An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3


IŞIK S., Gunden G., GÜNDÜZ E., Akay O. M. , Aslan A., ÖZEN H., ...More

CYTOGENETIC AND GENOME RESEARCH, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2021
  • Doi Number: 10.1159/000520242
  • Journal Name: CYTOGENETIC AND GENOME RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Keywords: CLL, CGH plus SNP microarray, Prognostic marker, 13q deletions, CHRONIC LYMPHOCYTIC-LEUKEMIA, NOTCH1 MUTATIONS, 13Q14 DELETIONS, MICROARRAY, LOSSES, NUMBER, IMPACT, GENES
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We found new prognostic markers, especially the gain of 16p13.3. These markers have statistically significant associations with short time to first treatment and advanced disease stage. Detecting both CNVs and LOH at the same time is an advantageous feature of aCGH+SNP. However, it is very challenging for the array analysis to detect mosaic anomalies. Therefore, it is very important to confirm the results by FISH. In our study, we detected approximately 9% mosaic del(13q) by microarray. In addition, the gain of 16p13.3 may affect the disease prognosis in CLL. However, additional studies with more patients are needed to confirm these results.