Table 1.
Demographic data | Clinical features | Performed analysis | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
P (#) | Sex (M/F) | Age (y) | AML subtype (FAB) | Moment | Sample type | Blasts (%) | Cytogenetics (FISH) | FLT3 status | Other mutations | TKI treatment | Methods |
1 | M | 71 | M1 | Diagnosis | BM | 80 | 46, XY | L576P | No | Sorafenib | A |
d + 5 | PBMC | 67 (PB) | B | ||||||||
d + 15 | PBMC | 40 (PB) | C | ||||||||
d + 188 | PBMC | 81 (PB) | C | ||||||||
d + 191 | PBMC | 81 (PB) | B | ||||||||
d + 195 | PBMC | 81 (PB) | B | ||||||||
2 | M | 63 | M1 | Diagnosis | BM clot | 93 | 47, XY; der (2;8), +5, −7, +8 | L576Q | No | Sorafenib | D |
Relapse | BM clot | 35 | D | ||||||||
3 | F | 36 | M2 | Diagnosis | BM clot | 77 | 46, XX | ITD | NPM1, DNMT3A, CBL | Midostaurin | D |
Relapse | BM clot | 39 | D | ||||||||
4 | M | 66 | M1 | Relapse | BMMC | 94 | 46, XY; +13,−21 | WT | biCEBPA | No | E |
5 | F | 59 | M5 | Diagnosis | BMMC | 71 | 46, XX; del (8p) | WT | NPM1 | No | E |
6 | M | 76 | M1 | Relapse | BMMC | 40 | 46, XY; −21 | WT | No | No | E |
7 | M | 75 | M1 | Diagnosis | BMMC | 90 | 46, XY; del (8p) | WT | CEBPA | No | E |
8 | F | 57 | M5 | Diagnosis | BMMC | 78 | 47,XX; + 8, inv (16) (p13q22) | WT | CBFB/ MYH11 | No | E |
P (#), patient number; M, male; F, female; y, years; d + , day; PBMC, peripheral blood mononuclear cells; BM, bone marrow; BMMC, bone marrow mononuclear cells; PB, peripheral blood; ITD, internal tandem duplication; WT, wildtype; biCEBPA, biallelic CEBPA mutations; TKI, tyrosine kinase inhibitor; A, whole exome sequencing; B, western blot; C, liquid chromatography tandem-mass spectrometry analysis; D, immunohistochemistry analysis; E, drug sensitivity assay.