BioMed Research International / 2014 / Article / Tab 5

Review Article

Implications of Heterogeneity in Multiple Myeloma

Table 5

Driver mutations that may be responsible for clonal evolution in MM.

Affected geneType of mutationNormal functionPostulated role in disease evolutionStudy

AFF1 DamagingHistone methylationDriver of Myelomagenesis
(found at all disease time points)
Egan et al. 2012 [61]
RUNX2InactivatingRegulates osteopontin a bone matrix glycoprotein involved in cell survivalHR SMM to MM Walker et al. 2014 [64]
BRCA2Disrupted due to t(13; 21)DNA repair HR SMM to MMWalker et al. 2014 [64]
UNC5DInactivatingInduces apoptosis, regulated by p53HR SMM to MMWalker et al. 2014 [64]
ZKSCAN3Truncating Possible effects on VEGFPCL transformationEgan et al. 2012 [61]
Rb1TruncatingKey tumour suppressor genePCL transformationEgan et al. 2012 [61]

VEGF = Vascular endothelial growth factor, PCL = Plasma cell leukaemia, and HR SMM = High risk smouldering multiple myeloma.