Review Article
Implications of Heterogeneity in Multiple Myeloma
Table 5
Driver mutations that may be responsible for clonal evolution in MM.
| Affected gene | Type of mutation | Normal function | Postulated role in disease evolution | Study |
| AFF1 | Damaging | Histone methylation | Driver of Myelomagenesis (found at all disease time points) |
Egan et al. 2012 [61] | RUNX2 | Inactivating | Regulates osteopontin a bone matrix glycoprotein involved in cell survival | HR SMM to MM | Walker et al. 2014 [64] | BRCA2 | Disrupted due to t(13; 21) | DNA repair | HR SMM to MM | Walker et al. 2014 [64] | UNC5D | Inactivating | Induces apoptosis, regulated by p53 | HR SMM to MM | Walker et al. 2014 [64] | ZKSCAN3 | Truncating | Possible effects on VEGF | PCL transformation | Egan et al. 2012 [61] | Rb1 | Truncating | Key tumour suppressor gene | PCL transformation | Egan et al. 2012 [61] |
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VEGF = Vascular endothelial growth factor, PCL = Plasma cell leukaemia, and HR SMM = High risk smouldering multiple myeloma.
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