Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formula

Array-based comparative genomic hybridization (aCGH) has proven indispensable to the study of unbalanced constitutional and acquired chromosomal anomalies, but its sensitivity for detecting mosaicism is still not well established. On the basis of the ADM2 algorithm used for microarray image analysis...

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Bibliographic Details
Published in:Cancer genetics 2011-04, Vol.204 (4), p.216-218
Main Authors: Valli, Roberto, Maserati, Emanuela, Marletta, Cristina, Pressato, Barbara, Lo Curto, Francesco, Pasquali, Francesco
Format: Article
Language:English
Subjects:
Algorithms
Comparative Genomic Hybridization - methods
Hematologic Neoplasms - genetics
Hematology, Oncology and Palliative Medicine
Humans
In Situ Hybridization, Fluorescence
Medical Education
Microarray Analysis
Mosaicism
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Summary:Array-based comparative genomic hybridization (aCGH) has proven indispensable to the study of unbalanced constitutional and acquired chromosomal anomalies, but its sensitivity for detecting mosaicism is still not well established. On the basis of the ADM2 algorithm used for microarray image analysis with one of the most widely used oligomer-based aCGH platforms [the whole genome 244K system by Agilent Technologies (Santa Clara, CA)] we suggest a formula to infer the percentage of cells bearing a chromosome imbalance in cases with constitutional or acquired mosaicism. Three examples of acquired mosaicism in which this formula was applied are reported together with parallel fluorescence in situ hybridization (FISH) to interphase nuclei with informative probes. Although some approximation affects both the results inferred from aCGH and FISH data, the proposed formula was successful in the three patients studied.
ISSN:2210-7762
DOI:10.1016/j.cancergen.2011.02.002