. 2021 Oct 28;21:1153. doi: 10.1186/s12885-021-08839-9

Table 3.

Summary of mutation analyses of sorted blast populations

Clinical details			Molecular Genetics					Leukemia-associated immunophenotype (LAIP)
BB^a	Response	Karyotype	Gene	Mutation	Amino acid change	Variant allele frequency		LAIP details	Pre-C %	Post-C %
BB^a	Response	Karyotype	Gene	Mutation	Amino acid change	Pre-C %	Post-C %	LAIP details	Pre-C %	Post-C %
64	Borderline refractory with persistent inv.(3)	Inv(3)	KRAS GATA2 PTEN NOTCH1	Missense Missense Missense Missense	G13D L321V G251D D2108N	49 40 0 0	26 27 12 22	CD34^hi/CD13⁺	10.4	24.4
121	Refractory	Inv(3)	PTPN11	Missense	G503A	45	50	CD34⁺/CD33^+/−/HLADR^wk/−CD34^hi/CD13⁺	57.1 20.6	21.7 50.4
205	Refractory	Monosomal	PTPN11 DNMT3A	Missense Missense	E76Q A192G	24 16	Failed	CD34^hi/CD33⁺ CD34⁺/CD33⁺/HLADR^wk	70.9 25.0	5.12 30.9
285	Refractory	Normal	FLT3 TET2 KIT U2AF1 EZH2 TET2 TP53 WT1	Missense Stop-gain Missense Missense Frameshift Missense Missense Missense	D835E R1452X P623L S34F N/A D1242G E307G R401K	47 41 11 0 0 0 0 0	31 35 0 26 41 20 16 12	CD34⁺/CD33^+/−/CD7⁺	57.2	90.3
349	Refractory	Normal	IDH2 TET2	Missense Stop-gain	R172K Q1539X	60 0	57 12	CD117^hi	9.11	5.98
494	Refractory	Monosomal	TP53 JAK2 FBXW7	Missense Missense Missense	R234H N533D E471K	94 12 11	99 0 0	CD117⁺/CD45^hi CD117⁺/CD33⁺/CD7⁺	32.2 34.4	34.2 34.2

^aBiobank identifier

Summary of Trusight Myeloid Sequencing Panel targeted next generation sequencing (NextSeq 500 System, Illumina) of sorted blast populations (see Table S2 for complete data). Also shown is the frequency of the indicated leukemia associated immunophenotype (LAIP) for each sample. C, chemotherapy