Biomarker Research (May 2023)

Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1

  • Xiang Zhou,
  • Seungbin Han,
  • Nadine Cebulla,
  • Larissa Haertle,
  • Maximilian J. Steinhardt,
  • Daniel Schirmer,
  • Eva Runau,
  • Leon Flamm,
  • Calvin Terhorst,
  • Laura Jähnel,
  • Cornelia Vogt,
  • Silvia Nerreter,
  • Eva Teufel,
  • Emilia Stanojkovska,
  • Julia Mersi,
  • Umair Munawar,
  • Magnus Schindehütte,
  • Robert Blum,
  • Ann-Kristin Reinhold,
  • Oliver Scherf-Clavel,
  • Heike L. Rittner,
  • Mirko Pham,
  • Leo Rasche,
  • Hermann Einsele,
  • Claudia Sommer,
  • K. Martin Kortüm

DOI
https://doi.org/10.1186/s40364-023-00490-9
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

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Abstract We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also had a homozygous mutated rs915854 genotype. Homozygous mutated genotypes of rs2839629 and rs915854 were significantly enriched in patients with painful peripheral neuropathy (PNP) (P < 0.0001), and homozygous mutated rs2839629 genotype was significantly enriched in patients with pain compared to patients with no pain (P = 0.04). In summary, both SNPs rs2839629 and/or rs915854 may be potential biomarkers predicting an increased risk to develop painful PNP under bortezomib.

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