The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies

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dc.authoridKirkizlar, Onur/0000-0001-7523-8599
dc.authoridKalkan, Rasime/0000-0002-6095-7352
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDemirci, Ufuk/0000-0001-6923-1470
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidKirkizlar, Onur/W-9594-2018
dc.authorwosidKalkan, Rasime/X-4808-2019
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, Engin
dc.contributor.authorKirkizlar, Hakki Onur
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorDemirci, Ufuk
dc.date.accessioned2024-06-12T11:03:05Z
dc.date.available2024-06-12T11:03:05Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractAdvanced diagnostic methods give an advantage for the identification of abnormalities in myeloid malignancies. Various researchers have shown the potential importance of genetic tests before the disease's onset and in remission. Large testing panels prevent false-negative results in myeloid malignancies. However, the critical question is how the results of conventional cytogenetic and molecular cytogenetic techniques can be merged with NGS technologies. In this paper, we drew an algorithm for the evaluation of myeloid malignancies. To evaluate genetic abnormalities, we performed cytogenetics, molecular cytogenetics, and NGS testing in myeloid malignancies. In this study, we analyzed 100 patients admitted to the Medical Genetics Laboratory with different myeloid malignancies. We highlighted the possible diagnostic algorithm for cytogenetically normal cases. We applied NGS 141 gene panel for cytogenetically normal patients, and we detected two or more pathogenic variations in 61 out of 100 patients (61%). NGS's pathogenic variation detection rate varies in disease groups: they were present in 85% of A.M.L. and 23% of M. D.S. Here, we identified 24 novel variations out of total pathogenic variations in myeloid malignancies. A total of 18 novel variations were identified in A.M.L., and 6 novel variations were identified in M.D.S. Despite long turnaround times, conventional techniques are still a golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot be easily identified by conventional techniques. In these conditions, advanced technologies like NGS are highly recommended.en_US
dc.identifier.doi10.4084/MJHID.2021.013
dc.identifier.issn2035-3006
dc.identifier.pmid33489052en_US
dc.identifier.scopus2-s2.0-85099620699en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.4084/MJHID.2021.013
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21524
dc.identifier.volume13en_US
dc.identifier.wosWOS:000608410600001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMattioli 1885en_US
dc.relation.ispartofMediterranean Journal Of Hematology And Infectious Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHematologic Malignanciesen_US
dc.subjectNGSen_US
dc.subjectKaryotypeen_US
dc.subjectFISHen_US
dc.subjectMutationsen_US
dc.subjectDiagnosisen_US
dc.subjectNeoplasmsen_US
dc.subjectClassificationen_US
dc.subjectLeukemiaen_US
dc.subjectUtilityen_US
dc.subjectPanelen_US
dc.titleThe Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignanciesen_US
dc.typeArticleen_US

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