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  • Küçük Resim
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    Aberrant activation-induced cytidine deaminase gene expression links BCR/ABL1-negative classical myeloproliferative neoplasms
    (TR- Dizin, 2022) Dermenci, Hasan; Dağlar Aday, Aynur; Akadam Teker, Ayşegül Başak; Hançer, Veysel; Gelmez, Metin Yusuf; Nalçacı, Meliha; Yavuz, Akif Selim
    Aim: Activation-induced cytidine deaminase (AID) has been associated with tumor initiation and development because of its ability to generate DNA damage and somatic mutations that cause genomic instability. This study aimed to investigate the relationship between AID expression levels and the risk of developing BCR/ABL1-negative myeloproliferative neoplasms (MPNs) by comparing the AID expression levels of the patients and controls. Methods: This case-control study was conducted on 117 cases (64 essential thrombocythemia, 23 primary myelofibrosis, and 30 polycythemia vera) with MPNs and 69 healthy controls. The JAK2 V617F somatic mutation analysis was performed using a real-time polymerase chain reaction (RT-PCR). The relative expression levels of AID in the patient and the control groups were analyzed using quantitative RT-PCR and the 2-??CT method. Results: AID expression levels were significantly higher in the patient group compared to the control group (p<0.001). AID expression levels were higher in patients with the JAK2 V617F mutation compared to patients without the mutation, but the difference was not statistically significant. Conclusion: The results of our study suggest that although overexpression of AID does not seem to support the JAK2 driver gene, it may contribute to the development of MPNs through other mechanisms.
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    A case mimicking chronic myeloid leukemia with t(8;22)(p11;q11)/BCR-FGFR1 and sequential transformation to B-acute lymphoblastic leukemia and acute myeloid leukemia
    (Springer Science and Business Media Deutschland GmbH, 2021) Bayrak, Ayşe Gül; Uçur, Ali; Dağlar-Aday, Aynur; Bağatır, Gülçin; Erdem, Simge; Hançer, Veysel Sabri; Nalçacı, Meliha; Öztürk, Şükrü; Cefle, Kıvanç; Palandüz, Şükrü; Yavuz, Akif Selim
    Myeloid/lymphoid neoplasm is a rare malignancy with an aggressive course and rapid transformation to acute myeloid leukemia (AML), or less frequently to acute lymphoblastic leukemia (ALL). Cases with t(8;22)(p11;q11) BCR-FGFR1 fusion gene may be misdiagnosed with chronic myeloid leukemia (CML), due to a very similar morphologic and clinical profile. We report a case of 48-year-old woman who complained of weakness and gastric pain. She had splenomegaly, eosinophilia, and elevated white blood cells. Bone marrow (BM) aspiration biopsy was performed with an initial diagnosis of CML. Cytogenetic analysis of the BM showed a 46,XX,t(8;22)(p11.2;q11.2). She was diagnosed with myeloid/lymphoid neoplasm with eosinophilia and rearrangement of FGFR1 gene. Throughout the chronic phase, the patient was treated with hydroxurea. Additional chromosomal abnormalities developed during therapy. Owing to the (8;22) clone, our patient did not respond to the treatment and rapidly transformed first to B-ALL and then AML. To the best of our knowledge, this is the first MPN patient with rearrangement of BCR and FGFR1 genes with rapid transformation to B-ALL and then to AML.