Table 1.
Summary of 50 patients in this study.
| No. | Sex/Age | Diagnosis | Cytogenetics | Conventional molecular testing | NGS myeloid panel | Clinical outcome |
|---|---|---|---|---|---|---|
| 1 | M/56 | AML-NOS* | Not done | FLT3- | KIT p.D816V | Alive on treatment |
| 2 | F/37 | M1 | Near-tetraploid and complex | NPM-, FLT3- | TP53 p.E62* | Treated in Mainland China |
| 3 | M/60 | High grade MDS | Normal | FLT3-ITD (189 bp), del(5q) FISH- | FLT3 ITD (189 bp) | Alive in CR after BMT |
| 4 | F/83 | M6 | No growth | FLT3-ITD-TKD+ | FLT3 p.D835Y | Died |
| 5 | M/58 | High grade MDS | Complex > 3 abnormality | NPM1-, FLT3- | Negative | Died after BMT |
| 6 | M/57 | AML-TMDS | Normal | NPM1-, FLT3- | DNMT3A p.E423* | Died of relapse after BMT |
| IDH2 p.R140Q | ||||||
| STAG2 p.R259* | ||||||
| 7 | F/66 | AML-TMDS | Normal | NPM1+, FLT3-ITD-TKD+ | FLT3 p.D835Y | Died of CNS disease |
| NPM1 p.W288Cfs*12 | ||||||
| 8 | F/49 | Refractory AML | Not done | FLT3- | SF3B1 p.K666E | Died |
| 9 | F/35 | M2 | inv(16) | KIT+ | KIT p.D816V | Alive in CR after BMT |
| 10 | F/44 | M4 | Normal | NPM+, FLT3- | NPM1 p.W288Cfs*12 | Alive in CR |
| 11 | F/82 | M5a | No growth | FLT3- | Negative | Died |
| 12 | F/25 | M2 | No growth | AML1-ETO-, NPM1-, FLT3-, KIT- | Negative | Alive in CR |
| 13 | F/76 | AML transformed from MDS | No growth | FLT3-, del(5q) FISH-, BCR-ABL1- | Negative | Died |
| 14 | F/52 | M1 | +14 | NPM1-, FLT3- | CSF3R p.T816I | Lost to follow up |
| IKZF1 p.R111* | ||||||
| IDH2 p.R140Q | ||||||
| STAG2 p.R1012* | ||||||
| 15 | M/82 | M1 | add(3q), add(7q), +8, | FLT3-, BCR-ABL- | Negative | Died |
| 16 | F/59 | M6 | Poor growth | NPM1+, FLT3- | NPM1 p.W288Cfs*12 | Died |
| ETV6 p.Y346* | ||||||
| IDH2 p.R140W | ||||||
| 17 | F/78 | M2 | +10 | NPM1-, FLT3-, AML1-ETO-, PML-RARA- | IDH1 p.R132C | In CR with vidaza and died of second cancer |
| 18 | M/61 | AML transformed from CMML | Poor growth | FLT3-, del(5q) FISH-, PDGFRB FISH-, BCR-ABL- | CSF3R p.T618I | Died |
| CEBPA p.Y67* | ||||||
| 19 | F/64 | AML-NOSb | Normal | NPM1+, FLT3 ITD-TKD+ | NPM1 p.W288Cfs*12 | Died |
| FLT3 p.D835Y | ||||||
| DNMT3A p.W313* | ||||||
| SMC3 c.3105 + 2 T > C | ||||||
| RAD21 p.Q132* | ||||||
| 20 | M/54 | M1 | Normal | NPM1+, FLT3- | NPM1 p.W288Cfs*12 | Alive in CR |
| IDH1 p.R132H | ||||||
| FLT3 ITD (25 bp) | ||||||
| FLT3 ITD (119 bp) | ||||||
| 21 | M/44 | M1 | Constitutional inv(9) | FLT3-, BCR-ABL- | Negative | Died. History of HD treated by BEACOPP |
| 22 | F/44 | M2 | Not done | FLT3 ITD + TKD- | NPM1 p.W288Cfs*12 | Died |
| RAD21 c.1161 + 2 T > A | ||||||
| FLT3 ITD (72 bp) | ||||||
| 23 | F/33 | M2 therapy-related | Poor growth | NPM1-, FLT3- | Negative | Died. History of treated breast cancer |
| 24 | F/26 | M3 | No growth | PML-RARA(s)+, FLT3 ITD + TKD- | FLT3 ITD (33 bp) | Alive in CR |
| 25 | M/65 | M5a | +8 | NPM1-, FLT3 ITD + TKD- | FLT3 ITD (54 bp) | Died |
| 26 | F/74 | M0 | +22 | CBFB-MYH11- NPM1- FLT3- BCR-ABL1- | Negative | Alive in CR and maintained on monthly vidaza |
| 27 | F/77 | AML-TMDS | +8 | Not done | Negative | Lost to follow up. History of lung cancer |
| 28 | M/18 | M2 | t(8;21),-Y | AML1-ETO+, KIT-, NPM1-, FLT3- | Negative | Alive in CR |
| 29 | F/61 | AML-NOSa | Poor growth | NPM1-, FLT3 ITD-TKD+, BCR-ABL-, AML1-ETO- | FLT3 p.D835Y | Alive in CR |
