Table 3

Abundance of patient-specific TET2 mutations across different tissues

% relative mutation abundance
PatientBMCD34+CD3+Skin
2984 50 40 22 
2236 51/42 37/35 36/36 8/4 
1932* 98 49 15 
2859 39/41 46/42 30/34 2/5 
1619 45/35 40/30 26/17 6/2 
1684 46 42 na 
2719 71/20 60/21 54/18 na 
1490 49/43 25/27 19/15 5/7 
1625 45 45 26 
1326 49 42 
1444 48/37 43/27 27/25 na 
2222 26 32 
% relative mutation abundance
PatientBMCD34+CD3+Skin
2984 50 40 22 
2236 51/42 37/35 36/36 8/4 
1932* 98 49 15 
2859 39/41 46/42 30/34 2/5 
1619 45/35 40/30 26/17 6/2 
1684 46 42 na 
2719 71/20 60/21 54/18 na 
1490 49/43 25/27 19/15 5/7 
1625 45 45 26 
1326 49 42 
1444 48/37 43/27 27/25 na 
2222 26 32 

TET2 mutations are an early event. Twelve patients who were found to have mutant TET2 clones within their bone marrow tissue were also screened for mutation status within paired germline (skin), CD34+, and CD3+ T-cell tissue, where available. Data for % relative mutation abundance (RMA) refers to the same mutation(s) across different tissues for any 1 patient. The median RMA for all patients is 43% for bone marrow, 38.5% CD34+ cells, 23.5% for CD3+ cells, and 5% for germline (skin) tissue. Data for individual RMA readings is an average based on at least 2 independent experiments. Patients with more than 1 mutation are denoted as n/n RMA.

*

Higher mutation abundance in total bone marrow than CD34+ cells, consistent with a genomic aberration rendering the TET2 locus hemizygous after differentiation.

High abundance of mutation within the T-cell population.

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