Patient characteristics
| ID . | Age, y/sex . | Cytogenetics Dx/Rem . | 2017 ELN . | SCS genotype Dx . | SCS genotype Rem . | SCS genotype Rel . | Resp status . | Disease detected . | Treatment (Ind/Cons/HCT) . |
|---|---|---|---|---|---|---|---|---|---|
| SU067 | 54/Female | NK | Fav | PTPN11_A72T* NPM1L287inc(TCTG)* | WT1_ins(GCACA)† NPM1L287inc(TCTG)† | WT1_ins(GCACA)* NPM1L287inc(TCTG)* | Relapse | Yes | IC/MEC/No |
| SU291 | 35/Female | Trisomy 8/NK | Int | NPM1L287inc(TCTG)* IDH2_R140W* | IDH1_R132H* NPM1L287inc(TCTG)* FLT3_D835Y* | Relapse | No | DC/HIDAC/No | |
| SU320 | 70/Male | NK | Int | IDH2_R140Q* KRAS_G12V* NPM1L287inc(TCTG)* FLT3_I836del(GAT)* FLT3_D835Y† | IDH2_R140Q | IDH2_R140Q* KRAS_G12V* NPM1L287inc(TCTG)* | Relapse | No | DC/IDAC/No |
| SU353 | 66/Male | NK | Adv | FLT3-ITD* NPM1L287inc(TCTG)* ASXL1-Q377‡ | FLT3-ITD NPM1L287inc(TCTG) | FLT3-ITD* NPM1L287inc(TCTG)* | Relapse | Yes | DC/No/No |
| SU359 | 22/Female | NK | Int | WT1_R375ins* NRAS_G12S* KRAS_G12D* FLT3-itd* | WT1_R375ins NRAS_G12S | Relapse | Unknown | IC/HIDAC/No | |
| SU372 | 54/Female | NK | Int | DNMT3A_R882H* IDH1_R132H* NPM1L287inc(TCTG)* PTPN11_P491L* | DNMT3AR882H IDH1_R132H NPM1L287inc(TCTG) PTPN11_P491L | DMNT3A_R882H* IDH1_R132H* NPM1L287inc(TCTG)* PTPN11_P491L* | Relapse | Yes | IC/HIDAC/No |
| SU442 | 61/Male | NK | Int | FLT3-ITD* NPM1L287inc(TCTG)* | FLT3-ITD* NPM1L287inc(TCTG)* | Relapse | No | DC/IC | |
| SU484 | 71/Male | NK | Adv | IDH2_R140Q* FLT3_V592D* NPM1L287inc(TCTG)* ASXL1-G996R‡ | IDH2_R140Q | IDH2_R140Q* NPM1L287inc(TCTG)* | Relapse | No | DC/No/No |
| SU654 | 47/Male | NK | Fav | DNMT3A_R882C* IDH1_R132C* NPM1L287inc(TCTG)* NRAS_G13D* | DNMT3A_R882C IDH1_R132C | DNMT3A_R882C IDH1_R132C NPM1L287inc(TCTG) NRAS_G13D | Relapse | Yes | DC/HIDAC |
| SU674 | 51/Female | NK | Int | DNMT3A_R882C FLT3-ITD NPM1L287inc(TCTG) | DNMT3A_R882C | DNMT3A_R882C FLT3-ITD NPM1L287inc(TCTG) | Relapse | No | IC/IC/Yes |
| SU218 | 40/Female | NK | Fav | NPM1L287inc(TCTG)* | NPM1L287inc(TCTG) | Remission (2695) | DA/HIDAC/No | ||
| SU290 | 64/Female | NK | Int | GATA2_A318T* NRAS_G12D* FLT3-ITD(8286)* FLT3-ITD(8315)* NRAS_G13D† NRAS_Q61R† KIT_D816H* NRAS_G12C† NRAS_Q61H† KIT_N822K* | GATA2_A318T† | Remission (2697) | GCLAC/GCLAC/Yes | ||
| SU564 | 58/Male | 45X, t(8;21)(q22;q22)/NK | Fav | KIT_N822K* | KIT_N822k | Remission (2061) | DC/HIDAC/No | ||
| SU380 | 23/Male | inv(16) | Adv | KIT_T417P* NRAS_Q61R* NRAS_G13D* ASXL1S577‡ | Remission (2061) | IC/HIDAC/No |
| ID . | Age, y/sex . | Cytogenetics Dx/Rem . | 2017 ELN . | SCS genotype Dx . | SCS genotype Rem . | SCS genotype Rel . | Resp status . | Disease detected . | Treatment (Ind/Cons/HCT) . |
|---|---|---|---|---|---|---|---|---|---|
| SU067 | 54/Female | NK | Fav | PTPN11_A72T* NPM1L287inc(TCTG)* | WT1_ins(GCACA)† NPM1L287inc(TCTG)† | WT1_ins(GCACA)* NPM1L287inc(TCTG)* | Relapse | Yes | IC/MEC/No |
