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.

A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia / Potenza, Leonardo; B., Sinigaglia; Luppi, Mario; M., Morselli; A., Saviola; A., Ferrari; Riva, Giovanni; Zucchini, Patrizia; F., Giacobbi; G., Emilia; Temperani, Paola; Torelli, Giuseppe. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - STAMPA. - 149:(2004), pp. 164-168.

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

POTENZA, Leonardo;LUPPI, Mario;RIVA, Giovanni;ZUCCHINI, Patrizia;TEMPERANI, Paola;TORELLI, Giuseppe
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.
149
164
168
A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia / Potenza, Leonardo; B., Sinigaglia; Luppi, Mario; M., Morselli; A., Saviola; A., Ferrari; Riva, Giovanni; Zucchini, Patrizia; F., Giacobbi; G., Emilia; Temperani, Paola; Torelli, Giuseppe. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - STAMPA. - 149:(2004), pp. 164-168.
Potenza, Leonardo; B., Sinigaglia; Luppi, Mario; M., Morselli; A., Saviola; A., Ferrari; Riva, Giovanni; Zucchini, Patrizia; F., Giacobbi; G., Emilia; Temperani, Paola; Torelli, Giuseppe
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/306175
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