DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma

Zahra Haider, Mattias Landfors, Irina Golovleva, Martin Erlanson, Kjeld Schmiegelow, Trond Flægstad, Jukka Kanerva, Ulrika Norén-Nyström, Magnus Hultdin, Sofie Degerman


Despite having common overlapping immunophenotypic and morphological features, T-cell lymphoblastic leukemia (T-ALL) and lymphoma (T-LBL) have distinct clinical manifestations, which may represent separate diseases. We investigated and compared the epigenetic and genetic landscape of adult and pediatric T-ALL (n = 77) and T-LBL (n = 15) patient samples by high-resolution genome-wide DNA methylation and Copy Number Variation (CNV) BeadChip arrays. DNA methylation profiling identified the presence of CpG island methylator phenotype (CIMP) subgroups within both pediatric and adult T-LBL and T-ALL. An epigenetic signature of 128 differentially methylated CpG sites was identified, that clustered T-LBL and T-ALL separately. The most significant differentially methylated gene loci included the SGCE/PEG10 shared promoter region, previously implicated in lymphoid malignancies. CNV analysis confirmed overlapping recurrent aberrations between T-ALL and T-LBL, including 9p21.3 (CDKN2A/CDKN2B) deletions. A significantly higher frequency of chromosome 13q14.2 deletions was identified in T-LBL samples (36% in T-LBL vs. 0% in T-ALL). This deletion, encompassing the RB1, MIR15A and MIR16-1 gene loci, has been reported as a recurrent deletion in B-cell malignancies. Our study reveals epigenetic and genetic markers that can distinguish between T-LBL and T-ALL, and deepen the understanding of the biology underlying the diverse disease localization.

Original languageEnglish
JournalBlood Cancer Journal
Issue number4
Pages (from-to)45
Publication statusPublished - 28 Apr 2020


  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor/genetics
  • Child
  • Child, Preschool
  • CpG Islands
  • DNA Copy Number Variations
  • DNA Methylation
  • Gene Expression Profiling/methods
  • Humans
  • Infant
  • Middle Aged
  • Phenotype
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/classification
  • Prognosis
  • Young Adult


Dive into the research topics of 'DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma'. Together they form a unique fingerprint.

Cite this