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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

T-cell prolymphocytic leukemia with der(11)t(1;11)(q21;q23) and ATM deficiency.

T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell malignancy and is similar to a mature T-cell leukemia seen in some patients with ataxia telangiectasia, which is a recessive hereditary chromosomal instability syndrome caused by mutations of the ataxia telangiectasia mutated (ATM) gene located on 11q23. Intriguingly, recent studies have strongly implicated ATM in the pathogenesis of T-PLL as a tumor suppressor gene, because biallelic inactivation of ATM is frequently observed in this disease; however, translocations involving 11q23 have rarely been reported in T-PLL. We report here a case of T-PLL with der(11)t(1;11)(q21;q23). Southern blot analysis did not reveal any abnormality of ATM, nor of MLL, which is also located on 11q23 and is involved in t(1;11)(q21;q23) in acute myelomonocytic leukemia. Northern blot analysis further showed that the ATM transcript of normal size is expressed in the leukemic cells at a level higher than that in normal peripheral blood lymphocytes. Western blot analysis, however, revealed that expression of ATM in the leukemic cells is much lower than that in normal lymphocytes. These results imply that translation of the ATM transcript is impaired or that the ATM protein is highly unstable in the leukemic cells, thus suggesting the presence of nucleotide changes in both alleles.[1]


  1. T-cell prolymphocytic leukemia with der(11)t(1;11)(q21;q23) and ATM deficiency. Yamaguchi, M., Yamamoto, K., Miki, T., Mizutani, S., Miura, O. Cancer Genet. Cytogenet. (2003) [Pubmed]
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