Journal Article

DKFZ-2021-02474

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Prevalence of the GFI1-36N SNP in Multiple Myeloma Patients and Its Impact on the Prognosis.

Khandanpour, C. ; Eisfeld, C. ; Nimmagadda, S. C. ; Raab, M. S. ; Weinhold, N. ; Seckinger, A. ; Hose, D. ; Jauch, A. ; Försti, A.DKFZ* ; Hemminki, K.DKFZ* ; Hielscher, T.DKFZ* ; Hummel, M.DKFZ* ; Lenz, G. ; Goldschmidt, H. ; Huhn, S.

2021
Frontiers Media Lausanne

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Please use a persistent id in citations: doi:10.3389/fonc.2021.757664

Abstract: 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.

Keyword(s): Gfi1 ; SNP variant ; multiple myeloma ; prevalance ; prognosis

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)
3. Molekular-Genetische Epidemiologie (C050)
4. C060 Biostatistik (C060)

Research Program(s):

1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2021

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