| 30 | F/39 | M2 | +8 | AML1-ETO-, NPM+, FLT3- | NPM1 p.W288Cfs*12 | Alive in CR |
| NRAS p.G12D | ||||||
| 31 | M/70 | M1 | Normal | NPM-, FLT3-, PDGFRB FISH-, FIP1L1-PDGFRA-, BCR-ABL-, | TET2 p.S1848* | NR to vidaza. Further treatment in Mainland China |
| TET2 p.G1152E | ||||||
| JAK2 V617F weak+ | JAK2 p.V617F (VAF 4.1 %, below original reportable threshold) | |||||
| 32 | F/80 | M2 | del(5q), +8 | Not done | IDH1 p.R132C | Alive and on vidaza |
| TET2 p.K693Nfs*18 | ||||||
| TP53 p.R249S | ||||||
| ASXL1 p.W960* | ||||||
| 33 | F/68 | M4 | Normal | FLT3- | NPM1 p.W288Cfs*12 | Difficult CR and on vidaza |
| TET2 p.L346Rfs*2 | ||||||
| 34 | F/24 | M2 | t(8;21) | AML1-ETO+, BCR-ABL-, PML-RARA-, NPM1-, FLT3- | Negative | Alive in CR |
| 35 | M/60 | M5a | +8 | Not done | NPM1 p.W288Cfs*12 | Alive on treatment |
| PTPN11 p.G503A | ||||||
| ASXL1 p.G646Wfs*12 | ||||||
| 36 | F/62 | M1 | Normal | AML1-ETO-, BCR-ABL1-, PML-RARA-, NPM1+, FLT3 ITD+ in cis with 3 bp deletion (c.1739_1741delAGG) | NPM1 p.W288Cfs*12 | CR for 1 year. Relapsed on treatment |
| FLT3 p.Q580_V581delinsL (c.1739_1741delAGG) | ||||||
| FLT3 ITD (54 bp) | ||||||
| FLT3 ITD (63 bp) | ||||||
| IDH2 p.R140Q | ||||||
| 37 | F/46 | M4 | Near-tetraploid | AML-ETO-, BCR-ABL1-, | FLT3 p.D835Y | Responded to sorafenib and HHT. Received BMT from sibling donor and on treatment |
| FLT3 ITD+ (30 bp), FLT3 TKD+ | FLT3 ITD (30 bp) | |||||
| 38 | M/66 | AML-TMDS | Complex > 3 abnormalities | FLT3-, BCR-ABL1-, JAK2 V617F- | DNMT3A p.M801Nfs*11 | Alive on vidaza. History of lung cancer |
| TP53 p.R175H | ||||||
| 39 | F/62 | AML-M5 post-BMT relapse | Complex > 3 abnormalities | Not done | TP53 p.Y220C | Died |
| 40 | M/62 | M5a transformed from MDS | Normal | NPM1+, FLT3-, MLL FISH- | NPM1 p.W288Cfs*12 | Died |
| CBL c.1096-1G > T | ||||||
| 41 | F/78 | AML-TMDS | add(21q) | FLT3 ITD + TKD- | FLT3 ITD (30 bp) | Died |
| 42 | M/88 | AML-NOS* | Not done | Not done | IDH2 p.R140Q | Alive on palliative care |
| 43 | M/63 | M2 | Normal | Not done | IDH2 p.R172K | Alive on vidaza |
| 44 | F/60 | M2 and bone marrow fibrosis | Normal | 5/7/del(20q) FISH-, BCR-ABL-, FLT3-, JAK2 V617F/CALR/MPL- | DNMT3A c.855 + 1G > T | Alive on treatment |
| NPM1 p.W288Cfs*12 | ||||||
| IDH2 p.R140Q | ||||||
| 45 | F/28 | M4Eo | inv(16) | CBFB FISH+, CBFB-MYH11 PCR+ | Negative | Alive in CR |
| 46 | F/84 | M4Eo | Not done | CBFB-MYH11 PCR+, FLT3-, NPM1-, KIT- | Negative | Died |
| 47 | M/51 | Atypical CML | Normal | CSF3R-, BCR-ABL-, JAK2 V617F-, PDGFRB FISH-, PDGFRA FISH- | EZH2 c.1852-2A > G | Died |
| SETBP1 p.D868N | ||||||
| ASXL1 p.G646Wfs*12 | ||||||
| ZRSR2 p.Q103* | ||||||
| 48 | F/53 | M2 | t(8;21) | KIT- | SMC3 p.S674_R675insL | Alive in CR |
| 49 | M/65 | High-grade MDS | Normal | Not done | ASXL1 p.G646Wfs*12 | Alive on vidaza + eltrombopag trial |
| 50 | M/51 | M2 | Normal | NPM1-, FLT3-, AML1-ETO- | CEBPA p.R343Afs*79 | Alive on treatment |
| CEBPA p.K313dup |
CR complete remission, NR non-remission, FISH fluorescence in-situ hybridization, vidaza 5-azacytadine, HHT homoharringtonine, HD Hodgkin lymphoma, PML-RARA(s) short isoform of fusion transcript from PML bcr3 breakpoint, VAF variant allele frequency, FLT3 testing included detection of both ITD and TKD
*Diagnosis on PB only
aAparticulate aspirate and diagnosis by immunophenotyping only
bDiagnosis in another hospital