Abstract
Introduction: Trisomy of chromosome 12 is reported as one of the most common chromosomal aberrations in Chronic Lymphocytic Leukaemia (CLL), and confers an intermediate prognosis with a median overall survival of 114 months [1]. CLL cases with trisomy 12 are unique in their increased expression of integrins (such as CD49d and CD38) compared to other cytogenetic categories [2–4]. Trisomy 12 is also associated with mutations of NOTCH1 and a germline, unmutated configuration of the immunoglobulin heavy chain gene in NOTCH1 mutant cases [5,6].
These associations have however been inferred from analysis of whole populations of peripheral blood mononuclear cells (PBMCs) or CD19 positive B-lymphocytes. It is well established that a single patient’s CLL sample consists of a heterogeneous cell population, with multiple subclones present even at diagnosis, and that the subclonal composition and its evolution over time has a clinical impact [7–9]. We propose to use a novel methodology, combining fluorescence in situ hybridisation with flow cytometric sorting, to enable isolation and comprehensive analysis of the trisomic 12 CLL subclone.
These associations have however been inferred from analysis of whole populations of peripheral blood mononuclear cells (PBMCs) or CD19 positive B-lymphocytes. It is well established that a single patient’s CLL sample consists of a heterogeneous cell population, with multiple subclones present even at diagnosis, and that the subclonal composition and its evolution over time has a clinical impact [7–9]. We propose to use a novel methodology, combining fluorescence in situ hybridisation with flow cytometric sorting, to enable isolation and comprehensive analysis of the trisomic 12 CLL subclone.
Original language | English |
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Article number | Abstract ID: 43 |
Pages (from-to) | 37-38 |
Number of pages | 2 |
Journal | Leukemia and Lymphoma |
Volume | 58 |
Issue number | S1 |
DOIs | |
Publication status | Published - 15 Dec 2017 |
Event | XVII International Workshop on Chronic Lymphocytic Leukemia - New York, United States Duration: 12 May 2017 → 15 May 2017 |
Keywords
- Conference abstract
- Conference poster
- Chronic Lymphocytic Leukaemia (CLL)
- Trisomy 12
- Trisomy of chromosome 12
- increased expression of integrins
- NOTCH1
- mutations of NOTCH1