The wild-type blocking technologies that have been reported to overcome this include blocker displacement amplification (BDA), non-extendable locked nucleic acid (LNA), hot-spot-specific probes (HSSP), etc. These technologies use specific oligonucleotide sequences to block wild-type or recognize wild-type and then combine this with other methods to prevent wild-type amplification and amplify mutant amplification, leading to characteristics like high sensitivity, flexibility, and convenience. This protocol uses BDA, a wild-type blocking PCR combined with Sanger sequencing, to optimize the detection of RHOA G17V low-frequency somatic mutations, and the detection sensitivity can reach 0.5%, which can provide a basis for MRD monitoring of angioimmunoblastic T-cell lymphoma.

1 year ago

Journal

RHOA (Ras homolog family member A)

RHOA G17V

over1year

Diagnosis of Angioimmunoblastic T Cell Lymphoma After Receiving First Dose of Pfizer/BioNTech (BNT162b2) Vaccine: A Case Report. (PubMed, J Investig Med High Impact Case Rep)

Our case demonstrates a plausible correlation between the diagnosis of AITL following mRNA vaccination due to the malignant transformation of the TFH cells in patients who have a predisposing mutation of RHOA-17v. Given the rarity of AITL and the heterogeneity of molecular findings, more studies are needed to establish such an association.

over 1 year ago

Journal

RHOA (Ras homolog family member A)

IDH2 mutation • RHOA G17V

almost2years

Clinical and histological study of follicular helper T-cell lymphomas with indolent evolution. (PubMed, Eur J Cancer)

We described a series of 15 well-characterized TFHL patients with an indolent outcome, suggesting that a watch-and-wait approach can be proposed in selected patients. Identifying factors predicting such evolution is warranted.

almost 2 years ago

Journal

IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RHOA (Ras homolog family member A)

DNMT3A mutation • TET2 mutation • IDH2 R172 • RHOA G17V

2years

Angioimmunoblastic T-cell lymphoma and Kaposi sarcoma: A fortuitous collision? (PubMed, Histopathology)

Concurrent nodal involvement by AITL and KS is rare and identification of both neoplastic components may pose diagnostic challenges. The question of whether the association between AITL and KS may be fortuitous or could reflect the underlying immune dysfunction in AITL remains open.

2 years ago

Journal • PD(L)-1 Biomarker • IO biomarker

IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • PD-1 (Programmed cell death 1) • BCL6 (B-cell CLL/lymphoma 6) • TET2 (Tet Methylcytosine Dioxygenase 2) • CD34 (CD34 molecule) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • ICOS (Inducible T Cell Costimulator) • RHOA (Ras homolog family member A) • MME (Membrane Metalloendopeptidase) • CD31 (Platelet and endothelial cell adhesion molecule 1) • PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1)

TET2 mutation • IDH2 R172 • RHOA G17V

2years

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T-Cell Lymphoma (ASH 2023)

Low mRNA expression of PHLPP2 predicted poor prognosis (p=.03) and engineered PHLPP2 loss showed enhanced PI(3)K activation and FOXO1 inactivation in CD4+ T-cells in-vitro. Thus, we defined the genomic landscape for AITL, which is largely characterized by epigenetic alterations, TCR signaling and PI3K/AKT dysregulation, which may be amenable for therapeutic targeting.

2 years ago

IO biomarker • Omic analysis

PTEN (Phosphatase and tensin homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CD20 (Membrane Spanning 4-Domains A1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CD163 (CD163 Molecule) • CD4 (CD4 Molecule) • JAK3 (Janus Kinase 3) • RHOA (Ras homolog family member A) • CD68 (CD68 Molecule) • PHLPP1 (PH Domain And Leucine Rich Repeat Protein Phosphatase 1) • SOCS1 (Suppressor Of Cytokine Signaling 1) • STAT1 (Signal Transducer And Activator Of Transcription 1) • VAV1 (Vav Guanine Nucleotide Exchange Factor 1) • HLPP2 (PH Domain And Leucine Rich Repeat Protein Phosphatase 2) • PHLPP2 (PH Domain And Leucine Rich Repeat Protein Phosphatase 2)

