NGS Analysis of Clonality and Minimal Residual Disease in a Patient with Concurrent Richter’s Transformation and CLL/SLL
Table 2
Minimal residual disease detection by NGS.
Specimen
Input DNA (ng)
Total reads
Reads
Clonal cell eq. per input DNA
Clonal cell eq. per 1000 ng
Tumor clone, interpretation
Clonal
LQ
(%) clonal
(%) LQ
Diagnostic BM
100
365953
321793
5352
87.93
1.46
6013
60126
Detected
After R-CHOP BM
1000
743431
22865
26454
3.08
3.56
86
86
Detected
After R-CHOP PB
1000
177177
5487
70158
3.10
39.60
8
8
Detected
Post Tx PB, TDNA, day 30
1000
220346
8
33874
0.0036
15.37
0.024
0.024
Detected
After Tx PB, CD19+ DNA, day 30
500
2049647
22
35956
0.001
1.754
0.061
0.122
Detected
After Tx PB, TDNA, day 60
250
173948
0
4099
0
2.28
0
0
Not detected
After Tx PB, CD19+ DNA, day 60
250
301327
0
1652
0
0.55
0
0
Not detected
DNA input, total reads, % clonal or LQ reads, and clonal cell equivalents/1000 ng of DNA are shown. BM: bone marrow, PB: peripheral blood, TDNA: total DNA, CD19+: DNA from isolated CD19+ B cells, and Tx: allotransplant.
