Potenza Leonardo, Sinigaglia Barbara, Luppi Mario, Morselli Monica, Saviola Alessia, Ferrari Angela, Riva Giovanni, Zucchini Patrizia, Giacobbi Francesca, Emilia Giovanni, Temperani Paola, Torelli Giuseppe
Section of Hematology, Department of Oncology and Hematology, University of Modena and Reggio Emilia, Modena, Italy.
Cancer Genet Cytogenet. 2004 Mar;149(2):164-8. doi: 10.1016/j.cancergencyto.2003.07.002.
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.
t(11;20)(p15;q11)是一种罕见但反复出现的染色体畸变，在1例真性红细胞增多症、少数几例原发性急性髓细胞白血病（AML）和治疗相关的骨髓增生异常综合征（t-MDS）中有所报道。在t-MDS病例中，这种易位导致了NUP98/TOP1融合转录本的产生。NUP98基因已被认为是治疗相关恶性肿瘤的靶点。然而，尚未发现相互的TOP1/NUP98嵌合体。我们报告了1例原发性AML，按照法国-美国-英国（FAB）分类为M2亚型，其中逆转录酶聚合酶链反应（RT-PCR）揭示了NUP98/TOP1嵌合体，并且首次发现了其相互的TOP1/NUP98。文献回顾显示，在6例伴有t(11;20)的原发性AML病例中，1例显示NUP98基因受累，另1例检测到NUP98/TOP1嵌合体。这种易位似乎经常与FAB M2亚型、较年轻的年龄、白细胞增多症以及不良预后相关；因此，这种易位可能识别出一组具有共同临床特征的非治疗相关AML患者。
