Read the clonotype: Next-generation sequencing-based lymphocyte clonality analysis and perspectives for application in pathology

Groenen, Patricia J.T.A.; Brand, Michiel van den; Kroeze, Leonie I.; Amir, Avital L.; Hebeda, Konnie M.

doi:10.3389/fonc.2023.1107171

Cited by 1 publication

(1 citation statement)

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“…In conventional clonality analysis, comparison based on clonal peak sizes can be inaccurate due to small sequence changes caused by mutations and technical artifacts [ 50 , 70 ]. To conclude that two lymphoproliferations are clonally related generally requires identical peak sizes in at least two targets [ 34 ]. With NGS-based clonality analysis, the exact sequences can be compared which allows clonal comparison from a single target.…”

Section: Clonality Analysismentioning

confidence: 99%

Diagnostic and prognostic molecular pathology of lymphoid malignancies

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van den Brand,

Groenen

et al. 2023

Virchows Arch

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With the explosion in knowledge about the molecular landscape of lymphoid malignancies and the increasing availability of high throughput techniques, molecular diagnostics in hematopathology has moved from isolated marker studies to a more comprehensive approach, integrating results of multiple genes analyzed with a variety of techniques on the DNA and RNA level. Although diagnosis of lymphoma still relies on the careful integration of clinical, morphological, phenotypic, and, if necessary molecular features, and only few entities are defined strictly by genetic features, genetic profiling has contributed profoundly to our current understanding of lymphomas and shaped the two current lymphoma classifications, the International Consensus Classification and the fifth edition of the WHO classification of lymphoid malignancies. In this review, the current state of the art of molecular diagnostics in lymphoproliferations is summarized, including clonality analysis, mutational studies, and gene expression profiling, with a focus on practical applications for diagnosis and prognostication. With consideration for differences in accessibility of high throughput techniques and cost limitations, we tried to distinguish between diagnostically relevant and in part disease-defining molecular features and optional, more extensive genetic profiling, which is usually restricted to clinical studies, patients with relapsed or refractory disease or specific therapeutic decisions. Although molecular diagnostics in lymphomas currently is primarily done for diagnosis and subclassification, prognostic stratification and predictive markers will gain importance in the near future.

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Section: Clonality Analysismentioning

confidence: 99%