Table 4. PB and BM findings at the time of t-MNs diagnosis.
| Parameters | Number | |||
|---|---|---|---|---|
| 1 | 2 | 3 | 4 | |
| PB | ||||
| WBC count (μL) | 3,560 | 7,100 | 18,320 | 6,020 |
| Hb (g/L) | 10.8 | 8.4 | 10.7 | 9.5 |
| Platelets (×109/L) | 78 | 35 | 78 | 98 |
| Blasts (%) | 1 | 0 | 18 | 25 |
| BM | ||||
| BM blast (%) | 9 | 18 | 20 | 20 |
| Ring sideroblasts (%) | >15 | 0 | 0 | 0 |
| Chromosome study | 45,XX,add(3)(p13),del(4)(q23),der(5)del(5)(q15q33)t(5;17)(q35;q21),-7,add(13)(q12),add(14)(q24),der(17)t(5;17),add(19)(p13.3)[cp15]/46,XX[5] | 45,XX,der(5;17)(p10;q10),add(7)(q11.2)[cp4]/46,XX[8] | 46,XX,del(5)(q22q35),-7,+8,der(18;21)(q10;q10),+21[20] | 42~44,XX,t(1;2)(p13;p23),-3,-5,add(7)(q32),-10,-12,-16,-17,+2~5mar[cp18]/46,XX[2] |
| FISH | 5q deletion: positive (26.5%) | Negative finding | Not done | Not done |
| Monosomy 7: positive (25.0%) | ||||
| NGS | Tier 1 variant detected (TP53 p.Val173Glu, VAF 14%; TP53 p.Arg156Gly, VAF 15%; PTPN11 p.Phe71Leu, VAF 3%) | Tier 1 variant detected (PPM1D p.Pro518Leufs*4, VAF 5%; PPM1D p.Arg552*, VAF 7%; TP53 p.Ala161Asp, VAF 3%). Tier 3 variant detected (GATA2 p.Ala411Val, VAF 51%; NOTCH1 p.Arg2263Gln, VAF 48%) | Tier 1 variant detected (RUNX1 c.496_508+2dup, VAF 37%; TP53 p.Gln144*, VAF 81%). Tier 3 variant detected (NRAS p.Gly12Thr, VAF 10%; PTPN11 p.Gly503Glu, VAF 36%) | Tier1 variants detected (TP53 p.Arg213Ter, VAF 45.2%; DNMT3A p.Tyr623Ter, VAF 23.6%) |
| Pathologic diagnosis | MDS with increased blasts-1 | AML with mutated TP53 post-cytotoxic therapy | AML with mutated TP53 post-cytotoxic therapy | AML with mutated TP53 post-cytotoxic therapy |
PB, peripheral blood; BM, bone marrow; t-MNs, therapy-related myeloid neoplasms; WBC, white blood cell; Hb, hemoglobin; FISH, fluorescence in situ hybridization; NGS, next-generation sequencing; VAF, variant allele frequency; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia.