DNA Methylation Profiling in Non-M3 AML Patients

Twenty-eight non-M3 AML patients who were monitored at the Hematology Department of the Chinese People’s Liberation Army General Hospital between August 2014 and June 2016 were enrolled in this study and underwent DNA methylation sequencing, as described previously [13 (link)]. Three of these patients had the t(8;21) translocation. A methylation sequencing dataset comprising 33 bone marrow samples was generated, including 23 non-paired de novo samples, 2 paired t(8;21) de novo/complete remission (CR) samples, and 3 paired non-t(8;21) de novo/CR samples. All de novo AML samples were collected before treatment, while CR samples were obtained after the first round of treatment with the DCAG regimen, which involved decitabine (20 mg/m² on days 1–5), Ara-C (10 mg/m² every 12 h on days 1–5), aclarubicin (20 mg on days 1, 3, and 5), and granulocyte colony-stimulating factor (300 μg/d from d0 to neutrophil recovery). All patients were diagnosed and assessed according to the AML guidelines of the National Comprehensive Cancer Network (version 1.2017; http://www.nccn.org/). As described previously [13 (link)], specimen collection was conducted only after written informed consent was obtained from each participant. Patient characteristics are summarized in Tables 1 and 2.Table 1

Characteristics of the de novo patient study cohort (n = 28)

Characteristic	Value
Age at diagnosis, years	49.07 ± 17.94
Sex, no. (%)
Male	11 (39)
Female	17 (61)
Bone marrow blast, no. (%)	67.55 ± 23.74
AML FAB subtype, no. (%)
M1	1 (3.57)
M2	5 (17.86)
M4	10 (35.71)
M5	11 (39.29)
M6	1 (3.57)
2017 NCCN cytogenetic risk classification, no. (%)
Good	5 (17.86)
Intermediate	20 (71.43)
Poor	3 (10.71)
2017 NCCN molecular risk classification, no. (%)
Good	12 (42.86)
Intermediate	7 (25.00)
Poor	9 (32.14)
Mutation, no. (%)
t(8;21)	3 (10.71)
inv(16)	2 (7.14)
NPM1	4 (14.29)
FLT3	6 (21.43)
DNMT3A	3 (10.71)
IDH1 or IDH2	4 (14.29)
KRAS or NRAS	4 (14.29)
TP53	2 (7.14)
biCEBPA	7 (25.00)

Table 2

Characteristics of the de novo/CR paired samples (n = 5)

	Age (years)	Sex	Bone marrow blast at diagnosis %	Cytogenetics at diagnosis	Risk classification	Induction regimen
Pair 1	59	Female	45.2	Normal karyotype	Intermediate	DCAG
Pair 2	34	Female	67.2	46, XX, inv(16)	Good	DCAG
Pair 3	60	Female	56.4	46, XX, t(11;20)	Intermediate	DCAG
Pair 4	73	Female	81	46, XX, t(8;21)	Good	DCAG
Pair 5	50	Female	83.2	45, XX, − X, t(8;21)	Good	DCAG