Mediterranean Journal of Hematology and Infectious Diseases

Basit Öğe Kaydı
dc.authorwosidSayitoglu, Muge/B-6578-2015
dc.contributor.authorQipa, Egzona
dc.contributor.authorAcar, Muradiye
dc.contributor.authorBozkurt, Sureyya
dc.contributor.authorBuyukdogan, Murat
dc.contributor.authorSonmez, Hazal B.
dc.contributor.authorSayitoglu, Muge
dc.contributor.authorErbilgin, Yucel
dc.date.accessioned2024-05-19T14:39:16Z
dc.date.available2024-05-19T14:39:16Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractAcute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells. B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitor B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations lead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study, we aimed to examine hot spot genetic variations in the RUNX1, IDH2, and IL2RA genes in a group of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare RUNX1 variant p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the patients had the IDH2 variant.RUNX1, IDH2, and IL2RA variations were rare events in ALL. This study detected a novel pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling pathway components will pilot more accurate prognosis estimations.en_US
dc.identifier.doi10.4084/MJHID.2023.036
dc.identifier.issn2035-3006
dc.identifier.issue1en_US
dc.identifier.pmid37435033en_US
dc.identifier.urihttps://doi.org10.4084/MJHID.2023.036
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4740
dc.identifier.volume15en_US
dc.identifier.wosWOS:001024145600001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_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.snmz20240519_kaen_US
dc.subjectB-Allen_US
dc.subjectRunx1en_US
dc.subjectIl2raen_US
dc.subjectIdh2en_US
dc.titleMediterranean Journal of Hematology and Infectious Diseasesen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu