Table 1. Clinical and Cytogenetical... | American Society of Hematology

Table 1.

Clinical and Cytogenetical Features of the Patients With AML1 Mutations

Patient No.	Age/ Sex	Diagnosis (FAB)	Karyotype	Mutant/ WT^*	First Allele (nucleotide sequence change)	Second Allele
1	65/M	AML M0	Complex^†	8	R177ter (CGA → TGA)	R177ter
2	69/M	AML M0	46,XY,20q-[20]	3 + 5^‡/1	S114ter (TCG → TAG)	C72ins^‡
3	60/F	AML M0	46,XX,20q-[20]	6/3	H58N (CAC → AAC)	WT
4	40/M	AML M3 relapse	NA	3/6	K83N (AAG → AAC)	WT
5	75/F	AML M5a	NA	4/8	R177Q (CGA → CAA)	WT
6	61/M	CML BP	NA	4/2	R80C (CGC → TGC)	WT
7	30/M	AML M4	46,XY[20]	5/4	I87syn (ATC → ATA)	WT
8	67/M	ALL L2	46,XY[20]	4/2	I87syn (ATC → ATA)	WT

Patient No.	Age/ Sex	Diagnosis (FAB)	Karyotype	Mutant/ WT^*	First Allele (nucleotide sequence change)	Second Allele
1	65/M	AML M0	Complex^†	8	R177ter (CGA → TGA)	R177ter
2	69/M	AML M0	46,XY,20q-[20]	3 + 5^‡/1	S114ter (TCG → TAG)	C72ins^‡
3	60/F	AML M0	46,XX,20q-[20]	6/3	H58N (CAC → AAC)	WT
4	40/M	AML M3 relapse	NA	3/6	K83N (AAG → AAC)	WT
5	75/F	AML M5a	NA	4/8	R177Q (CGA → CAA)	WT
6	61/M	CML BP	NA	4/2	R80C (CGC → TGC)	WT
7	30/M	AML M4	46,XY[20]	5/4	I87syn (ATC → ATA)	WT
8	67/M	ALL L2	46,XY[20]	4/2	I87syn (ATC → ATA)	WT

Abbreviations: WT, wild-type; NA, not available; CML BP, chronic myeloid leukemia blastic phase.

Ratio of the mutant and wild-type clones in sequencing.

47,XY,+19[10] 48,XY,+8,+9[4] 48,XY,+13,+19[4].

AGAC insertion after Cys72 resulting in a frame shift and a termination at codon 111.