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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against specific...

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Related Experiment Video

Updated: Jun 20, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Aleksander Salomon-Perzyński1, Joanna Barankiewicz1, Marcin Machnicki2

  • 1Department of Hematology, Institute of Hematology and Transfusion Medicine, 02-776 Warsaw, Poland.

Biomedicines
|July 27, 2022
PubMed
Summary

Clonal evolution in multiple myeloma (MM) impacts treatment outcomes. Tracking genetic changes revealed that a mutation loss pathway correlates with better therapy response, offering new insights for managing MM progression.

Keywords:
clonal evolutionmultiple myelomanext-generation sequencing

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Clonal evolution is a key driver of treatment failure in multiple myeloma (MM).
  • Understanding genetic alterations during MM progression is crucial for developing effective therapies.

Purpose of the Study:

  • To track genetic changes during multiple myeloma progression using targeted next-generation sequencing.
  • To identify patterns of clonal evolution and their association with treatment response and disease progression.

Main Methods:

  • Targeted next-generation DNA sequencing of a 372-gene panel.
  • Analysis of 69 sequential samples from 30 multiple myeloma patients.
  • Assessment of mutation acquisition/loss and copy number variants.

Main Results:

  • The MAPK/ERK pathway was frequently affected, with KRAS mutations in 47% of patients.
  • Four distinct patterns of mutation evolution were identified: branching, acquisition, loss, and stable.
  • Patients with a mutation loss pathway showed better response to anti-myeloma therapy compared to those with a mutation acquisition pathway.
  • Two-thirds of patients had mutations in druggable genes, even in heavily pre-treated cases.
  • Redefining the Revised International Staging System (R-ISS) at relapse (R-ISS″) correlated with higher risk of progression and death.

Conclusions:

  • Genetic evolution, particularly mutation loss, influences treatment response in multiple myeloma.
  • Targeted sequencing can identify actionable mutations and track clonal dynamics in MM.
  • Redefining R-ISS at relapse is clinically valuable for risk stratification in MM.