Comprehensive genomic testing is required to assess for markers of poor prognosis in multiple myeloma

Webb, F.; Talaulikar, Dipti

doi:10.1016/j.pathol.2021.03.004

Cited by 2 publications

(1 citation statement)

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“…Besides clinical parameters, myeloma-related FISH is used in current routine diagnostic testing as an initial evaluation to investigate the specific cytogenetics and copy-number variants (CNVs) [ 19 ]. However, these techniques do not include the detection of other genetic lesions such as single nucleotide variants (SNVs) [ 20 , 21 ]. As demonstrated by next generation sequencing (NGS), somatic point mutations not only form the genetic landscape of MM but also of the pre-stages MGUS and SMM.…”

Section: Introductionmentioning

confidence: 99%

The Dynamics of Nucleotide Variants in the Progression from Low–Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing Approach

Oben

Cosemans

Geerdens

et al. 2022

Cancers

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Multiple myeloma (MM), or Kahler’s disease, is an incurable plasma cell (PC) cancer in the bone marrow (BM). This malignancy is preceded by one or more asymptomatic precursor conditions, monoclonal gammopathy of undetermined significance (MGUS) and/or smoldering multiple myeloma (SMM). The molecular mechanisms and exact cause of this progression are still not completely understood. In this study, the mutational profile underlying the progression from low–intermediate risk myeloma precursor conditions to MM was studied in serial BM smears. A custom capture-based sequencing platform was developed, including 81 myeloma-related genes. The clonal evolution of single nucleotide variants and short insertions and deletions was studied in serial BM smears from 21 progressed precursor patients with a median time of progression of six years. From the 21 patients, four patients had no variation in one of the 81 studied genes. Interestingly, in 16 of the 17 other patients, at least one variant present in MM was also detected in its precursor BM, even years before progression. Here, the variants were present in the pre-stage at a median of 62 months before progression to MM. Studying these paired BM samples contributes to the knowledge of the evolutionary genetic landscape and provides additional insight into the mutational behavior of mutant clones over time throughout progression.

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Section: Introductionmentioning

confidence: 99%