Table 3.
Mutation status during the disease course in UPN8.
| Mutation | VAF (%) | karyotype | ||||
|---|---|---|---|---|---|---|
| MPN | sAML | CR | Rel | CR | Rel | |
| JAK2 V617F | 40.5 | 2.7 | 39.8 | 7.5 | 46,XX[20] | complex* |
| TP53R248W | 4.7 | 87.5 | 8.4 | 63.1 | ||
| TP53V173L | 4.4 | 3.5 | 8.4 | 7.1 | ||
| SMARCC2D381E | 50.7 | 47.9 | 47.0 | 43.7 | ||
| UBR4R450H | 47.7 | 48.5 | 43.4 | 43.2 | ||
| ZNF143S286R | 47.9 | 60.6 | 43.2 | 29.6 | ||
VAF variant allele frequency, CR complete response, Rel relapse.
*43, XX, del(5)(q?), add(11)r(11;?)(p15q23;?), add(12)(p11.2), del(13)(q13q14), del(14)(q22q24), -17, -18, add(21)(q22), -22[11] /43, idem, + add(11)(q23), -der(11)r(11;?), -15, + mar[1] /40 ~ 43, XX, del(5), der(11)add(11)(p15)add(11)(q23), add(12), del(13), del(14), -17, -18, add(21), -22[cp6] /46, XX[1].