98%
921
2 minutes
20
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590101 | PMC |
http://dx.doi.org/10.3324/haematol.2012.069716 | DOI Listing |
Front Oncol
August 2025
Department of Internal Medicine, Shaanxi Provincial Cancer Hospital, Xi'an, Shaanxi, China.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, with proto-oncogene, receptor tyrosine kinase (c-kit), or PDGFRα mutations detected in around 85% of cases. GISTs without c-kit or platelet-derived growth factor receptor alpha (PDGFRα) mutations are considered wild-type (WT). Recently, some molecular alterations, including neurotrophic tyrosine receptor kinase (NTRK) fusions, have been reported in very few cases of WT GISTs.
View Article and Find Full Text PDFInt J Lab Hematol
September 2025
Department of Medical Oncology, Dr BRA IRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Introduction: B-cell acute lymphoblastic leukemia (B-ALL) is genetically heterogeneous. We assessed the utility of FusionPlex ALL targeted RNA sequencing panel in detecting gene fusions and other genomic lesions in B-ALL.
Methods: The high-risk B-ALL, negative for common recurrent gene fusions (RGF), that is, BCR::ABL1, ETV6::RUNX1, TCF3::PBX1 and KMT2A::AFF1, were analysed with RNA-based targeted sequencing 81-gene-panel FusionPlex ALL (IDT, USA).
Pan Afr Med J
August 2025
Hematology and Pediatric Oncology Department of August 20 Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.
This case presents an 8-year-old girl diagnosed with B-cell acute lymphoblastic leukemia (B-ALL), who relapsed after 3 years of treatment and 1 year of complete remission, with an unusual extramedullary relapse in the ovary. Ovarian relapse of B-ALL is extremely rare in children, making this case noteworthy in scientific literature. The patient had an initial diagnosis of B-ALL with a deletion of chromosome 12, a genetic alteration previously associated with the ETV6-RUNX1 fusion gene, which is typically linked to a favorable prognosis but also carries a 20% risk of late relapse.
View Article and Find Full Text PDFLeukemia
September 2025
The Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
ETV6::RUNX1 leukemia is the second most common subtype of childhood B cell acute lymphoblastic leukemia (B-ALL). Although it generally has a low relapse risk, a significant proportion of B-ALL relapses occur within this subtype due to its relatively high incidence. Measurable residual disease at the end of induction therapy is a well-established biomarker predicting treatment outcomes, while no genomic biomarkers are routinely applied in clinics.
View Article and Find Full Text PDFLab Invest
May 2025
Laboratory Oncology, AIIMS, New Delhi, India. Electronic address:
Whole-transcriptomic sequencing (WTS) has remarkably advanced our understanding of B-lineage acute lymphoblastic leukemia (B-ALL), allowing for detailed gene expression profiling and discovery of novel therapeutically relevant subtypes. The aim of this study was to evaluate the diagnostic and prognostic relevance of combining WTS with traditional genetic methods in risk-stratifying B-ALL. In a cohort of 394 patients (301 children and 93 adults), conventional techniques such as fluorescence in situ hybridization, cytogenetics, and reverse-transcription PCR identified sentinel chromosomal abnormalities like BCR::ABL1, TCF3::PBX1, ETV6::RUNX1, and KMT2A-R (rearranged), and ploidy status.
View Article and Find Full Text PDF