. 2014; 31(1): 40-48 | DOI: 10.4274/Tjh.2013.0023 | |||
Akut Miyeloid Lösemi Olan Erişkin Bulgar Hastalarda NPM1 Geni Tip A Mutasyonu: Tek Merkez ÇalışmasıGueorgui Balatzenko1, Branimir Spassov2, Nikolay Stoyanov3, Penka Ganeva2, Tihomit Dikov4, Spiro Konstantinov5, Vasil Hrischev6, Malina Romanova7, Stavri Toshkov7, Margarita Guenova31National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Cytogenetics And Molecular Biology, / Center Of Excellence For Translational Research İn Hematology, Sofia, Bulgaria2Center Of Excellence For Translational Research In Hematology, / National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, Sofia, Bulgaria 3Center Of Excellence For Translational Research In Hematology, / National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Hematopathology And Immunology, Sofia, Bulgaria 4National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Hematopathology And Immunology, Sofia, Bulgaria 5National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, / Medical University Of Sofia, Faculty Of Pharmacy, Department Of Pharmacology, Toxicology And Pharmacotherapy, Sofia, Bulgaria 6National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, Sofia, Bulgaria 7National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Cytogenetics And Molecular Biology, Sofia, Bulgaria AMAÇ: Nukleofosmin (NPM1) genine ait mutasyonlar değişik çalışmalarda farklı insidanslar bildirilmekle birlikte, akut miyeloid lösemi (AML)-ilişkili genetik bozuklukların en sık görülenidir ve bunlar arasında tip A (NPM1-A) en sık rastlanan tipidir. Ancak literatürdeki serilerin çoğu mutasyon tipinden bağımsız olarak tüm hastaların özelliklerini sunmakta olup, NPM1-A(+) olgular bundan önce ayrıntılı olarak tanımlanmamıştır. Bu yüzden, Bulgar AML hastalarında NPM1-A prevalansı değerlendirilmiş, klinik ve laboratuvar özellikler ile ilişkileri araştırılmıştır. NPM1 Gene Type A Mutation in Bulgarian Adults with Acute Myeloid Leukemia: A Single-Institution StudyGueorgui Balatzenko1, Branimir Spassov2, Nikolay Stoyanov3, Penka Ganeva2, Tihomit Dikov4, Spiro Konstantinov5, Vasil Hrischev6, Malina Romanova7, Stavri Toshkov7, Margarita Guenova31National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Cytogenetics And Molecular Biology, / Center Of Excellence For Translational Research İn Hematology, Sofia, Bulgaria2Center Of Excellence For Translational Research In Hematology, / National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, Sofia, Bulgaria 3Center Of Excellence For Translational Research In Hematology, / National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Hematopathology And Immunology, Sofia, Bulgaria 4National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Hematopathology And Immunology, Sofia, Bulgaria 5National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, / Medical University Of Sofia, Faculty Of Pharmacy, Department Of Pharmacology, Toxicology And Pharmacotherapy, Sofia, Bulgaria 6National Specialized Hospital For Active Treatment Of Hematological Diseases, Hematology Clinic, Sofia, Bulgaria 7National Specialized Hospital For Active Treatment Of Hematological Diseases, Laboratory Of Cytogenetics And Molecular Biology, Sofia, Bulgaria OBJECTIVE: Mutations of the nucleophosmin (NPM1) gene are considered as the most frequent acute myeloid leukemia (AML)- associated genetic lesion, reported with various incidences in different studies, and type A (NPM1-A) is the most frequent type. However, since most series in the literature report on the features of all patients regardless of the type of mutation, NPM1-A(+) cases have not been well characterized yet. Therefore, we evaluated the prevalence of NPM1-A in Bulgarian AML patients and searched for an association with clinical and laboratory features. Gueorgui Balatzenko, Branimir Spassov, Nikolay Stoyanov, Penka Ganeva, Tihomit Dikov, Spiro Konstantinov, Vasil Hrischev, Malina Romanova, Stavri Toshkov, Margarita Guenova. NPM1 Gene Type A Mutation in Bulgarian Adults with Acute Myeloid Leukemia: A Single-Institution Study. . 2014; 31(1): 40-48 Sorumlu Yazar: Gueorgui Balatzenko, Türkiye |
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