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المؤلفAmbayya, Angeli
المؤلفRazali, Rozaimi
المؤلفSulong, Sarina
المؤلفZulkefli, Ezzanie Suffya
المؤلفYap, Yee Yee
المؤلفSathar, Jameela
المؤلفHassan, Rosline
تاريخ الإتاحة2023-05-11T11:04:33Z
تاريخ النشر2023-02-22
اسم المنشورCancers
المعرّفhttp://dx.doi.org/10.3390/cancers15051386
الاقتباسAmbayya, A., Razali, R., Sulong, S., Zulkefli, E. S., Yap, Y. Y., Sathar, J., & Hassan, R. (2023). Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing. Cancers, 15(5), 1386.
معرّف المصادر الموحدhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85149888435&origin=inward
معرّف المصادر الموحدhttp://hdl.handle.net/10576/42647
الملخصCharacterising genomic variants is paramount in understanding the pathogenesis and heterogeneity of normal-karyotype acute myeloid leukaemia (AML-NK). In this study, clinically significant genomic biomarkers were ascertained using targeted DNA sequencing and RNA sequencing on eight AML-NK patients’ samples collected at disease presentation and after complete remission. In silico and Sanger sequencing validations were performed to validate variants of interest, and they were followed by the performance of functional and pathway enrichment analyses for overrepresentation analysis of genes with somatic variants. Somatic variants involving 26 genes were identified and classified as follows: 18/42 (42.9%) as pathogenic, 4/42 (9.5%) as likely pathogenic, 4/42 (9.5%) as variants of unknown significance, 7/42 (16.7%) as likely benign and 9/42 (21.4%) as benign. Nine novel somatic variants were discovered, of which three were likely pathogenic, in the CEBPA gene with significant association with its upregulation. Transcription misregulation in cancer tops the affected pathways involving upstream genes (CEBPA and RUNX1) that were deregulated in most patients during disease presentation and were closely related to the most enriched molecular function gene ontology category, DNA-binding transcription activator activity RNA polymerase II-specific (GO:0001228). In summary, this study elucidated putative variants and their gene expression profiles along with functional and pathway enrichment in AML-NK patients.
راعي المشروعThis research was funded by Universiti Sains Malaysia, grant number GIPS-PhD 311/PPSP/4404814 (23 April 2020). Universiti Sains Malaysia funded the APC.
اللغةen
الناشرMultidisciplinary Digital Publishing Institute (MDPI)
الموضوعacute myeloid leukaemia
functional enrichment
gene expression
next generation sequencing
somatic variants
العنوانGenomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing
النوعArticle
رقم العدد5
رقم المجلد15
ESSN2072-6694
dc.accessType Open Access


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