Table 1.

Patient characteristics and outcome

Patient	Karyotype	Mutations, fusions	ELN category	SAMHD1 IHC	CR cycle 1/2	MRD after cycle 2, flow cytometry/RT‐qPCR/deep sequencing	Allo‐HSCT	Time to relapse (months)	Overall survival (months)
1101 Female 26 years	47,XX,t(8;19)(p21;p10),+der(8)t(8;19) [14] /46,idem,‐7 [3] /48,idem,+21 [2] /46,XX [1]	RUNX1	Adverse	25%–75%	Yes/Yes	0.02%/NA/RUNX1 8.9%	Yes	NA	20.5+
1102 Female 27 years	46,XX [20]	NRAS, U2AF1	Intermediate	<25%	Yes/Yes	0.07%/NA/U2AF1 0.4%, NRAS <0.02%	Yes	NA	20.1+
1103 Male 26 years	46,XY [20]	FLT3‐TKD, RUNX1, IKZF1	Adverse	25%–75%	Yes/Yes	0.09%/NA/RUNX1 0.74%, FLT3‐TKD 0.049%	Yes	NA	19.2+
1104 Female 26 years	46,XX,t(6;9)(p22;q34) [17] /46,XX [3]	DEK::NUP214	Adverse	<25%	Yes/Yes	NA/<0.01%/NA	Yes	NA	18.6+
1105 Female 48 years	46,XX [20]	NPM1, FLT3‐TKD, IDH2, DNMT3A	Favourable	>75%	Yes/Yes	NA/<0.001%/NA	No	NA	18.0+
1106 Male 76 years	46,XY [20]	RUNX1, BCORL1, BCOR, FLT3‐TKD	Adverse	25%–75%	No a /Yes	0.004%/NA/RUNX1 10.5%, FLT3‐TKD 0.004%	No	11.9	16.8+
1107 Male 52 years	46,XY [20]	NPM1, FLT3‐ITD low ratio, IDH2	Favourable	<25%	Yes/Yes	NA/0.0017/NA	No	NA b	16.7+
1108 Female 61 years	45,X,‐X [10]/46,XX [10]	RUNX1, SF3B1, CBL	Adverse	<25%	Yes/Yes	NA c /NA/RUNX1 0.79%, CBL 0.77%	Yes	NA	16.0+
1109 Female 61 years	46,XX t(5;6)(q31;q25) [6] /46,XX [16]	NPM1, FLT3‐ITD low ratio, TET2	Favourable d	<25%	Yes/Yes	NA/0.017%/NA	Yes	NA	14.9+

Abbreviations: Allo‐HSCT, allogeneic haematopoietic stem cell transplantation; BCOR, BCL6 Corepressor; BCORL1, BCL6 Corepressor Like 1; CBL, Cbl Proto‐Oncogene; CR, complete remission; DEK::NUP214, fusion of DEK Proto‐Oncogene and Nucleoporin 214; DNMT3A, DNA Methyltransferase 3α; ELN, European LeukemiaNet; FLT3‐ITD, Fms Related Receptor Tyrosine Kinase 3 internal tandem duplication; FLT3‐TKD, Fms Related Receptor Tyrosine Kinase 3 tyrosine kinase domain; IDH2, Isocitrate Dehydrogenase 2; IHC, immunohistochemistry; IKZF1, IKAROS Family Zinc Finger 1; MRD, measurable residual disease; NA, not available; NPM1, Nucleophosmin 1; NRAS, Neuroblastoma RAS viral oncogene homolog; RUNX1, Runt‐related transcription factor 1; SF3B1, Splicing Factor 3b Subunit 1; TET2, Tet Methylcytosine Dioxygenase 2; U2AF1, U2 Small Nuclear RNA Auxiliary Factor 1.

^a Blasts 5.5%; Granulocyte colony‐stimulating factor use prior to sampling may have increased the morphologic blast count.

^b At 9 months, MRD NPM1 switched from negative to positive at 0.00024%, when double‐checked then negative. Prior to receiving the confirmatory MRD result, the patient was put on AZA‐VEN and received three cycles.

^c Patient 1108 lacked a leukaemia‐specific phenotype for flow cytometry.

^d This patient had a prior history of myeloproliferative neoplasia with osteosclerosis and extramedullary haematopoiesis, and therefore better resembled a higher‐risk secondary AML.