Abstract

AbstractThe rate of detection of chromosome abnormalities in T-cell proliferations is lower than that observed in B-cell malignancies. The former frequently involve the TCRα/δ locus at chromosome band 14q11. We have identified a YAC encompassing 70% of the TCRα/δ locus, which has been used as a fluorescence in situ hybridization probe to detect chromosome rearrangements involving 14q11, both at metaphase and within interphase nuclei, in patients with a variety of T-lymphoproliferative disorders. Its use allowed detection of previously unsuspected TCRα/δ rearrangements in 4/13 (30%) immature T-lineage acute leukemias, including two t(10; 14) and 2 minor inversion 14s. It also clarified interpretation of complex chromosome 14 abnormalities in mature T-cell proliferations (T-prolymphocytic leukemia and ataxia telangiectasia). Use of this probe will aid the detection and characterization of abnormalities involving the TCRα/δ locus, particularly in cases with normal or complex karyotypes and in those proliferations for which mitoses are difficult to obtain.

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