NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia.
The molecular basis for disease progression in chronic myeloid leukaemia (CML) is poorly understood, but is believed to be a consequence of additional acquired genetic lesions. We describe here a case of CML who presented de novo in transformation with a t(9;11)(p21;p15) and NUP98-LEDGF fusion in addition to the t(9;22). The t(9;11) was present in only 2/45 (4%) of bone marrow metaphases, but 17/20 (85%) of metaphases from peripheral blood, suggesting an extramedullary or focal origin. This is the first description of NUP98-LEDGF in CML and strengthens the association between disease progression in and NUP98 abnormalities.
Grand
Francis H
FH
Wessex Regional Genetics Laboratory, Salisbury, UK.
Koduru
Prasad
P
Cross
Nicholas C P
NC
Allen
Steven L
SL
D000328:Adult; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis; D018450:Disease Progression; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D014178:Translocation, Genetic
C469926:NUP98-LEDGF fusion protein, human; D015514:Oncogene Proteins, Fusion