PMID- 21291569 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20110714 LR - 20211020 IS - 1755-8166 (Electronic) IS - 1755-8166 (Linking) VI - 4 IP - 1 DP - 2011 Feb 3 TI - Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis. PG - 4 LID - 10.1186/1755-8166-4-4 [doi] AB - 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. FAU - Schultz, Roger A AU - Schultz RA AD - Signature Genomics, 2820 N, Astor St,, Spokane, WA, 99207, USA. lisa.shaffer@perkinelmer.com. FAU - Delioukina, Maria AU - Delioukina M FAU - Gaal, Karl AU - Gaal K FAU - Bedell, Victoria AU - Bedell V FAU - Smith, David D AU - Smith DD FAU - Forman, Stephen J AU - Forman SJ FAU - McDaniel, Lisa D AU - McDaniel LD FAU - Ballif, Blake C AU - Ballif BC FAU - Shaffer, Lisa G AU - Shaffer LG FAU - Slovak, Marilyn L AU - Slovak ML LA - eng PT - Journal Article DEP - 20110203 PL - England TA - Mol Cytogenet JT - Molecular cytogenetics JID - 101317942 PMC - PMC3045370 EDAT- 2011/02/05 06:00 MHDA- 2011/02/05 06:01 PMCR- 2011/02/03 CRDT- 2011/02/05 06:00 PHST- 2010/11/12 00:00 [received] PHST- 2011/02/03 00:00 [accepted] PHST- 2011/02/05 06:00 [entrez] PHST- 2011/02/05 06:00 [pubmed] PHST- 2011/02/05 06:01 [medline] PHST- 2011/02/03 00:00 [pmc-release] AID - 1755-8166-4-4 [pii] AID - 10.1186/1755-8166-4-4 [doi] PST - epublish SO - Mol Cytogenet. 2011 Feb 3;4(1):4. doi: 10.1186/1755-8166-4-4.