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Table. 1.

Table. 1.

Summary of the 32 patients in this study

No. Sex/Age Subtype* Tier 1 variant Tier 2 variant Tier 3 variant Karyotype Conventional genetic test results
1 F/77 AMMoL CEBPA p.E148fs Not detected Not detected Normal NPM1-, FLT3-, CEBPA+
2 M/59 AMMoL FLT3 ITD (33 bp)RUNX1 p.D198G DNMT3A p.D531fs GATA2 p.G320STET2 p.S69R Normal NPM1-, FLT3+, CEBPA-
3 F/83 AMMoL NPM1 p.W289fs DNMT3A p.R882CTET2 p.Q916* TET2 p.C1273F Normal NPM1+, FLT3-, CEBPA-
4 M/73 AMMoL FLT3 ITD (24 bp) RUNX1 p.R107GRUNX1 p.G87fs ZRSR2 p.E118fs Not detected Normal Not tested
5 F/57 AML with biallelic mutation in CEBPA CEBPA p.P23fsCEBPA p.L315_E316insT NRAS p.Q61HNRAS p.G13DWT1 p.R462W CSF3R p.T648I +21 NPM1-, FLT3-, CEBPA+
6 F/66 AML with maturation IDH2 p.R140Q DNMT3A p.R882C MPL p.*636Wext*13 add(22p) NPM1-, FLT3-, CEBPA-
7 F/75 AML with maturation ASXL1 p.Q588* TET2 p.E1411fsWT1 p.A382fs PHF6 p.E152* Normal NPM1-, FLT3-, CEBPA-
8 F/65 AML with maturation IDH2 p.R172KASXL1 p.E635fs TET2 p.S1758* Not detected Normal Not tested
9 M/73 AML with maturation DNMT3A p.R882H KRAS p.G12D Not detected -7, add(8q) NPM1-, FLT3-, CEBPA-
10 F/37 AML with minimal differentiation CEBPA p.K298NIDH2 p.R172K Not detected PHF6 p.L324P t(1;2) NPM1-, FLT3-, CEBPA+
11 F/68 AML-MRC Not detected NRAS p.G12D GATA2 p.L359V del(5q) NPM1-, FLT3-, CEBPA-
12 M/79 AML-MRC IDH2 p.R140QRUNX1 p.I342fsRUNX1 p.S322* DNMT3A p.F827fsSF3B1 p.K700E Not detected Normal NPM1-, FLT3-, CEBPA-
13 F/51 AML-MRC Not detected TET2 p.F868L WT1 p.H465R Normal Not tested
14 F/79 AML with mutated NPM1 IDH2 p.R140QNPM1 p.W288fs Not detected Not detected Normal NPM1+, FLT3-, CEBPA-
15 F/84 AML with mutated NPM1 NPM1 p.W288fs NRAS p.G13DDNMT3A p.R659P TET2 p.L1899H Normal Not tested
16 M/77 AML with RUNX1-RUNX1T1 FLT3 ITD (39 bp) Not detected GATA2 p.A372T -Y, t(8;21) Not tested
17 F/54 AML with RUNX1-RUNX1T1 Not detected NRAS p.G13D Not detected t(8;21) Not tested
18 F/77 AML without maturation RUNX1 p.A149E BCOR p.K1972fsDNMT3A p.R882HDNMT3A p.W860RSRSF2 p.P95L Not detected Normal Not tested
19 M/66 AML without maturation ASXL1 p.E705* NF1 p.S2597fs TP53 p.E271K add(7q), add(17p) NPM1-, FLT3-, CEBPA-
20 F/66 Pure erythroid leukemia Not detected DNMT3A p.R729WTET2 p.D1587fs Not detected Complex > 3 abnormality NPM1-, FLT3-, CEBPA-
21 F/47 MDS with isolated del(5q) ASXL1 p.D1000G Not detected Not detected del(5q) Not tested
22 M/62 MDS-EB1 ASXL1 p.A640fsKIT p.D816VRUNX1 p.Q185fs Not detected CEBPA p.Q83fs Normal Not tested
23 F/58 MDS-EB1 RUNX1 p.S293fsRUNX1 p.P263fs U2AF1 p.Y158_E159dup Not detected +1, der(1;7)(q10;p10) Not tested
24 M/60 MDS-EB1 U2AF1 p.Q157P Not detected PRPF8 p.I1571M Normal Not tested
25 F/70 MDS-EB1 Not detected TET2 p.F868L Not detected Normal Not tested
26 F/70 MDS-EB2 RUNX1 p.R107C IDH1 p.R132C DNMT3A p.R882H Normal Not tested
27 M/77 MDS-EB2 TP53 p.R273H Not detected Not detected Complex > 3 abnormality Not tested
28 F/74 MDS-MLD ASXL1 p.Y591*CBL p.P417SU2AF1 p.Q157P Not detected Not detected Normal Not tested
29 M/76 MDS-MLD U2AF1 p.Q157H TET2 p.Q831* TET2 p.K944del Normal Not tested
30 F/60 MDS-MLD Not detected Not detected BCOR p.E630K Normal Not tested
31 F/50 MDS-SLD Not detected Not detected Not detected Normal Not tested
32 M/58 MDS-SLD Not detected Not detected Not detected Complex > 3 abnormality Not tested

*Subtypes at diagnosis were established according to the 2016 World Health Organization classification [8]. Variants were classified according to the Association of Molecular Pathology guidelines [16].

Abbreviations: AMMoL, acute myelomonocytic leukemia; AML-MRC, AML with myelodysplasia related change; MDS-EB, MDS with excess blasts; MDS-MLD, MDS with multilineage dysplasia; MDS-SLD, MDS with single lineage dysplasia.

Lab Med Online 2021;11:40~46
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