All content on this site is intended for healthcare professionals only. By acknowledging this message and accessing the information on this website you are confirming that you are a Healthcare Professional. If you are a patient or carer, please visit Know AML.
The aml Hub website uses a third-party service provided by Google that dynamically translates web content. Translations are machine generated, so may not be an exact or complete translation, and the aml Hub cannot guarantee the accuracy of translated content. The aml and its employees will not be liable for any direct, indirect, or consequential damages (even if foreseeable) resulting from use of the Google Translate feature. For further support with Google Translate, visit Google Translate Help.
The AML Hub is an independent medical education platform, sponsored by Astellas, Daiichi Sankyo, Johnson & Johnson, Kura Oncology and Syndax, and has been supported through educational grants from Bristol Myers Squibb and the Hippocrate Conference Institute, an association of the Servier Group. The funders are allowed no direct influence on our content. The levels of sponsorship listed are reflective of the amount of funding given. View funders.
Now you can support HCPs in making informed decisions for their patients
Your contribution helps us continuously deliver expertly curated content to HCPs worldwide. You will also have the opportunity to make a content suggestion for consideration and receive updates on the impact contributions are making to our content.
Find out more
Create an account and access these new features:
Bookmark content to read later
Select your specific areas of interest
View AML content recommended for you
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.
References