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. © 2004 Elsevier Inc. All rights reserved.
A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia / Potenza, Leonardo; Sinigaglia, Barbara; Luppi, Mario; Morselli, Monica; Saviola, Alessia; Ferrari, Angela; Riva, Giovanni; Zucchini, Patrizia; Giacobbi, Francesca; Emilia, Giovanni; Temperani, Paola; Torelli, Giuseppe. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - STAMPA. - 149:2(2004), pp. 164-168. [10.1016/j.cancergencyto.2003.07.002]
A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia
SINIGAGLIA, BARBARA;
2004
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. © 2004 Elsevier Inc. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
