The mutagenic impact of melphalan in multiple myeloma

Francesco Maura, Niels Weinhold, Benjamin Diamond, Dickran Kazandjian, Leo Rasche, Gareth Morgan, Ola Landgren

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


The introduction of whole genome and exome sequencing partnered with advanced bioinformatic pipelines has allowed the comprehensive characterization of mutational processes (i.e., mutational signatures) in individual cancer patients. Studies focusing on multiple myeloma have defined several mutational processes, including a recently identified mutational signature (called “SBS-MM1”) directly caused by exposure to high-dose melphalan (i.e., autologous stem cell transplant). High-dose melphalan exposure increases both the overall and nonsynonymous mutational burden detected between diagnosis and relapse by ~10–20%. Nevertheless, most of these mutations are acquired within the heterochromatin and late-replicating regions, rarely involving key myeloma driver genes. In this review, we summarize key studies that made this discovery possible, and we discuss potential clinical implications.

Original languageEnglish (US)
Pages (from-to)2145-2150
Number of pages6
Issue number8
StatePublished - Aug 2021

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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