Costa Ericka Francislaine Dias, Ferreira Ana Maria Castro, Mazzali Marilda, Lourenço Gustavo Jacob, Lima Carmen Silvia Passos
Laboratory of Cancer Genetics, School of Medical Sciences, University of Campinas, São Paulo, Brazil.
Department of Internal Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil.
Head Neck. 2025 Oct;47(10):2683-2692. doi: 10.1002/hed.28179. Epub 2025 May 8.
This study investigated the roles of single nucleotide variants (SNVs) in genes of CDDP metabolism and their association with kidney dysfunction in patients with head and neck squamous cell carcinoma (HNSCC).
A total of 109 patients with locally advanced HNSCC, treated with CDDP, had renal function evaluated by serum creatinine level and CKD-EPI formula, and underwent genotyping by polymerase chain reaction.
Patients with GSTT1 present and ERCC1 c.354CT or TT genotypes showed 4.94% and 8.94% renal function reduction, respectively. GSTT1 present with TP53 c.215G>C (17.67%), GSTP1 c.313A>G with ERCC1 c.354C>T (17.57%), GSTP1 c.313A>G with MLH1 c.93G>A (12.49%), GSTP1 c.313A>G with MSH3 c.3133A>G (12.19%), ERCC1 c.354C>T with MLH1 c.93G>A (18.85%) and ERCC1 c.354C>T with MSH3 c.3133A>G (13.38%) combined genotypes were also associated with substantial declines in renal function.
Our data suggest that isolated and combined SNVs in genes enrolled in CDDP metabolism can be used to select patients for treatments that spare the kidneys from adverse effects.
本研究调查了单核苷酸变异（SNV）在顺铂（CDDP）代谢基因中的作用及其与头颈部鳞状细胞癌（HNSCC）患者肾功能不全的相关性。
共有109例接受CDDP治疗的局部晚期HNSCC患者，通过血清肌酐水平和CKD-EPI公式评估肾功能，并通过聚合酶链反应进行基因分型。
存在GSTT1且ERCC1 c.354C>T或TT基因型的患者肾功能分别降低4.94%和8.94%。存在GSTT1且伴有TP53 c.215G>C（17.67%）、GSTP1 c.313A>G且伴有ERCC1 c.354C>T（17.57%）、GSTP1 c.313A>G且伴有MLH1 c.93G>A（12.49%）、GSTP1 c.313A>G且伴有MSH3 c.3133A>G（12.19%）、ERCC1 c.354C>T且伴有MLH1 c.93G>A（18.85%）以及ERCC1 c.354C>T且伴有MSH3 c.3133A>G（13.38%）的组合基因型也与肾功能的显著下降相关。
我们的数据表明，参与CDDP代谢的基因中的孤立和组合SNV可用于选择能使肾脏免受不良反应影响的治疗患者。
