The influence of methotrexate-related transporter and metabolizing enzyme gene polymorphisms on peri-engraftment syndrome and graft-versus-host disease after haplo-hematopoietic stem cell transplantation in pediatric patients with malignant hematological diseases

Front Immunol. 2023 Sep 5:14:1229266. doi: 10.3389/fimmu.2023.1229266. eCollection 2023.

Abstract

Background: Methotrexate (MTX), utilized as a graft-versus-host disease (GvHD) prophylactic agent in allogeneic hematopoietic stem cell transplantation (allo-HSCT), has been proven to effectively decrease the occurrence of the peri-engraftment syndrome (Peri-ES) and acute GvHD (aGvHD). Changes in the pharmacodynamics of MTX are closely associated with gene polymorphisms in genes encoding drug-metabolizing enzymes and transporters. Nevertheless, the current studies mainly concentrate on leukemia or autoimmune diseases, and limited studies on allo-HSCT were reported.

Methods: Here, we retrospectively assessed the relationship between MTX-related transporter and metabolizing enzyme gene polymorphisms, clinical characteristics, and outcomes in 57 pediatric patients who received haploid HSCT (haplo-HSCT) with malignant tumors at a single center.

Results: We discovered all gene polymorphisms were in the Hardy-Weinberg equilibrium in our cohort. We discovered a significant correlation between platelet recovery time and ABCB1 (1236C>T) (p = 0.042). Compared with patients with SLCO1B1 (1865+4846T>C) TT, patients with SLCO1B1 (1865+4846T>C) TC/CC had an increased incidence of Peri-ES (p = 0.030). Based on the multivariate Cox analysis, we discovered that SLCO1B1 (1865+4846T>C) TT genotype was an independent protective factor for Peri-ES morbidity (hazard ratio (HR) = 0.464, p = 0.031), and the dose of mononuclear cells reinfused was significantly correlated with II-IV aGvHD (HR = 2.604, p = 0.039).

Conclusion: In summary, our findings prove that the host's genotypes might modify the risk of developing Peri-ES, contribute to a better understanding of the inter-individual difference in efficacy, and facilitate the development of individualized approaches to GvHD prophylaxis.

Keywords: GvHD; MTX; Peri-ES; SLCO1B1; gene polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Graft vs Host Disease* / genetics
  • Graft vs Host Disease* / prevention & control
  • Hematologic Diseases* / genetics
  • Hematologic Diseases* / therapy
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Humans
  • Immune System Diseases*
  • Liver-Specific Organic Anion Transporter 1
  • Membrane Transport Proteins
  • Methotrexate / therapeutic use
  • Retrospective Studies

Substances

  • Methotrexate
  • Membrane Transport Proteins
  • SLCO1B1 protein, human
  • Liver-Specific Organic Anion Transporter 1

Grants and funding

This work was supported by the National Key R&D Program of China (2022YFC2502700), National Natural Science Foundation of China (NSFC) (81970163, 82170218, 82100229, and 82200177), the Jiangsu Project (BE2021654 and BK20210097), the Suzhou project (SZS201615, GSWS2020039, SKY2022183, and SYS2020153), and the National Clinical Research Center for Hematological Disorders (2020ZKPB02).