General AML,   TP53

AACR 2017: Poster 2451/8 – Novel copy number alterations and the effect of chromothripsis in AML

On Monday 3rd April, at the 107th American Association for Cancer Research (AACR) annual meeting in Washington, DC, USA, there was a poster session focused on the “Genomic Landscape of Lymphoma, Leukemia, and Lung, Bladder, and Other Cancers”.

During this session, Maria C. Fontana from the University of Bologna, Bologna, Italy, and colleagues presented data from their study which aimed to identify new genetic alterations using a novel Single Nucleotide Polymorphism (SNP) array-based genotyping in 235 Acute Myeloid Leukemia (AML) patients at diagnosis. The author also investigated the impact of chromothripsis in 395 AML patients.

 The key results were:
  • Copy Number Alterations (CNAs) occurred across all chromosomes in all patients
  • Genes mapping in aberrant PD-1 signaling, loss of function of SMAD4 and SMAD4 MH2 Domain mutants in cancer were enriched in single copy losses and deletions; P < 0.001
  • Regulation of transcription and nucleic acid, negative regulation of metabolic processes, and constitutive signaling by aberrant PI3K and PI3K/AKT network were deregulated with single copy gain and homozygous amplification; P < 0.001.
  • Chromothripsis patients have a significantly higher incidence of TP53 mutations compared to patients without chromothripsis; P < 0.001
  • Median Overall Survival (OS) in patients with or without chromothripsis; 2.9% vs 19.1 months; P < 0.001

The authors concluded by highlighting that their study “identified novel CNAs and pathways” that can be important for the prognosis of AML patients. Additionally, chromothripsis is a recurrent event in AML and can independently categorize a group of patients with poor prognosis.

  1. Fontana M.C. et al. Genomic wide microarray analysis identifies novel copy number alterations in adult acute myeloid leukemia [Poster]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; 2017. Poster nr [2451/8].
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