Genetic changes in refractory relapsed acute myeloid leukemia with NPM1 mutation: A case report

Table 1 Gene testing before chemotherapy

Gene	Variation content
NPM1	Exon 12
ASXL1	Exon 12 c.3759T>C; p.S1253S
DNMT3A	Exon 2 c.27C>T; p.P9P
TET2	Exon 9 c.4140T>C; p.H1380H
	Exon 3 c.652G>A; p.V218M c.3117G>A; p.S1039S
FLT3-ITD	No gene mutation was detected

Table 2 Gene testing after the first recurrence

Gene	Variation content	Variation ratio
NPM1	Exon 11 NM_002520:c.863_864insCCAG (p.W288fs)	11.8% (1276X)
TET2	Exon 3 NM_001127208:c.1588C>T (p.Q530*)	6.6% (2572X)
PTPN11	Exon 3 NM_002834:c.218C>T (p.T73I)	16.2% (2056X)
ETV6	Exon 6 NM_001987:c.1048T>C (p.S350P)	6.9% (1822X)
JAK2	Exon 15 NM_004972:c.1975T>C (p.W659R)	40.2% (1044X)
WT1	Exon 7 NM_024426:c.1157dupC (p.A387fs)	14.0% (1826X)
	Exon 7 NM_024426:c.1180_1186delins8 p.R394fs)	10.1% (1926X)