Combined determination of Septin9 gene methylation and SDC2 gene methylation in auxiliary diagnosis of colorectal cancer

doi:10.3969/j.issn.1673-8640.2025.06.001

Abstract

Abstract:

Objective To investigate the clinical application value of combined determination of plasma Septin9 gene methylation and fecal SDC2 gene methylation in the diagnosis of colorectal cancer（CRC）. Methods A total of 110 CRC patients from Fudan University Shanghai Cancer Center from November 2023 to January 2024 were enrolled as CRC group，which included 48 patients in the early stage（TNM stage Ⅰ-Ⅱ）（early CRC group），62 patients in the advanced stage（TNM stage Ⅲ-Ⅳ）（advanced CRC group）. Totally，21 patients with benign colorectal tumors（disease control group） and 37 healthy subjects（healthy control group） were enrolled as well. The levels of serum carcinoembryonic antigen（CEA） and carbohydrate antigen（CA19-9），as well as the methylation levels of fecal SDC2 gene and plasma Septin9 gene were determined. The consistency of plasma Septin9 gene methylation and fecal SDC2 gene methylation determination results was evaluated. The efficacy of combined determination of various indicators in the diagnosis of CRC was evaluated by receiver operating characteristic（ROC） curve. Results Compared with healthy control group，the positive rates of SDC2 gene methylation in both disease control group and CRC group were increased（P<0.01）. The positive rate of Septin9 gene methylation in CRC group was increased（P<0.001）. The positive rates of SDC2 gene methylation and Septin9 gene methylation in both early CRC group and advanced CRC group were increased（P<0.001）. There was no statistical significance in the positive rate of Septin9 gene methylation between disease control group and healthy control group（P>0.05）. Except for healthy control group（Kappa=0.358，P=0.026），there was no consistency in the methylation of SDC2 gene and Septin9 gene in the other groups（P>0.05）. The area under curve（AUC） of the combined determination of SDC2 gene+Septin9 gene+CA19-9 in diagnosing CRC was 0.958，the optimal cut-off value was 0.571，the sensitivity was 95.5%，and the specificity was 90.3%. The AUC for diagnosing early CRC was 0.940，the optimal cut-off value was 0.700，the sensitivity was 91.7%，and the specificity was 90.3%. Conclusions The combined determination of Septin9 gene methylation，SDC2 gene methylation and the traditional tumor marker CA19-9 is helpful to improve the diagnostic efficacy of CRC.

Key words: Septin9 gene, SDC2 gene, Methylation, Colorectal cancer

CLC Number:

R446.7

HUANG Ren, SHI Weizhong, LU Renquan, GUO Lin, WANG Yanchun. Combined determination of Septin9 gene methylation and SDC2 gene methylation in auxiliary diagnosis of colorectal cancer[J]. Laboratory Medicine, 2025, 40(6): 519-524.

Figures/Tables 5

References 24

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组别	例数	CEA/（ng·mL^-1）	CA19-9/（U·mL^-1）
正常对照组	37	1.72（0.67，2.24）	5.74（2.69，6.50）
疾病对照组	21	2.48（1.13，2.28）	9.37（3.37，14.65）
CRC组	110	3.31（1.72，9.10）^**#	11.10（6.28，21.70）^*
早期CRC组	48	2.36（1.35，4.42）	9.51（5.37，16.45）^*
晚期CRC组	62	4.96（2.36，22.7）^**##	12.35（7.35，31.28）^*

组别	例数	CEA/（ng·mL^-1）	CA19-9/（U·mL^-1）
正常对照组	37	1.72（0.67，2.24）	5.74（2.69，6.50）
疾病对照组	21	2.48（1.13，2.28）	9.37（3.37，14.65）
CRC组	110	3.31（1.72，9.10）^**#	11.10（6.28，21.70）^*
早期CRC组	48	2.36（1.35，4.42）	9.51（5.37，16.45）^*
晚期CRC组	62	4.96（2.36，22.7）^**##	12.35（7.35，31.28）^*

组别	例数	SDC2基因甲基化/[%（例）]	Septin9基因甲基化/[%（例）]
正常对照组	37	8.1（3）	5.4（2）
疾病对照组	21	42.9（9）^*	9.5（2）
CRC组	110	88.2（97）^**	42.7（47）^**
早期CRC组	48	89.6（43）^**	31.3（15）^*
晚期CRC组	62	87.1（54）^**	51.6（32）^**

组别	例数	SDC2基因甲基化/[%（例）]	Septin9基因甲基化/[%（例）]
正常对照组	37	8.1（3）	5.4（2）
疾病对照组	21	42.9（9）^*	9.5（2）
CRC组	110	88.2（97）^**	42.7（47）^**
早期CRC组	48	89.6（43）^**	31.3（15）^*
晚期CRC组	62	87.1（54）^**	51.6（32）^**

SDC2基因甲基化	Septin9基因甲基化		合计/例	一致性检验
SDC2基因甲基化	阴性/例	阳性/例	合计/例	Kappa值	P值
正常对照组				0.358	0.026
阴性	33	1	34
阳性	2	1	3
合计	35	2	37
疾病对照组				0.246	0.086
阴性	12	0	12
阳性	7	2	9
合计	19	2	21
CRC组				-0.080	0.144
阴性	5	8	13
阳性	58	39	97
合计	63	47	110
早期CRC组				-0.028	0.656
阴性	3	2	5
阳性	30	13	43
合计	33	15	48
晚期CRC组				-0.124	0.156
阴性	2	6	8
阳性	28	26	54
合计	30	32	62