Prevalence of the GFI1-36N SNP in Multiple Myeloma Patients and Its Impact on the Prognosis

Cyrus Khandanpour, Christine Eisfeld, Subbaiah Chary Nimmagadda, Marc S Raab, Niels Weinhold, Anja Seckinger, Dirk Hose, Anna Jauch, Asta Försti, Kari Hemminki, Thomas Hielscher, Manuela Hummel, Georg Lenz, Hartmut Goldschmidt, Stefanie Huhn

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Transcription factor Growth Factor Independence 1 (GFI1) regulates the expression of genes important for survival, proliferation and differentiation of hematopoietic cells. A single nucleotide polymorphism (SNP) variant of GFI1 (GFI1-36N: serine replaced by asparagine at position 36), has a prevalence of 5-7% among healthy Caucasians and 10-15% in patients with myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML) predisposing GFI-36N carriers to these diseases. Since GFI1 is implicated in B cell maturation and plasma cell (PC) development, we examined its prevalence in patients with multiple myeloma (MM), a haematological malignancy characterized by expansion of clonal PCs. Strikingly, as in MDS and AML, we found that the GFI1-36N had a higher prevalence among MM patients compared to the controls. In subgroup analyses, GFI1-36N correlates to a shorter overall survival of MM patients characterized by the presence of t(4;14) translocation and gain of 1q21 (≤3 copies). MM patients carrying gain of 1q21 (≥3 copies) demonstrated poor progression free survival. Furthermore, gene expression analysis implicated a role for GFI1-36N in epigenetic regulation and metabolism, potentially promoting the initiation and progression of MM.

Original languageEnglish
Article number757664
Number of pages8
JournalFrontiers in Oncology
Publication statusPublished - 25 Oct 2021

Bibliographical note

Copyright © 2021 Khandanpour, Eisfeld, Nimmagadda, Raab, Weinhold, Seckinger, Hose, Jauch, Försti, Hemminki, Hielscher, Hummel, Lenz, Goldschmidt and Huhn.


  • Gfi1
  • SNP variant
  • multiple myeloma
  • prevalance
  • prognosis


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