Page 59 - 南京医科大学学报自然科学版

第44卷第2期 南京医科大学学报（自然科学版）
2024年2月 Journal of Nanjing Medical University（Natural Sciences） ·197 ·

·临床研究·

儿童急性淋巴细胞白血病的代谢组学及外显子组学研究

王 翔，徐煜皓，孙 宇，陆 超 *
南京医科大学第一附属医院儿科，江苏 南京 210029

［摘 要］ 目的：探究儿童儿童急性淋巴细胞白血病（acute lymphoblastic leukemia，ALL）的基因改变及代谢产物的变化。方
法：选取2021年9月—2022年5月首次在南京医科大学第一附属医院儿科就诊的初发且未经治疗的儿童ALL患儿4例为实验
组，选取同期在本院进行体检的正常儿童4例为对照组。留取临床资料，收集血清样本，利用液相色谱⁃质谱技术分析其血清
代谢物水平，利用外显子测序技术分析基因变化。结果：代谢组学揭示了61种代谢物有差异变化，ALL中37种表达上升，表达
量上升最显著的差异代谢物是对甲酚和脱氧胆酸等，24种表达下降，表达量下降最显著的差异代谢物是1⁃吡咯啉⁃5⁃羧酸和5⁃
羟色胺等，外显子组学揭示了蛋白互作数量排名前10的基因有MUC17等。结论：ALL患儿与对照组血清的代谢物存在明显差
异，涉及多种代谢通路改变，鉴定出的差异代谢物对ALL的诊断和治疗具有重要意义，外显子测序提示MUC17等基因可能对
ALL的发生产生一定作用，可为研究ALL及临床用药提供新的思路和方法。
［关键词］ 急性淋巴细胞白血病；代谢组学；差异代谢物；外显子组学
［中图分类号］ R725.5 ［文献标志码］ A ［文章编号］ 1007⁃4368（2024）02⁃197⁃09
doi：10.7655/NYDXBNSN230553

Metabolomics and exoomics studies in pediatirc acute lymphoblastic leukemia

WANG Xiang，XU Yuhao，SUN Yu，LU Chao *
Department of Pediatrics，the First Affiliated Hospital of Nanjing Medical University，Nanjing 210029，China

［Abstract］ Objective：To explore the genetic alterations and metabolite changes in pediatric acute lymphoblastic leukemia（ALL）.
Methods：From September 2021 to May 2022，4 children with ALL who were treated for the first time in the Department of Pediatrics
of the First Affiliated Hospital of Nanjing Medical University were selected as the experimental group，and 4 healthy children who
underwent physical examination in this hospital at the same time were selected as the control group. Clinical data and serum samples
were collected. Serum metabolite profiling was performed by liquid chromatography⁃mass spectrometry，and genetic variations were
analyzed by exome sequencing. Results：Metabolomics revealed that 61 metabolites have difference，with 37 showing increased
expression in ALL. The most significant upregulated metabolites were identified as cresol and deoxycholic acid. Additionally，24
metabolites exhibited decreased expression，with 1 ⁃ pyrroline ⁃ 5 ⁃ carboxylic acid and serotonin，etc.，being the most significantly
downregulated metabolites. Exonomics has revealed that among the top ten genes ranked by protein interactions include MUC17.
Conclusion：There are obvious differences in serum metabolites between children with ALL and healthy children，involving a variety of
metabolic pathway changes，and the differential metabolites identified are of great significance for the diagnosis and treatment of ALL.
Exome sequencing suggests that genes such as MUC17 may play a certain role in the occurrence of ALL，providing novel concepts and
approaches for the study and clinical pharmacotherapy of ALL.
［Key words］ acute lymphoblastic leukemia；metabolomics；differential metabolites；exomics
［J Nanjing Med Univ，2024，44（00）：197⁃204，234］

急性淋巴细胞白血病（acute lymphoblastic leu⁃ kemia，ALL）是儿童最常见的癌症类型，占所有白血
病的 70%~80%，约占儿童癌症的 27.3% 。ALL 以
［1］
［基金项目］ 国家自然科学基金（81770162） 未成熟前体细胞克隆性增殖为特征，进展迅速，通
［2］
∗ 常出现时无明显前驱症状 。ALL是在多种因素共
通信作者（Corresponding author），E⁃mail：luchaodoctor@163.com