Clinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil E., Gerstung M., Malcovati L., Tauro S., Gundem G., Van Loo P., Yoon CJ., Ellis P., Wedge DC., Pellagatti A., Shlien A., Groves MJ., Forbes SA., Raine K., Hinton J., Mudie LJ., McLaren S., Hardy C., Latimer C., Della Porta MG., O’Meara S., Ambaglio I., Galli A., Butler AP., Walldin G., Teague JW., Quek L., Sternberg A., Gambacorti-Passerini C., Cross NCP., Green AR., Boultwood J., Vyas P., Hellstrom-Lindberg E., Bowen D., Cazzola M., Stratton MR., Campbell PJ.
Key Points MDS is characterized by mutations in >40 genes, a complex structure of gene-gene interactions and extensive subclonal diversification. The total number of oncogenic mutations and early detection of subclonal mutations are significant prognostic variables in MDS.