Related Experiment Video

Updated: Apr 19, 2026

Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia
08:31

Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia

Published on: October 17, 2025

883

Genomic and pharmacogenetic studies of childhood acute lymphoblastic leukemia

Ching-Hon Pui1

  • 1Departments of Oncology and Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA, ching-hon.pui@stjude.org.

Frontiers of Medicine
|December 17, 2014
PubMed

Insights

Improving childhood acute lymphoblastic leukemia (ALL) outcomes requires understanding drug resistance and genetic mutations. Personalized therapies targeting specific leukemic cell lesions are advancing treatment for better patient quality of life.

Area of Science:

  • Pediatric Oncology
  • Cancer Genomics
  • Translational Medicine

Background:

  • Childhood acute lymphoblastic leukemia (ALL) cure rates are high, but further improvements are needed.
  • Understanding drug resistance mechanisms is crucial for enhancing treatment efficacy.
  • Identifying novel genetic lesions in leukemic cells can guide targeted therapy development.

Purpose of the Study:

  • To explore advancements in understanding childhood ALL.
  • To identify new genetic targets for personalized treatment strategies.
  • To optimize treatment based on patient-specific factors like pharmacodynamics and pharmacogenomics.

Main Methods:

  • Genome-wide analyses to identify genetic abnormalities and fusion transcripts.
  • Characterization of leukemic cell genetic lesions.
  • Investigation of inherited cancer predisposing genes and single nucleotide polymorphisms.

Main Results:

  • Discovery of new ALL subtypes, including early T-cell precursor ALL and Philadelphia chromosome-like ALL.
  • Identification of numerous genomic alterations with diagnostic, prognostic, and therapeutic significance.
  • Revelation of novel fusion transcripts responsive to ABL and JAK inhibitors.
  • Unraveling the role of inherited genetic factors in ALL development.

Conclusions:

  • Advances in characterizing leukemic genetics are paving the way for personalized treatment strategies.
  • Targeted therapies based on specific genetic alterations show promise for improved outcomes.
  • Pharmacogenomic and pharmacodynamic insights will refine treatment optimization for childhood ALL patients.

More Related Videos

Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia10:49

Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia

Published on: September 18, 2013

18.8K
Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

8.1K

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
74
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
104
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
135
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
214
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
373
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
6.4K