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1.大连医科大学药学院,辽宁 大连;116000
2.南京医科大学第三附属医院(常州市第二人民医院)药学部,江苏 常州 213000
硕士研究生。研究方向:肿瘤临床药学。E-mail:2592411385@qq.com
副主任药师,硕士生导师。研究方向:抗肿瘤药物的临床药学。E-mail:duoduo_1133@163.com
收稿:2025-07-10,
修回:2025-12-29,
录用:2025-12-30,
纸质出版:2026-01-15
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崔宇,李梦露,徐姗.奥沙利铂所致周围神经毒性相关基因多态性研究进展 [J].中国药房,2026,37(01):130-136.
CUI Yu,LI Menglu,XU Shan.Advances in polymorphisms of genes associated with oxaliplatin-induced peripheral neurotoxicity[J].ZHONGGUO YAOFANG,2026,37(01):130-136.
崔宇,李梦露,徐姗.奥沙利铂所致周围神经毒性相关基因多态性研究进展 [J].中国药房,2026,37(01):130-136. DOI: 10.6039/j.issn.1001-0408.2026.01.23.
CUI Yu,LI Menglu,XU Shan.Advances in polymorphisms of genes associated with oxaliplatin-induced peripheral neurotoxicity[J].ZHONGGUO YAOFANG,2026,37(01):130-136. DOI: 10.6039/j.issn.1001-0408.2026.01.23.
周围神经毒性是奥沙利铂最严重的剂量限制性不良反应之一,而基因多态性在奥沙利铂所致周围神经毒性(OIPN)中发挥了重要作用。OIPN根据发病时间可分为急性和慢性OIPN,前者临床表现为感觉异常甚或运动障碍,后者临床表现为肢体感觉障碍且持续不退、手足麻木或疼痛。转运蛋白基因
OCT2
、
OCTN2
和
NHE1
可能与OIPN的发生有关;药物代谢酶基因
GSTP1
Ile105Val,
DPYD
rs1801265,电压门控钠通道(NaV)基因
SCN4A
rs2302237、
SCN9A
rs6746030、
SCN10A
rs12632942和其他相关基因如
HLA-G
rs1610696、rs371194629,
CCNH
rs2230641、rs3093816与严重OIPN的发生有关;而DNA修复相关基因
XRCC1
rs23885,NaV基因
SCN9A
rs3750904、rs12478318、rs6754031与OIPN风险降低有关。未来可以将OIPN的遗传学研究成果向临床转化,最终实现对患者个体化精准医疗。
Peripheral neurotoxicity represents one of the most severe dose-limiting adverse reactions associated with oxaliplatin, with genetic polymorphisms playing a significant role in oxaliplatin-induced peripheral neuropathy (OIPN). OIPN can be categorized as acute or chronic based on onset timing. The former presents clinically as sensory abnormalities or even motor disorders, whil
e the latter presents clinically as limb sensory disorders that persist, numbness or pain in the hands and feet. The transporter genes
OCT2
,
OCTN2
, and
NHE1
may be implicated in OIPN; drug-metabolizing enzyme gene
GSTP1
Ile105Val,
DPYD
rs1801265, voltage-gated sodium channel (NaV) gene
SCN4A
rs2302237,
SCN9A
rs6746030,
SCN10A
rs12632942, and other associated genes such as
HLA-G
rs1610696, rs371194629 and
CCNH
rs2230641, rs3093816 are associated with severe OIPN. Conversely, DNA repair-related gene
XRCC1
rs23885, NaV gene
SCN9A
rs3750904, rs12478318 and rs6754031 are associated with reduced OIPN risk. In the future, the genetic research findings on OIPN can be translated into clinical applications, ultimately achieving individualized precision medicine for patients.
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