Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

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BlankEvaluation of chronic lymphocytic leukemia by BAC-based microarray

analysis.

RA Schultz, M Delioukina, K Gaal, V Bedell, DD , SJ Forman, L Mc, BC

Ballif, LG Shaffer, and ML Slovak

Mol Cytogenet, February 3, 2011; 4(1): 4.

ABSTRACT: BACKGROUND: Chronic lymphocytic leukemia (CLL) is a highly variable

disease with life expectancies ranging from months to decades. Cytogenetic

findings play an integral role in defining the prognostic significance and

treatment for individual patients.

RESULTS: We have evaluated 25 clinical cases from a tertiary cancer center that

have an established diagnosis of CLL and for which there was prior cytogenetic

and/or fluorescence in situ hybridization (FISH) data. We performed

microarray-based comparative genomic hybridization (aCGH) using a bacterial

artificial chromosome (BAC)-based microarray designed for the detection of known

constitutional genetic syndromes. In 15 of the 25 cases, aCGH detected all copy

number imbalances identified by prior cytogenetic and/or FISH studies. For the

majority of those not detected, the aberrations were present at low levels of

mosaicism. Furthermore, for 15 of the 25 cases, additional abnormalities were

detected. Four of those cases had deletions that mapped to intervals implicated

in inherited predisposition to CLL. For most cases, aCGH was able to detect

abnormalities present in as few as 10% of cells. Although changes in ploidy are

not easily discernable by aCGH, results for two cases illustrate the detection

of additional copy gains and losses present within a mosaic tetraploid cell

population.

CONCLUSIONS: Our results illustrate the successful evaluation of CLL using a

microarray optimized for the interrogation of inherited disorders and the

identification of alterations with possible relevance to CLL susceptibility.

PMID: 21291569