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本文引用的文献

1
TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.TPMT 和 NUDT15 基因分型推荐：分子病理学协会、临床药物遗传学实施联盟、美国病理学家学院、荷兰皇家药剂师协会药物遗传学工作组、欧洲药物基因组学和个体化治疗学会以及药物基因组学知识库的联合共识推荐。
J Mol Diagn. 2022 Oct;24(10):1051-1063. doi: 10.1016/j.jmoldx.2022.06.007. Epub 2022 Aug 2.
2
Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia.全面分析急性淋巴细胞白血病患儿 TPMT 和 NUDT15 中的遗传变异。
Pharmacogenet Genomics. 2022 Feb 1;32(2):60-66. doi: 10.1097/FPC.0000000000000453.
3
Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?输注红细胞会影响生殖系基因检测结果吗？
J Pers Med. 2020 Dec 9;10(4):268. doi: 10.3390/jpm10040268.
4
Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.隐匿性亚二倍体：儿童中表现为超二倍体急性淋巴细胞白血病（ALL）的亚二倍体急性淋巴细胞白血病：来自儿童肿瘤学组的报告。
Cancer Genet. 2019 Oct;238:62-68. doi: 10.1016/j.cancergen.2019.07.009. Epub 2019 Jul 30.
5
Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.基于 TPMT 和 NUDT15 基因型的硫嘌呤药物剂量调整：临床药物遗传学实施联盟指南 2018 年更新版。
Clin Pharmacol Ther. 2019 May;105(5):1095-1105. doi: 10.1002/cpt.1304. Epub 2019 Jan 20.
6
Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients.异基因造血细胞移植受者药物遗传学中基因型确定的挑战。
J Mol Diagn. 2016 Sep;18(5):638-642. doi: 10.1016/j.jmoldx.2016.03.007. Epub 2016 Jun 29.
7
Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia.遗传性NUDT15变异是急性淋巴细胞白血病患儿巯嘌呤不耐受的遗传决定因素。
J Clin Oncol. 2015 Apr 10;33(11):1235-42. doi: 10.1200/JCO.2014.59.4671. Epub 2015 Jan 26.
8
Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity.巯嘌呤药物遗传学：红细胞硫嘌呤甲基转移酶活性的单基因遗传
Am J Hum Genet. 1980 Sep;32(5):651-62.

An Ambiguous NUDT15 Signal in a Child with B-cell Acute Lymphoblastic Leukemia.

作者信息

Sterner Rosalie M, Sherani Farha, DiGuardo Margaret A, Greipp Patricia T, Moyer Ann M

机构信息

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.

Cancer and Blood Disorders Center, Driscoll Children's Hospital, Corpus Christi, TX, United States.

出版信息

Clin Chem. 2025 Aug 1;71(8):835-839. doi: 10.1093/clinchem/hvaf028.

DOI:10.1093/clinchem/hvaf028
PMID:40746189
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12314291/
Abstract
摘要