The utility and limitations of B- and T-cell gene rearrangement studies in evaluating lymphoproliferative disorders

Copyright © 2020 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved..

A hallmark of lymphoid malignancies is the presence of a monoclonal lymphocyte population. Monoclonality of B- and T-cell populations can be established through immunoglobulin (IG) or T-cell receptor (TCR) gene rearrangement analysis, respectively. The biological rationale of IG and TCR gene rearrangement analysis is that due to the extensive combinatorial repertoire made possible by V(D)J recombination in lymphocytes, it is unlikely that any substantive lymphocyte population would share the same IG or TCR gene rearrangement pattern unless there is an underlying neoplastic or reactive origin. Modern IG and TCR gene rearrangement analysis is typically performed by polymerase chain reaction (PCR) using commercially available primer sets followed by gel capillary electrophoresis. This process is highly sensitive in the detection of nearly all lymphoid malignancies. Several pitfalls and limitations, both biological and technical, apply to IG/TCR gene rearrangement analysis, but these can be minimised with high quality controls, performance of assays in duplicate, and adherence to strict criteria for interpreting and reporting results. Next generation sequencing (NGS) will likely replace PCR based methods of IG/TCR gene rearrangement analysis but is not yet widespread due to the absence of standardised protocols and multicentre validation.

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:53

Enthalten in:

Pathology - 53(2021), 2 vom: 15. Feb., Seite 157-165

Sprache:

Englisch

Beteiligte Personen:

Mendoza, Hadrian [VerfasserIn]
Tormey, Christopher A [VerfasserIn]
Rinder, Henry M [VerfasserIn]
Howe, John G [VerfasserIn]
Siddon, Alexa J [VerfasserIn]

Links:

Volltext

Themen:

B-cell receptor
Gene rearrangement
Journal Article
Lymphoproliferative disorders
Polymerase chain reaction
Receptors, Antigen, T-Cell
Receptors, Cell Surface
Review
T-cell receptor

Anmerkungen:

Date Completed 22.10.2021

Date Revised 22.10.2021

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1016/j.pathol.2020.09.024

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM319230864