Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis

Hematopoietic and lymphoid neoplasms are often characterized by specific cytogenetic and molecular abnormalities that determine diagnosis, prognosis and in some cases guide therapy-related decisions [1]. Conventional chromosome analysis is well suited to detect abnormalities such aneuploidies, large gains and/or losses ( ∼5-10 Mb) and balanced rearrangements observed in individual cells [2]. Fluorescence in situ hybridization (FISH) has a resolution of ∼100kb-1Mb and is considered a highly sensitive and relatively rapid technique that is particularly useful in identifying targeted, disease specific abnormalities that may be unappreciated by conventional chromosome analysis.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research