Author/Authors :
Potenza، نويسنده , , Leonardo and Sinigaglia، نويسنده , , Barbara and Luppi، نويسنده , , Mario and Morselli، نويسنده , , Monica and Saviola، نويسنده , , Alessia and Ferrari، نويسنده , , Angela and Riva، نويسنده , , Giovanni and Zucchini، نويسنده , , Patrizia and Giacobbi، نويسنده , , Francesca and Emilia، نويسنده , , Giovanni and Temperani، نويسنده , , Paola and Torelli، نويسنده , , Giuseppe، نويسنده ,
Abstract :
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.
