in TET2 and other epigenetic modifiers as well as RHOA have been identified in these diseases, particularly in angioimmunoblastic T-cell lymphoma (AITL). 26719098 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE Recent genetic studies identified that the disease-specific G17V RHOA mutation, together with mutations in TET2, DNMT3A, and IDH2, is a hallmark of angioimmunoblastic T cell lymphomas (AITL). 28634614 2017
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE Among these, CCR4 expression and the CD21(+) network in RHOA-mutated AITL cases were more extensive than in the RHOA mutation-negative AITL cases (P<0.05). 27158755 2016
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples. 24413734 2014
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE Using whole-exome and subsequent targeted sequencing, we recently identified G17V RHOA mutations in 60-70% of AITL and AITL-like PTCL-NOS cases but not in other hematologic cancers, including other T-cell malignancies. 25310466 2014
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE Response to 5-azacytidine in a patient with TET2-mutated angioimmunoblastic T-cell lymphoma and chronic myelomonocytic leukaemia preceded by an EBV-positive large B-cell lymphoma. 27353473 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE Genome wide sequencing studies have dissected the repertoire of the genetic alterations driving AITL uncovering a highly recurrent Gly17Val somatic mutation in the small GTPase RHOA and major role for mutations in epigenetic regulators, such as TET2, DNMT3A and IDH2, and signaling factors (e.g., FYN and CD28). 27177312 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE We report the first case of discordant intracellular and plasma D-2HG levels in a patient with IDH2 R172S mutated AITL. 26617922 2015
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE In order to identify cases with IDH2 mutations, 50 cases previously diagnosed as angioimmunoblastic T-cell lymphoma were subjected to next-generation sequencing analysis using a custom panel covering four genes frequently mutated in angioimmunoblastic T-cell lymphoma including DNMT3A, TET2, IDH2 and RHOA. 30952970 2019
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE These results suggest that a combination of immunohistochemistry and AS-PCR or NGS should be considered for the identification of IDH2 mutations in AITL in a routine setting. 29981867 2018
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lymphoma that harbor follicular helper T (Tfh)-cell-like features, such as angioimmunoblastic T-cell lymphoma (30-83%) or peripheral T-cell lymphoma, not otherwise specified (10-49%), as well as myeloid malignancies. 25501021 2014
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE Interestingly, TET2 mutations were identified in 32 of 33 (97%) cases with IDH2<sup>R172</sup> and/or RHOA<sup>G17V</sup> mutations whereas only 55% of angioimmunoblastic T-cell lymphoma cases wild-type for these two genes carried TET2 mutations (p = 0.0022). 30952970 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE These data provide evidence that IDH2 R172 mutations may be the only variants present in AITL because of their capacity to produce significant amounts of the oncometabolite 2HG in the cell of origin of this disease. 27956631 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE Although IDH2 mutations are largely confined to AITL, mutations of the other 3 can be found in other types of PTCL, although at lower frequencies. 26268241 2015
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE The RHOA G17V mutation was identified in 63% of the AITL cases and in none of the PTCL-NOS cases. 26574844 2016
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.400 GeneticVariation disease BEFREE DNMT3A mutations occurred in 28 (33%) AITLs; 100% of these also harbored TET2 mutations (P < .0001). 24345752 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE Angioimmunoblastic T-cell lymphomas (AITLs) frequently carry mutations in the TET2 and IDH2 genes. 28337768 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.400 GeneticVariation disease BEFREE This is the second common genetic lesion identified in AITL after TET2 and extends the number of neoplastic diseases where IDH1 and IDH2 mutations may play a role. 22215888 2012
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE Our experimental data and modeling results suggest that the RHOA mutation encoding p.Gly17Val is a driver mutation in AITL. 24584070 2014
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE Genome wide sequencing studies have dissected the repertoire of the genetic alterations driving AITL uncovering a highly recurrent Gly17Val somatic mutation in the small GTPase RHOA and major role for mutations in epigenetic regulators, such as TET2, DNMT3A and IDH2, and signaling factors (e.g., FYN and CD28). 27177312 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA
0.400 GeneticVariation disease BEFREE For example, genetic alterations have been discovered, including signal transducer and activator of transcription (STAT)3 and STAT5b mutations in several PTCLs, disease-specific ras homolog family member A (RHOA) mutations in angioimmunoblastic T cell lymphoma (AITL), and recurrent translocations at the dual specificity phosphatase 22 (DUSP22) locus in anaplastic lymphoma receptor tyrosine kinase (ALK)-negative anaplastic large cell lymphomas (ALCLs). 26431836 2015