Kurtovic-Kozaric Amina, Islamagic Erna, Asic Adna, Mehinovic-Cavcic Lejla, Besic Larisa, Sahinbegovic Hana, Komic Hana, Kurtovic Sabira, Burazerovic Lejla
Department of Clinical Pathology, Cytology and Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina; Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina; Department of Genetics and Bioengineering, International Burch University, Sarajevo, Bosnia and Herzegovina.
Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
Acta Med Acad. 2021 Apr;50(1):175-196. doi: 10.5644/ama2006-124.334.
Here we describe the major genetic and genomic aberrations found in myeloid malignancies and how those markers are used in patients' diagnosis, prognosis, and targeted treatment. In Bosnia and Herzegovina, cytogenetic and molecular diagnostics for myeloid malignancies have been established and continually improved since 2005. We report the current state of available diagnostic tools for myeloid malignancies in Bosnia and Herzegovina. Myeloid malignancies are a heterogeneous group of clonal blood diseases characterized by defects in hematopoietic stem cells and myeloid progenitors that lead to abnormal proliferation, differentiation, localization, and self-renewal. Most common myeloid malignancies include myeloproliferative neoplasms (MPNs), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). Molecular diagnostics of myeloid malignancies have significantly expanded in the last decade with new genetic and genomic markers for diagnosis, prognosis, and treatment. CONCLUSION: In the last decade, several new genomic markers important for patient diagnosis, prognosis, and therapy have been discovered that need to be implemented in routine molecular diagnostics not only in developed nations but also in developing nations such as Bosnia and Herzegovina.
在此，我们描述了在髓系恶性肿瘤中发现的主要遗传和基因组畸变，以及这些标志物如何用于患者的诊断、预后评估和靶向治疗。自2005年以来，波斯尼亚和黑塞哥维那已建立并不断改进了髓系恶性肿瘤的细胞遗传学和分子诊断方法。我们报告了波斯尼亚和黑塞哥维那现有髓系恶性肿瘤诊断工具的当前状况。髓系恶性肿瘤是一组异质性的克隆性血液疾病，其特征是造血干细胞和髓系祖细胞存在缺陷，导致异常增殖、分化、定位和自我更新。最常见的髓系恶性肿瘤包括骨髓增殖性肿瘤（MPN）、骨髓增生异常综合征（MDS）和急性髓系白血病（AML）。在过去十年中，随着用于诊断、预后评估和治疗的新遗传和基因组标志物的出现，髓系恶性肿瘤的分子诊断有了显著扩展。结论：在过去十年中，已发现了几种对患者诊断、预后评估和治疗很重要的新基因组标志物，这些标志物不仅需要在发达国家，而且需要在波斯尼亚和黑塞哥维那等发展中国家的常规分子诊断中得到应用。
