Language
English
Publication Date
1-1-2024
Journal
Frontiers in Oncology
DOI
10.3389/fonc.2024.1426638
PMID
38939333
PMCID
PMC11208450
PubMedCentral® Posted Date
6-13-2024
PubMedCentral® Full Text Version
Post-print
Abstract
Risk stratification and molecular targeting have been key to increasing cure rates for pediatric cancers in high-income countries. In contrast, precise diagnosis in low-resource settings is hindered by insufficient pathology infrastructure. The Global HOPE program aims to improve outcomes for pediatric cancer in Sub-Saharan Africa (SSA) by building local clinical care and diagnostic capacity. This study aimed to assess the feasibility of implementing molecular assays to improve leukemia diagnoses in SSA. Custom NanoString nCounter gene fusion assays, previously validated in the US, were used to test samples from suspected leukemia patients. The NanoString platform was chosen due to relatively low cost, minimal technical and bioinformatics expertise required, ability to test sub-optimal RNA, and rapid turnaround time. Fusion results were analyzed blindly, then compared to morphology and flow cytometry results. Of 117 leukemia samples, 74 were fusion-positive, 30 were negative, 7 were not interpretable, and 6 failed RNA quality. Nine additional samples were negative for leukemia by flow cytometry and negative for gene fusions. All 74 gene fusions aligned with the immunophenotype determined by flow cytometry. Fourteen samples had additional information available to further confirm the accuracy of the gene fusion results. The testing provided a more precise diagnosis in >60% of cases, and 9 cases were identified that could be treated with an available tyrosine kinase inhibitor, if detected at diagnosis. As risk-stratified and targeted therapies become more available in SSA, implementing this testing in real-time will enable the treatment of pediatric cancer to move toward incorporating risk stratification for optimized therapy.
Keywords
pediatric leukemia, childhood leukemia, Africa, LMIC, molecular diagnosis, gene fusion, nanostring nCounter, genomics
Published Open-Access
yes
Recommended Citation
Gastier-Foster, Julie M; Lutwama, Fredrick; Mbabazi, Olive; et al., "Rapid Gene Fusion Testing Using the Nanostring Ncounter Platform to Improve Pediatric Leukemia Diagnoses in Sub-Saharan Africa" (2024). Faculty and Staff Publications. 5638.
https://digitalcommons.library.tmc.edu/baylor_docs/5638
Included in
Allergy and Immunology Commons, Biological Phenomena, Cell Phenomena, and Immunity Commons, Oncology Commons, Pathology Commons, Pediatrics Commons