Development of a dual-color fluorescence in situ hybridization probe set on chromosome 6q to improve cytogenetic diagnosis of lymphoid malignancies

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Deletions in the long arm of chromosome 6 are one of the most commonly observed chromosome aberrations in lymphoid malignancies and have been identified as an adverse prognostic factor in subsets of leukemia and lymphoma. Although large deletions can readily be detected with conventional banding methods, subtle rearrangements represent a major diagnostic challenge. To identify and follow up 6q abnormalities that are difficult to detect with conventional banding analysis, we have developed a dual-color fluorescence in situ hybridization probe set on 6q21 and 6q27. We have also demonstrated its potential for clinical applications. While applying this new probe set to clinical cytogenetic studies, we identified a unique t(6;14) translocation in a patient with acute lymphoid leukemia. Because the translocation breakpoint on chromosome 6 is located within a common deletion region in patients with lymphoid malignancies, the determination of this translocation breakpoint will facilitate the identification of a candidate tumor suppressor gene in 6q.