A New and Simple TRG Multiplex PCR Assay for Assessment of T‐cell Clonality: A Comparative Study from the EuroClonality Consortium

Armand, Marine; Derrieux, Coralie; Beldjord, Kheïra; Wabeke, Tamara; Lenze, Dido; Boone, Elke; Brüggemann, Monika; Evans, Paul; Gameiro, Paula; Hummel, Michael; Villarèse, Patrick; Groenen, Patricia J.T.A.; Langerak, Anton W.; Macintyre, Elizabeth; Davi, Frédéric

doi:10.1097/hs9.0000000000000255

Cited by 11 publications

(6 citation statements)

References 35 publications

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“…A one-tube CE assay precludes the need for an evaluation of isolated fluorescence signals in more than one distribution, as is the case in the two-tube TRG CE assay. These observations reinforce the need to move away from multitube CE systems for one target as recommended by Cushman-Vokoun et al 9 and as recently discussed by Armand et al 10 The one-tube system is also the preferred design for a TRG HTS assay, first described by Schumacher et al 2 In a single-tube HTS system, only a single calculation is required for defining a clonal result. Whether the clonal read percentage (minimum 4.5%) should be four-fold higher than the polyclonal background 2 or the clonal read percentage (minimum 2.5%) should be five-fold higher than the fourth most abundant clonotype as appropriate criteria for clonality remains to be determined.…”

Section: Trg Testing With Hts Versus Cesupporting

confidence: 60%

Transitioning T-Cell Clonality Testing to High-Throughput Sequencing

Greiner

Bagg

Langerak

2021

The Journal of Molecular Diagnostics

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Section: Trg Testing With Hts Versus Cesupporting

confidence: 60%

Transitioning T-Cell Clonality Testing to High-Throughput Sequencing

Greiner

Bagg

Langerak

2021

The Journal of Molecular Diagnostics

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“…The TRG gene repertoire was investigated by next-generation sequencing (NGS). For library preparation, PCR was performed on 100 ng of genomic DNA with a published protocol ( 63 ), but with adaptation of the primers for a NGS version of the assay (table S16). Dual barcoding of the primers made the simultaneous multiplexing of samples possible.…”

Section: Methodsmentioning

confidence: 99%

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Materna,

Delmonte,

Bosticardo

et al. 2024

Science

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We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive αβ T cell counts but high γδ T cell counts. Although residual pre-TCRα expression drove the differentiation of more αβ T cells, autoimmune conditions were more frequent in these patients compared with the general population.

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“…One of the most important aspects of an EQA scheme is analyzing the outcome of tests. In molecular pathology, testing is not limited to detection of mutations as certain pathologies are caused by fusions of genes or clonal expansion of blood cells; hence, EQA providers also organize schemes for this specific purpose [ 39 , 40 , 41 ].…”

Section: How To Organize Different Types Of Eqa Schemes?mentioning

confidence: 99%

The Significance of External Quality Assessment Schemes for Molecular Testing in Clinical Laboratories

Laudus

Nijs

Nauwelaers

et al. 2022

Cancers

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External quality assessment (EQA) schemes are a tool for clinical laboratories to evaluate and manage the quality of laboratory practice with the support of an independent party (i.e., an EQA provider). Depending on the context, there are different types of EQA schemes available, as well as various EQA providers, each with its own field of expertise. In this review, an overview of the general requirements for EQA schemes and EQA providers based on international guidelines is provided. The clinical and scientific value of these kinds of schemes for clinical laboratories, clinicians and patients are highlighted, in addition to the support EQA can provide to other types of laboratories, e.g., laboratories affiliated to biotech companies. Finally, recent developments and challenges in laboratory medicine and quality management, for example, the introduction of artificial intelligence in the laboratory and the shift to a more individual-approach instead of a laboratory-focused approach, are discussed. EQA schemes should represent current laboratory practice as much as possible, which poses the need for EQA providers to introduce latest laboratory innovations in their schemes and to apply up-to-date guidelines. By incorporating these state-of-the-art techniques, EQA aims to contribute to continuous learning.

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A New and Simple TRG Multiplex PCR Assay for Assessment of T‐cell Clonality: A Comparative Study from the EuroClonality Consortium

Abstract: Supplemental Digital Content is available in the text

Cited by 11 publications

References 35 publications

Transitioning T-Cell Clonality Testing to High-Throughput Sequencing

Transitioning T-Cell Clonality Testing to High-Throughput Sequencing

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

The Significance of External Quality Assessment Schemes for Molecular Testing in Clinical Laboratories

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