English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background IKZF1  gene deletions have been identified as a poor prognostic factor in pediatric B-cell acute lymphoblastic leukemia (B-ALL), especially in the presence of co-occurring deletions ( IKZF1 plus  profile). This study aimed to determine the frequency of  IKZF1  deletions and deletions in other B-cell differentiation and cell cycle control genes, and their prognostic impact in Slovenian pediatric B-ALL patients. Patients and methods We studied a cohort of 99 patients diagnosed with B-ALL from January 2012 to December 2020 and treated according to the ALL IC-BFM 2009 protocol. Eighty-eight bone marrow or peripheral blood samples were analysed for copy number variations (CNVs) using the SALSA MLPA P335 ALL-IKZF1 probemix. Results At least one CNV was detected in more than 65% of analysed samples. The most frequently altered genes were  PAX5  and  CDKN2A/B  (30.7%, 26.1%, and 25.0%, respectively). Deletions in  IKZF1  were present in 18.2% of analysed samples and were associated with an inferior 5-year event-free survival (EFS; 54.8%  vs . 85.9%, p = 0.016). The  IKZF1 plus  profile was identified in 12.5% of the analysed samples, and these patients had an inferior 5-year EFS than those with deletions in  IKZF1  only and those without deletions (50.8%  vs . 75.0%  vs . 85.9%, respectively, p = 0.049). Overall survival (OS) was also worse in patients with the  IKZF1 plus  profile than those with deletions in  IKZF1  only and those without deletions (5-year OS 76.2%  vs . 100%  vs . 93.0%, respectively). However, the difference between the groups was not statistically significant. Conclusions Our results are in concordance with the results obtained in larger cooperative clinical trials. Copy number variations analysis using the SALSA MLPA kit is a reliable tool for initial diagnostic approach in children with B-ALL, even in smaller institutions in low- and middle-income countries.

radiology and oncology

Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience