Cytogenetic methods in chronic lymphocytic leukemia

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BlankCytogenetic methods in chronic lymphocytic leukemia.

C Haferlach and U Bacher

Methods Mol Biol, January 1, 2011; 730: 119-30.

MLL Munich Leukemia Laboratory, Munich, Germany,

.haferlach@....

In chronic lymphocytic leukemia of the B-lineage (B-CLL), cytogenetic

alterations are highly relevant for prognosis and therapeutic decisions. With

conventional techniques, chromosome banding analysis in CLL has been hampered by

the low quality of metaphases and low rates of cytogenetic alterations due to a

low in vitro proliferation rate of CLL cells. Thus, interphase fluorescence in

situ hybridization (FISH) has become the standard technique for cytogenetic

analysis in CLL. However, interphase FISH is not able to provide an overview on

the whole karyotype. In order to improve chromosome banding analysis in CLL,

specific stimulation techniques have been developed. These either use CD40

ligand or oligonucleotides (e.g., CpG) and IL-2 in combination. With the

respective techniques, metaphase cultivation is successful in >90% of CLL cases

and aberrant karyotypes can be detected in nearly 90% of CLL cases. This has

allowed the detection of new clinically relevant subgroups (e.g., complex

aberrant karyotype cases) and a more differentiated picture of distinct

cytogenetic subtypes, e.g., cases with a 13q deletion. Efforts should continue

to define the value of chromosomal banding in CLL focusing as well on the

interaction with already established techniques such as interphase FISH or

immunophenotyping.

PMID: 21431638