Durak Aras Beyhan, Isik Sevgi, Uskudar Teke Hava, Aslan Abdulvahap, Yavasoglu Filiz, Gulbas Zafer, Demirkan Fatih, Ozen Hulya, Cilingir Oguz, Inci Nur Sena, Gunden Gulcin, Bulduk Tuba, Erzurumluoglu Gokalp Ebru, Kocagil Sinem, Artan Sevilhan, Akay Olga Meltem
Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Professor Dr. Nabi Avcı Street, No. 4, Eskisehir, Buyukdere, 26040, Turkey.
Department of Hematology, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey.
Mol Cytogenet. 2021 Jan 6;14(1):2. doi: 10.1186/s13039-020-00522-1.
Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it is observed the clinical course of CLL cases with del(13q) are quite heterogeneous and the responsible for this clinical heterogeneity has not been established yet. Some investigators suggest type II deletion (include RB1 gene) is associated with more aggressive clinical course. Also, it is suggested that the deletion burden and the deletion type have a prognostic effect. In this study, we aimed to investigate the effect of RB1 gene deletion, deletion burden and deletion type on overall survival (OS), disease stage and time to first treatment (TTFT) in patients with isolated del(3q). Sixty eight cases, detected isolated del(13q) were included in the study. Also, RB1 deletion was analyzed from peripheral blood of them using FISH.
RB1 deletion was detected in 41% of patients, but there was no statistically significant difference between RB1 deletion and TTFT, stage and OS (p > 0.05). At same time, statistically significant difference was detected between high del(13q) (> 80%) and TTFT (p < 0.05).
The statistical analysis of our data regarding to the association between RB1 deletion and deletion type, TTFT, disease stage, and OS has not confirmed type II deletion or biallelic deletion cause poor prognosis. However, our data supports the deletion burden has a prognostic effect. More studies are needed to elucidate the cause of the clinical heterogeneity of CLL cases with del(13q).
13q14缺失[del(13q)]是慢性淋巴细胞白血病（CLL）中最常见的细胞遗传学改变（50%），如果通过荧光原位杂交（FISH）检测为唯一异常，则是一个良好的预后因素。然而，观察到del(13q)的CLL病例临床过程差异很大，且这种临床异质性的原因尚未明确。一些研究者认为II型缺失（包括RB1基因）与更具侵袭性的临床过程相关。此外，有人提出缺失负荷和缺失类型具有预后作用。在本研究中，我们旨在探讨RB1基因缺失、缺失负荷和缺失类型对孤立性del(13q)患者总生存期（OS）、疾病分期和首次治疗时间（TTFT）的影响。68例检测到孤立性del(13q)的病例纳入研究。此外，使用FISH从他们的外周血中分析RB1缺失情况。
41%的患者检测到RB1缺失，但RB1缺失与TTFT、分期和OS之间无统计学显著差异（p＞0.05）。同时，高del(13q)（＞80%）与TTFT之间检测到统计学显著差异（p＜0.05）。
我们关于RB1缺失与缺失类型、TTFT、疾病分期和OS之间关联的数据统计分析未证实II型缺失或双等位基因缺失会导致不良预后。然而，我们的数据支持缺失负荷具有预后作用。需要更多研究来阐明del(13q)的CLL病例临床异质性的原因。
