Table 2:
Disease profile of patients with discordant results on tandem assessment immediately before HCT
| Assessment at diagnosis | RD assessment pre HCT | Post HCT | |||||
|---|---|---|---|---|---|---|---|
| Patient | Cytogenetics | Mutations | CR/CRi | MFC MR (%) | Mutations | VAF (%) | Relapse |
| MFC negative and multi gene NGS positive (F−M+) ^ | |||||||
| 1 | 47,XY,+13[21] | DNMT3A p.R882C | CR | 0 | DNMT3A p.R882C | 11.09 | no |
| 2 | 46,XX[20] | NP | CR | 0 | DNMT3A p.R882H | 14.21 | yes |
| 3 | 46,XY,t(X;19), del9(q) |
DNMT3A p.804L TET2 p.M1333fs |
CR | 0 |
DNMT3A p.804L TET2 p.M1333fs |
20.41 13.30 |
no |
| FLT3-ITD# | FLT3-ITD | <5%# | |||||
| 4 | 47,XX,+8[9] | CRi | 0 | SUZ12 p.H6D | 12.31 | no | |
| MFC positive and multi gene NGS negative (F+M−) * | |||||||
| 1 | 46, XX [20] | DNMT3A p.Q402X | CR | 0.35 | DNMT3A p.Q402X | 0.38 | no |
| NRAS p.G12D, | NRAS p.G12D, | 0.00 | |||||
| IDH1 p.R132H | IDH1 p.R132H | 0.00 | |||||
| NPM1 p.L287fs | NPM1 p.L287fs | 0.00 | |||||
| 2 | 46,XX,inv(16) (p13q22 [20] | WT1 p.1H469N | CRi | 0.01 | WT1 p.H469N | 0.00 | no |
| 3 | Complex§ |
NRAS p.Q61K TP53 p.R333fs |
CR | 2.00 |
NRAS p.Q61K TP53 p.R333fs |
0.11 0.22 |
no |
| TP53 p.N210fs | TP53 p.N210fs | 0.10 | |||||
| 4 | 46,XY[20] | IDH1 p.R132H | CRi | 1.20 | IDH1 p.R132H | 0.09 | no |
| TET2 p.P409A | TET2 p.P409A | 3.91 | |||||
| 5 | 46,XY[20] | IDH2 p.R172K | CR | 1.60 | IDH2 p.R172K | 0.15 | no |
| ASXL1 p.T880fs | ASXL1 p.T880fs | 0.00 | |||||
| TET2 p.I873T | TET2 p.I1873T | 0.17 | |||||
| 6 | 46,XX[20] | TET2 p.I1873T | CR | 2.00 | TET2 p.I1873T | 0.19 | no |
| 7 | 46,XY[20] | NPM1 p.L287fs | CR | 1.50 | NPM1 p.L287fs | 0.00 | no |
| FLT3-ITD# | FLT3-ITD | <5%# | |||||
| 8 | 46,XY[20] | IDH p.R132H | CR | 0.28 | IDH p.R132H | 0.46 | no |
NP: not performed, CR: complete remission, CRi: complete remission with incomplete count recovery, VAF: variant allele frequency, MFC multiparameter flow cytometry
All 4 patients in the F−M+ group are presented in the table.
Eight patients in the F+M− group had somatic profiling performed at diagnosis that identified mutations which could be tracked. Of the remaining 6 patients in the F+M− group, 5 did not have somatic mutation profiling performed at AML diagnosis and 1 had no mutations called at the time of diagnosis when assessed using the same NGS assay.
FLT3-ITD assessment was performed using a qualitative stand-alone PCR assay with a sensitivity of 5%, hence VAF is not reported.
43–45,X,-X,+3,del(5)(q?15q?33),−7,?del(13)(q12q14),−15,add(16)(q24),−18,−4mar