Calculated VAFs for various genes in DNA samples (blood, saliva, and nails) from patient with MPN
Pt number . | Dx . | Mutations found in blood (VAF) (%) . | Mutations found in saliva (VAF) (%) . | Mutations found in nails (VAF) (%) . |
---|---|---|---|---|
1 | PV | JAK2 V617F (23) | SNA | JAK2 V617F (4) |
2 | PV | JAK2 V617F (25) DNMT3A A771T (10) | JAK2 V617F (23) DNMT3A A771T (7) | NVD |
3 | PV | JAK2 V617F (78) | JAK2 V617F (58) | NVD |
4 | PV | JAK2 V617F (37) | JAK2 V617F (34) | NVD |
5 | ET | CALR 1099_1150del (50) | CALR 1099_1150del (47) | NVD |
6 | ET | JAK2 V617F (6) MPL W515L (4) | JAK2 V617F (8) MPL W515L (7) | SNA |
7 | ET | JAK2 V617F (8) TP53 S241T (3) TP53 T163C (8) | JAK2 V617F (9) TP53 S241T (3) TP53 T163C (8) | SNA |
8 | ET | JAK2 V617F (16) | JAK2 V617F (18) | SNA |
9 | CCUS | SF3B1 L700G (32) | SF3B1 L700G (28) | SNA |
Pt number . | Dx . | Mutations found in blood (VAF) (%) . | Mutations found in saliva (VAF) (%) . | Mutations found in nails (VAF) (%) . |
---|---|---|---|---|
1 | PV | JAK2 V617F (23) | SNA | JAK2 V617F (4) |
2 | PV | JAK2 V617F (25) DNMT3A A771T (10) | JAK2 V617F (23) DNMT3A A771T (7) | NVD |
3 | PV | JAK2 V617F (78) | JAK2 V617F (58) | NVD |
4 | PV | JAK2 V617F (37) | JAK2 V617F (34) | NVD |
5 | ET | CALR 1099_1150del (50) | CALR 1099_1150del (47) | NVD |
6 | ET | JAK2 V617F (6) MPL W515L (4) | JAK2 V617F (8) MPL W515L (7) | SNA |
7 | ET | JAK2 V617F (8) TP53 S241T (3) TP53 T163C (8) | JAK2 V617F (9) TP53 S241T (3) TP53 T163C (8) | SNA |
8 | ET | JAK2 V617F (16) | JAK2 V617F (18) | SNA |
9 | CCUS | SF3B1 L700G (32) | SF3B1 L700G (28) | SNA |
CCUS, clonal cytopenia of undetermined significance (mild anemia with no dysplasia on bone marrow biopsy); Dx, diagnosis; ET, essential thrombocythemia; NVD, no variants detected; Pt, patient; PV, polycythemia vera; SNA, sample not available.