| Literature DB >> 27756164 |
Marcin Braun1,2,3, Agata Pastorczak1, Wojciech Fendler4, Joanna Madzio1,3, Bartlomiej Tomasik4, Joanna Taha1, Marta Bielska1, Lukasz Sedek5, Tomasz Szczepanski5, Michal Matysiak6, Katarzyna Derwich7, Monika Lejman8, Jerzy Kowalczyk8, Bernarda Kazanowska9, Wanda Badowska10, Jan Styczynski11, Nina Irga-Jaworska12, Joanna Trelinska1, Beata Zalewska-Szewczyk1, Filip Pierlejewski1, Iwona Wlodarska13, Wojciech Młynarski1.
Abstract
The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In order to investigate the prognostic impact of deletions and promoter methylation within 9p21, 641 children with newly diagnosed BCP-ALL using methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) were investigated. A total of 169 (26.4%) microdeletions in 9p21 were detected, of which 71 were homozygous. Patients with CDKN2A homozygous deletions were older at diagnosis (p < .001), more frequently steroid resistant (p = .049), had higher WBC count (p < .001), higher MRD at Day 15 (p = .013) and lower relapse-free survival [p = .028, hazard ratio: 2.28 (95% confidence interval: 1.09-4.76)] than patients without these alterations. CDKN2A homozygous deletions coexisted with IKZF1 and PAX5 deletions (p < .001). In conclusion, CDKN2A homozygous deletions, but not promoter methylation, are associated with poor response to treatment and increased relapse risk of pediatric BCP-ALL.Entities:
Keywords: 9p21 chromosomal region; Childhood BCP-ALL; MLPA; MRD; microdeletions; prognostic factors
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Year: 2016 PMID： 27756164 DOI： 10.1080/10428194.2016.1228925
Source DB: PubMed Journal: Leuk Lymphoma ISSN： 1026-8022