Table 1

Proportion of patients carrying somatic mutations of SF3B1 in the study population

WHO categoryNo. of patients studiedNo. of sequencing failures*No. of evaluable patientsNo. (%) of patients carrying SF3B1 mutations
MDS     
    RA 135 13 122 14 (11.5) 
    RARS 107 105 83 (79.0) 
    RCMD 102 96 6 (6.3) 
    RCMD-RS 54 52 30 (57.7) 
    RAEB-1 87 83 7 (8.4) 
    RAEB-2 57 53 6 (11.3) 
    MDS del(5q) 22 22 4 (18.2) 
    MDS total 564 31 533 150 (28.1) 
MDS/MPN     
    CMML 67 62 4 (6.5) 
    RARS-T 18 18 12 (66.7) 
    MDS/MPN, U 
AML secondary to MDS 40 38 2 (5.3) 
All patients studied 692 38 654 168 (25.7) 
WHO categoryNo. of patients studiedNo. of sequencing failures*No. of evaluable patientsNo. (%) of patients carrying SF3B1 mutations
MDS     
    RA 135 13 122 14 (11.5) 
    RARS 107 105 83 (79.0) 
    RCMD 102 96 6 (6.3) 
    RCMD-RS 54 52 30 (57.7) 
    RAEB-1 87 83 7 (8.4) 
    RAEB-2 57 53 6 (11.3) 
    MDS del(5q) 22 22 4 (18.2) 
    MDS total 564 31 533 150 (28.1) 
MDS/MPN     
    CMML 67 62 4 (6.5) 
    RARS-T 18 18 12 (66.7) 
    MDS/MPN, U 
AML secondary to MDS 40 38 2 (5.3) 
All patients studied 692 38 654 168 (25.7) 
*

Failure was the result of insufficient sequence coverage.

RCMD-RS was a separate MDS category in the 2001 WHO classification of myeloid neoplasms21  but was incorporated into RCMD in the 2008 WHO classification.2,3 

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