Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1

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...

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Detalles Bibliográficos
Autores principales: Zhou, Xiang, Han, Seungbin, Cebulla, Nadine, Haertle, Larissa, Steinhardt, Maximilian J., Schirmer, Daniel, Runau, Eva, Flamm, Leon, Terhorst, Calvin, Jähnel, Laura, Vogt, Cornelia, Nerreter, Silvia, Teufel, Eva, Stanojkovska, Emilia, Mersi, Julia, Munawar, Umair, Schindehütte, Magnus, Blum, Robert, Reinhold, Ann-Kristin, Scherf-Clavel, Oliver, Rittner, Heike L., Pham, Mirko, Rasche, Leo, Einsele, Hermann, Sommer, Claudia, Kortüm, K. Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189922/
https://www.ncbi.nlm.nih.gov/pubmed/37194045
http://dx.doi.org/10.1186/s40364-023-00490-9
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40364-023-00490-9.

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