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

A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia.

A t(11;20)(p15;q11) is a rare but recurrent chromosomal aberration, reported in one case of polycythemia vera and a few cases of de novo acute myelocytic leukemia (AML) and therapy-related myelodysplastic syndrome (t-MDS). In t-MDS cases, the translocation resulted in the NUP98/TOP1 fusion transcript. The NUP98 gene has been suggested as the target for therapy-related malignancies. The reciprocal TOP1/NUP98 chimera, however, has not yet been encountered. We report a further case of de novo AML, subtype M2 in the French-American-British (FAB) classification, in which the reverse-transcriptase polymerase chain reaction (RT-PCR) revealed the NUP98/TOP1 chimera and also, for the first time, its reciprocal TOP1/NUP98. The literature review disclosed that, among six cases of de novo AML with t(11;20), the NUP98 gene was shown to be involved in one case and the NUP98/TOP1 chimera was detected in another. The translocation seems to be frequently associated with the FAB M2 subtype, younger age, hyperleukocytosis, and poor prognosis; thus, this translocation may identify a subset of not-therapy-related AML patients with shared clinical features.[1]


  1. A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia. Potenza, L., Sinigaglia, B., Luppi, M., Morselli, M., Saviola, A., Ferrari, A., Riva, G., Zucchini, P., Giacobbi, F., Emilia, G., Temperani, P., Torelli, G. Cancer Genet. Cytogenet. (2004) [Pubmed]
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