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Recurrent mutations of MAPK pathway genes in multiple myeloma but not in amyloid light-chain amyloidosis

Seok Jin Kim1, Hyun-Tae Shin2, Hae-Ock Lee2

  • 1Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Oncotarget
|September 17, 2016
PubMed

Insights

Targeted gene sequencing in myeloma patients identified common mutations in NRAS, KRAS, and BRAF, suggesting potential prognostic value. This approach may improve treatment efficacy by revealing actionable genomic alterations.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Improving treatment efficacy for myeloma patients relies on identifying actionable genomic alterations.
  • High-depth targeted sequencing platforms offer potential for clinical application.

Purpose of the Study:

  • To investigate actionable genomic alterations and cytogenetic abnormalities in myeloma patients using targeted gene sequencing.
  • To assess the presence of mutations in key cancer genes within myeloma and amyloid light-chain (AL) amyloidosis patient cohorts.

Main Methods:

  • Genomic DNA was extracted from bone marrow aspirates of 23 myeloma and 12 AL amyloidosis patients.
  • A high-depth targeted sequencing panel comprising 83 anti-cancer drug target genes was employed.
  • Mutation analysis focused on identifying alterations in genes including NRAS, KRAS, and BRAF, and assessing cytogenetic abnormalities.

Main Results:

  • NRAS mutations were most frequent (30%) in myeloma patients, followed by KRAS (26%) and BRAF (22%).
  • No significant mutations were detected in the AL amyloidosis cohort.
  • Six myeloma patients exhibited multi-gene mutations within the Mitogen activated protein kinase (MAPK) pathway (NRAS, KRAS, or BRAF).
  • Gene panel sequencing identified cytogenetic abnormalities relevant to myeloma prognosis.

Conclusions:

  • Targeted gene sequencing is a valuable tool for identifying actionable genomic alterations in myeloma.
  • The study highlights the prognostic significance of detecting specific gene mutations and cytogenetic aberrations.
  • This approach may enhance treatment strategies for myeloma by providing personalized genomic insights.
Keywords:
MAPK pathwayamyloidosiscancer panelmultiple myeloma

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