Related Experiment Video
Updated: Jul 22, 2026
HPLC-based Assay to Monitor Extracellular Nucleotide/Nucleoside Metabolism in Human Chronic Lymphocytic Leukemia Cells
Published on: July 20, 2016
Clinical impact of molecular diagnostics in low-grade lymphoma
Mariem Bahloul1, Vahid Asnafi, Elizabeth Macintyre
1Biological Hematology, Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743 Paris Cedex 15, France.
Insights
Molecular diagnostics for low-grade B-cell lymphoma utilize PCR for lymphoid clonality and genetic markers. These methods aid diagnosis, staging, and monitoring, with evolving strategies for better patient stratification.
Area of Science:
- Hematology
- Oncology
- Molecular Diagnostics
Background:
- Current molecular diagnostics for low-grade B-cell lymphoma rely on polymerase chain reaction (PCR) for lymphoid clonality and molecular genetic markers.
- Lymphoid clonality detection involves immunoglobulin (Ig) and/or T cell receptor (TCR) rearrangements, crucial for differentiating malignant from reactive lymphoproliferation.
Purpose of the Study:
- To review current molecular diagnostic strategies for low-grade B-cell lymphoma.
- To highlight the importance of material conservation for evolving diagnostic techniques.
- To discuss the future of therapeutic stratification based on multiparameter genetic and immunological analysis.
Main Methods:
- Polymerase chain reaction (PCR) for detecting clonal Ig/TCR rearrangements.
- PCR for molecular (onco)genetic markers resulting from chromosomal translocations.
- Consideration of alternative techniques like fluorescent in situ hybridisation and immunohistochemistry.
Main Results:
- Standardized DNA-based Ig/TCR strategies have improved informativity but remain dependent on tumor subtype and IgH somatic mutation rate.
- PCR for genetic markers can be limited by breakpoint heterogeneity and low-level informativity, making alternative methods preferable in some cases.
- Conservation of unfixed material is critical due to the rise of RNA-based diagnostics and transcriptional profiling.
Conclusions:
- Effective molecular diagnostics require appropriate material conservation, especially for RNA-based analyses.
- Therapeutic stratification will increasingly rely on multiparameter genetic and immunological assessments.
- Optimal application of diverse analytical techniques necessitates specialized diagnostic platforms and an interdisciplinary approach.
Abstract:
Molecular diagnostics in low grade B cell lymphoma is currently based on polymerase chain reaction (PCR) detection of lymphoid clonality or of molecular (onco)genetic markers that result from chromosomal translocations. The former is based on detection of clonal immunoglobulin (Ig) and/or T cell receptor (TCR) rearrangements, which can be used for distinguishing between malignant and reactive lymphoproliferation, for staging, for comparison of diagnostic and relapse material and for minimal residual disease assessment. Informativity has risen with the development of improved, standardised DNA-based Ig/TCR strategies but remains dependent on tumour subtype, largely as a function of the rate of IgH somatic mutation. PCR-based detection of molecular genetic markers can aid diagnosis, although genetic breakpoint heterogeneity and low level molecular informativity means that alternative techniques, such as fluorescent in situ hybridisation or immunohistochemistry of the deregulated genes, can be preferable. Appropriate molecular diagnostic practise is entirely dependent on the conservation of appropriate material, with the increasing tendency for RNA based diagnostics, particularly for transcriptional profiling, rendering tissue banking of unfixed material extremely important. Therapeutic stratification of patients with low grade lymphoma is likely to be increasingly based on multiparameter genetic and/or immunological analysis, with monoparameter targets being reserved for follow-up. Appropriate use of the increasing number of analytical techniques available is best applied in specialised diagnostic platforms with a complementary, interdisciplinary approach that can be adapted to the clinical situation.