IDH2 mutation • DNMT3A mutation • TET2 mutation • KMT2D mutation • JAK3 mutation • IDH2 R172 • RHOA G17V

2years

TP53 and CDKN2A alterations Define a Poor Prognostic Subgroup in Patients with Nodal T-Follicular Helper Cell Lymphoma (ASH 2023)

Particularly, we identified the molecular subgroup with unfavorable prognosis (A53) for which different clinical approach should be warranted. This classification will refine the patient prognostication and stratification in nTFHL.

2 years ago

Clinical • PD(L)-1 Biomarker • IO biomarker

TP53 (Tumor protein P53) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • NOTCH1 (Notch 1) • PD-1 (Programmed cell death 1) • BCL6 (B-cell CLL/lymphoma 6) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • ICOS (Inducible T Cell Costimulator) • RHOA (Ras homolog family member A) • MME (Membrane Metalloendopeptidase) • VAV1 (Vav Guanine Nucleotide Exchange Factor 1)

TP53 mutation • DNMT3A mutation • TET2 mutation • LDH-L • IDH2 R172 • RHOA G17V

over2years

RHOA G17V Potentiates CD28‑Induced NFAT Transcriptional Activity by Modulating p300 Activity: A Step Further in the Understanding of Follicular Helper T‑Cell Lymphoma (SOHO 2023)

Collectively, these findings reveal an unexpected role for RHOA G17V in potentiating CD28 T195P-induced NFAT transcriptional activity through the modulation of p300 HAT activity and expand the notion that epigenetic deregulation contributes to the pathogenesis of TFH lymphomas. Our results suggest that targeting p300 acetyltransferase activity may open new avenues for TFH lymphoma therapies.

over 2 years ago

IO biomarker

CD28 (CD28 Molecule) • RHOA (Ras homolog family member A)

RHOA G17V • RHOA mutation

over2years

The RHOA Mutation G17V Does Not Lead to Increased Migration of Human Malignant T Cells but Is Associated with Matrix Remodelling. (PubMed, Cancers (Basel))

Accordingly, we observed a significant negative correlation between the relative area of collagen in histological sections from 18 primary AITL and the allele frequency of the RHOA-G17V mutation. In conclusion, our results suggest that the characteristic presentation of AITL with early, widespread dissemination of lymphoma cells is not the result of an enhanced migration capacity due to the RHOA-G17V mutation; instead, this feature may rather be related to extracellular matrix remodelling.

over 2 years ago

Journal • IO biomarker

RHOA (Ras homolog family member A)

RHOA G17V • RHOA mutation

over2years

A nodal EBV-positive T cell lymphoma with a T follicular helper cell phenotype. (PubMed, Histopathology)

These two immunocompetent cases of nTFHL with EBV-positive tumour cells exhibit the featured gene mutation profile and poor prognosis of this disease. This novel finding of EBV positivity in our cases expands the currently recognised spectrum of EBV-positive nodal T cell lymphomas to include rare cases of nTFHL.

over 2 years ago

Journal • IO biomarker

TET2 (Tet Methylcytosine Dioxygenase 2) • RHOA (Ras homolog family member A)

RHOA G17V

over2years

Angioimmunoblastic T-cell lymphoma and correlated neoplasms with T-cell follicular helper phenotype: from molecular mechanisms to therapeutic advances. (PubMed, Front Oncol)

New drugs, such as hypomethylating agents (HMAs) and histone deacetylase inhibitors (HDAi), have been used for relapsed/refractory (R/R) disease with promising results. Such agents have their use based on a biological rationale, have significant potential to improve the outcomes of patients with AITL and may represent a paradigm shift in the therapeutic approach to this lymphoma in the near future.

over 2 years ago

Review • Journal

DNMT3A (DNA methyltransferase 1) • IL6 (Interleukin 6) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • RHOA (Ras homolog family member A) • IL21 (Interleukin 21)

DNMT3A mutation • RHOA G17V