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Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis in -familial platelet disorder.
Sci Transl Med
January 2025
Knight Cancer Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Familial platelet disorder (FPD) is associated with germline mutations, establishing a preleukemic state and increasing the risk of developing leukemia. Currently, there are no intervention strategies to prevent leukemia progression. Single-cell RNA sequencing ( = 10) combined with functional analysis of samples from patients with -FPD ( > 75) revealed that FPD hematopoietic stem and progenitor cells (HSPCs) displayed increased myeloid differentiation and suppressed megakaryopoiesis because of increased activation of prosurvival and inflammatory pathways.
View Article and Find Full Text PDFTargeted Variant Assessments of Human Endogenous Retroviral Regions in Whole Genome Sequencing Data Reveal Retroviral Variants Associated with Papillary Thyroid Cancer.
Microorganisms
November 2024
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Papillary thyroid cancer (PTC) is one of the fastest-growing cancers worldwide, lacking established causal factors or validated early diagnostics. Human endogenous retroviruses (HERVs), comprising 8% of human genomes, have potential as PTC biomarkers due to their comparably high baseline expression in healthy thyroid tissues, indicating homeostatic roles. However, HERV regions are often overlooked in genome-wide association studies because of their highly repetitive nature, low sequence coverage, and decreased sequencing quality.
View Article and Find Full Text PDFDetection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Cancers (Basel)
December 2024
Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.
partial tandem duplication (PTD) involves intragenic duplications and has been associated with poorer prognosis. In this study, we evaluated PTD in 1277 patients with hematological malignancies using optical genome mapping (OGM). PTD was detected in 35 patients with acute myeloid leukemia (AML) (7%), 5 patients with myelodysplastic syndrome (MDS) (2.
View Article and Find Full Text PDF[Mitoxantrone hydrochloride liposome combined with cytarabine for treating pediatric acute myeloid leukemia with RUNX1∷MTG16 fusion gene: a case report and literature review].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
This case report presents a patient with pediatric acute myeloid leukemia (AML) with RUNX1∷MTG16, admitted to the Blood Disease Hospital of the Chinese Academy of Medical Sciences in October 2023. He was 13 years old, with a chief complaint of fatigue for 20 days. Bone marrow smear revealed 17.
View Article and Find Full Text PDFArticle Synopsis
- Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
- Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
- Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
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