Genetic alterations in chronic lymphocytic leukaemia

Abstract

Chronic lymphocytic leukaemia (CLL), the commonest form of leukaemia in adults in Western countries, is a genetically heterogeneous disease. The most frequent genetic alterations are deletions in 13q14, 17p13 (TP53) and 11q22-q23 (ATM), and trisomy of chromosome 12. Furthermore, additional alterations have been described. The most relevant techniques used for detection of genetic alterations in CLL include comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH). Recently, PCR-based techniques, such as multiplex ligation- dependent probe amplification (MLPA), have been used to detect genetic alterations in CLL. This review summarises the genetic alterations described in CLL and the techniques used for their detection.

Lymphoma‐associated skin cancer: incidence, natural history, and clinical management

“…A deletion in chromosome 17p is seen in 5–10% of patients with CLL . This correlates with the p53 gene; loss or mutation of TP53 is the strongest predictor of poor survival in patients with CLL .…”

“…This correlates with the p53 gene; loss or mutation of TP53 is the strongest predictor of poor survival in patients with CLL . Patients with this mutation have an average survival of 32 months and respond poorly to therapy . It is difficult to predict which factors influence outcome in patients with CLL and MM, but possible genetic associations and the associated underlying immunosuppression are the most likely influential factors.…”

“…29 A deletion in chromosome 17p is seen in 5-10% of patients with CLL. 53 This correlates with the p53 gene; loss or mutation of TP53 is the strongest predictor of poor survival in patients with CLL. 54 Patients with this mutation have an average survival of 32 months and respond poorly to therapy.…”

The tumorigenic potential of pluripotent stem cells: What can we do to minimize it?

“…Several studies have identified chromosome 12 and 20q11 as hot spots for duplication in long-term culture. These two regions have been reported to be duplicated in a small number of tumor types, including chromosome 12 duplications in embryonal carcinoma and chronic lymphocytic leukemia [67][68][69], and skin cancer, colorectal cancer, and chronic lymphocytic leukemia for chromosome 20 [70][71][72]. Although these regions are duplicated in these cancers, it is not believed that they are intrinsically oncogenic on their own.…”

Mouse Models of Chronic Lymphocytic Leukemia

“…Several genetic alterations are found in CLL, including chromosome translocations and gene promoter unmethylation (Coll-Mulet and Gil, 2009;Klein & Dalla-Favera, 2010). Epigenetic changes affecting the expression and function of genes have also been described in CLL (Marton et al, 2008;Plass et al, 2007).…”