Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?

Molecular Cytogenetics

Hulya Ozen¹  Zafer Gulbas²  Filiz Yavasoglu³  Tuba Bulduk⁴  Hava Uskudar Teke⁴  Olga Meltem Akay⁵  Abdulvahap Aslan⁶  Ebru Erzurumluoglu Gokalp⁷  Beyhan Durak Aras⁷  Sevgi Isik⁷  Sevilhan Artan⁷  Nur Sena Inci⁷  Gulcin Gunden⁷  Oguz Cilingir⁷  Sinem Kocagil⁷  Fatih Demirkan⁸ 

[1] Department of Biostatistics, Faculty of Medicine, University of Eskisehir Osmangazi;Department of Hematology, Anadolu Medical Center;Department of Hematology, Faculty of Medicine, University of Afyonkarahisar Health Sciences;Department of Hematology, Faculty of Medicine, University of Eskisehir Osmangazi;Department of Hematology, Faculty of Medicine, University of Koc;Department of Hematology, Private Umit Hospital;Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi;Department of Oncology, Faculty of Medicine, University of Dokuz Eylul;

关键词: B-CLL;    FISH;    Prognostic marker;    RB1 deletions;    13q deletions;   

DOI  :  10.1186/s13039-020-00522-1

来源: DOAJ

【 摘 要 】

Abstract Background 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. Results 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). Conclusion 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).

【 授权许可】

Unknown