| SU291 | 35/Female | Trisomy 8/NK | Int | NPM1L287inc(TCTG)* IDH2_R140W* | IDH1_R132H* NPM1L287inc(TCTG)* FLT3_D835Y* | Relapse | No | DC/HIDAC/No | |
| SU320 | 70/Male | NK | Int | IDH2_R140Q* KRAS_G12V* NPM1L287inc(TCTG)* FLT3_I836del(GAT)* FLT3_D835Y† | IDH2_R140Q | IDH2_R140Q* KRAS_G12V* NPM1L287inc(TCTG)* | Relapse | No | DC/IDAC/No |
| SU353 | 66/Male | NK | Adv | FLT3-ITD* NPM1L287inc(TCTG)* ASXL1-Q377‡ | FLT3-ITD NPM1L287inc(TCTG) | FLT3-ITD* NPM1L287inc(TCTG)* | Relapse | Yes | DC/No/No |
| SU359 | 22/Female | NK | Int | WT1_R375ins* NRAS_G12S* KRAS_G12D* FLT3-itd* | WT1_R375ins NRAS_G12S | Relapse | Unknown | IC/HIDAC/No | |
| SU372 | 54/Female | NK | Int | DNMT3A_R882H* IDH1_R132H* NPM1L287inc(TCTG)* PTPN11_P491L* | DNMT3AR882H IDH1_R132H NPM1L287inc(TCTG) PTPN11_P491L | DMNT3A_R882H* IDH1_R132H* NPM1L287inc(TCTG)* PTPN11_P491L* | Relapse | Yes | IC/HIDAC/No |
| SU442 | 61/Male | NK | Int | FLT3-ITD* NPM1L287inc(TCTG)* | FLT3-ITD* NPM1L287inc(TCTG)* | Relapse | No | DC/IC | |
| SU484 | 71/Male | NK | Adv | IDH2_R140Q* FLT3_V592D* NPM1L287inc(TCTG)* ASXL1-G996R‡ | IDH2_R140Q | IDH2_R140Q* NPM1L287inc(TCTG)* | Relapse | No | DC/No/No |
| SU654 | 47/Male | NK | Fav | DNMT3A_R882C* IDH1_R132C* NPM1L287inc(TCTG)* NRAS_G13D* | DNMT3A_R882C IDH1_R132C | DNMT3A_R882C IDH1_R132C NPM1L287inc(TCTG) NRAS_G13D | Relapse | Yes | DC/HIDAC |
| SU674 | 51/Female | NK | Int | DNMT3A_R882C FLT3-ITD NPM1L287inc(TCTG) | DNMT3A_R882C | DNMT3A_R882C FLT3-ITD NPM1L287inc(TCTG) | Relapse | No | IC/IC/Yes |
| SU218 | 40/Female | NK | Fav | NPM1L287inc(TCTG)* | NPM1L287inc(TCTG) | Remission (2695) | DA/HIDAC/No | ||
| SU290 | 64/Female | NK | Int | GATA2_A318T* NRAS_G12D* FLT3-ITD(8286)* FLT3-ITD(8315)* NRAS_G13D† NRAS_Q61R† KIT_D816H* NRAS_G12C† NRAS_Q61H† KIT_N822K* | GATA2_A318T† | Remission (2697) | GCLAC/GCLAC/Yes | ||
| SU564 | 58/Male | 45X, t(8;21)(q22;q22)/NK | Fav | KIT_N822K* | KIT_N822k | Remission (2061) | DC/HIDAC/No | ||
| SU380 | 23/Male | inv(16) | Adv | KIT_T417P* NRAS_Q61R* NRAS_G13D* ASXL1S577‡ | Remission (2061) | IC/HIDAC/No |
Unmarked variants are from samples without an NGS comparison. “Disease detected” indicates that the dominant clone at relapse was identified at remission.
Adv, advanced; C, cytarabine; Cons, consolidation; D, daunorubicin; Dx, diagnosis; E, etoposide; Fav, favorable; GCLAC, clofarabine, cytarabine, and filgrastim; HCT, hematopoietic cell transplantation; HIDAC, high-dose cytarabine; I, idarubicin; IDAC, intermediate-dose cytarabine; Ind, induction; Int, intermediate; M, mitoxantrone; NK, normal karyotype; Rel, relapse; Rem, remission; Resp, response.
Variants detected by both SCS and NGS.
Variants detected by SCS only.
Variants detected by NGS only.