Potential diagnostic value of abnormal pyroptosis genes expression in myelodysplastic syndromes (MDS): A primary observational cohort study

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dc.contributor.authorSoltani, Mohammad
dc.contributor.authorSharifi, Mohammad Jafar
dc.contributor.authorKhalilian, Parvin
dc.contributor.authorSharifi, Mehran
dc.contributor.authorNematollahi, Pardis
dc.contributor.authorShapourian, Hooriyeh
dc.contributor.authorGanjalikhani Hakemi, Mazdak
dc.date.accessioned2024-05-30T06:25:15Z
dc.date.available2024-05-30T06:25:15Z
dc.date.issued2024
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Sağlık Bilim ve Teknolojileri Araştırma Enstitüsü
dc.description.abstractBackground: Myelodysplastic syndromes (MDS) are determined by ineffective hematopoiesis and bone marrow cytological dysplasia with somatic gene mutations and chromosomal abnormalities. Accumulating evidence has revealed the pivotal role of NLRP3 inflammasome activation and pyroptotic cell death in the pathogenesis of MDS. Although MDS can be diagnosed with a variety of morphologic and cytogenetic tests, most of these tests have limitations or problems in practice. Materials and Methods: In the present study, we evaluated the expression of genes that form the inflammasome (NLRP3, ASC, and CASP1) in bone marrow specimens of MDS patients and compared the results with those of other leukemias to evaluate their diagnostic value for MDS. Primary samples of this observational cohort study were collected from aspiration samples of patients with myelodysplastic syndromes (27 cases) and patients with non-myelodysplastic syndrome hematological cancers (45 cases). After RNA extraction and c.DNA synthesis, candidate transcripts and housekeeping transcripts were measured by real-time PCR method (SYBER Green assay). Using Kruskal-Wallis the relative gene expressions were compared and differences with p value less than 0.05 were considered as significant. Discrimination capability, cut-off, and area under curve (AUC) of all markers were analyzed with recessive operation curve (ROC) analysis. Results: We found that Caspase-1 and ASC genes expressed at more levels in MDS specimens compared to non-MDS hematological malignancies. A relative average expression of 10.22 with a p-value of 0.001 and 1.86 with p=0.019 was detected for Caspase-1 and ASC, respectively. ROC curve analysis shows an AUC of 0.739 with p=0.0001 for Caspase-1 and an AUC of 0.665 with p=0.0139 for ASC to MDS discrimination. Conclusion: Our results show that Caspase-1 and ASC gene expression levels can be used as potential biomarkers for MDS diagnosis. Prospective studies with large sample numbers are suggested.
dc.identifier.citationSoltani, M., Sharifi, M. J., Khalilian, P., Sharifi, M., Nematollahi, P., Shapourian, H. ... Ganjalikhani Hakemi, M. (2024). Potential diagnostic value of abnormal pyroptosis genes expression in myelodysplastic syndromes (MDS): A primary observational cohort study. International Journal of Hematology-Oncology and Stem Cell Research, 18(2), 156-164. http://dx.doi.org/10.18502/ijhoscr.v18i2.15371
dc.identifier.doi10.18502/ijhoscr.v18i2.15371
dc.identifier.endpage164
dc.identifier.issn1735-1243
dc.identifier.issue2
dc.identifier.pmid38868810
dc.identifier.scopus2-s2.0-85191812994
dc.identifier.scopusqualityQ3
dc.identifier.startpage156
dc.identifier.urihttp://dx.doi.org/10.18502/ijhoscr.v18i2.15371
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12534
dc.identifier.volume18
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGanjalikhani Hakemi, Mazdak
dc.language.isoen
dc.relation.ispartofInternational Journal of Hematology-Oncology and Stem Cell Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution-Noncommercial 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp:// creativecommons.org/licenses/by-nc/4.0*
dc.subjectASC
dc.subjectCasapase1
dc.subjectInflammasome
dc.subjectMyelodysplastic Syndromes
dc.subjectNLRP3
dc.subjectPyroptosis
dc.titlePotential diagnostic value of abnormal pyroptosis genes expression in myelodysplastic syndromes (MDS): A primary observational cohort study
dc.typeArticle

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