Show simple item record

AuthorAmbayya, Angeli
AuthorRazali, Rozaimi
AuthorSulong, Sarina
AuthorZulkefli, Ezzanie Suffya
AuthorYap, Yee Yee
AuthorSathar, Jameela
AuthorHassan, Rosline
Available date2023-05-11T11:04:33Z
Publication Date2023-02-22
Publication NameCancers
Identifierhttp://dx.doi.org/10.3390/cancers15051386
CitationAmbayya, 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.
URIhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85149888435&origin=inward
URIhttp://hdl.handle.net/10576/42647
AbstractCharacterising 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.
SponsorThis research was funded by Universiti Sains Malaysia, grant number GIPS-PhD 311/PPSP/4404814 (23 April 2020). Universiti Sains Malaysia funded the APC.
Languageen
PublisherMultidisciplinary Digital Publishing Institute (MDPI)
Subjectacute myeloid leukaemia
functional enrichment
gene expression
next generation sequencing
somatic variants
TitleGenomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing
TypeArticle
Issue Number5
Volume Number15
ESSN2072-6694
dc.accessType Open Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record