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.
Potenza
Leonardo
L
Section of Hematology, Department of Oncology and Hematology, University of Modena and Reggio Emilia, Modena, Italy.
Sinigaglia
Barbara
B
Luppi
Mario
M
Morselli
Monica
M
Saviola
Alessia
A
Ferrari
Angela
A
Riva
Giovanni
G
Zucchini
Patrizia
P
Giacobbi
Francesca
F
Emilia
Giovanni
G
Temperani
Paola
P
Torelli
Giuseppe
G
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis; D004264:DNA Topoisomerases, Type I / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000145:classification / Q000235:genetics*; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D014178:Translocation, Genetic
D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human; D004264:DNA Topoisomerases, Type I