Sudutan Tugce, Erbilgin Yucel, Hatirnaz Ng Ozden, Karaman Serap, Karakas Zeynep, Kucukcankurt Fulya, Celkan Tiraje, Timur Cetin, Ozdemir Gul Nihal, Hacısalihoglu Sadan, Gelen Sema Aylan, Sayitoğlu Müge
Genetics Department, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Institute of Health Sciences, Istanbul University, Istanbul, Turkey.
Leuk Lymphoma. 2022 Dec;63(12):2931-2939. doi: 10.1080/10428194.2022.2095630. Epub 2022 Aug 3.
B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous malignancy and consists of several genetic abnormalities. Some of these abnormalities are used in clinics for risk calculation and treatment decisions. Patients with rearrangements had a distinct expression profile regardless of their diagnosis, BCP-ALL or mixed phenotype acute leukemia (MPAL) and defined as a new subtype of ALL. In this study, we screened 42 MPAL and 91 BCP-ALL patients for the most common fusions; Z and by using PCR. We identified fusions in 9.5% of MPAL and 7.6% of BCP-ALL. A novel breakpoint was identified in fusion in one BCP-ALL patient. T-myeloid MPAL patients showed significantly lower expression compared to lymphoid groups. Patients with r had intermediate survival rates based on other subtypes. Prognostic and patient-specific treatment evaluation of fusions in both ALL and MPAL might help to improve risk characterization of patients.
B细胞前体急性淋巴细胞白血病（BCP-ALL）是一种异质性恶性肿瘤，由多种基因异常组成。其中一些异常在临床上用于风险计算和治疗决策。无论诊断为BCP-ALL还是混合表型急性白血病（MPAL），发生重排的患者都有独特的表达谱，并被定义为ALL的一种新亚型。在本研究中，我们通过聚合酶链反应（PCR）对42例MPAL患者和91例BCP-ALL患者进行筛查，以检测最常见的融合基因；Z和 。我们在9.5%的MPAL患者和7.6%的BCP-ALL患者中鉴定出融合基因。在1例BCP-ALL患者中，在融合基因中鉴定出一个新的断点。与淋巴样组相比，T髓系MPAL患者的 表达显著降低。r患者的生存率基于其他亚型处于中等水平。对ALL和MPAL中融合基因进行预后和患者特异性治疗评估可能有助于改善患者的风险特征。
