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Blood, 15 December 2000, Vol. 96, No. 13, pp. 4360-4362
BRIEF REPORT
t(3;11) translocation in treatment-related acute myeloid leukemia
fuses MLL with the GMPS (GUANOSINE 5'
MONOPHOSPHATE SYNTHETASE) gene
Linda D. Pegram,
Maureen D. Megonigal,
Beverly J. Lange,
Peter C. Nowell,
Janet D. Rowley,
Eric F. Rappaport, and
Carolyn A. Felix
From the Division of Oncology, Joseph Stokes Jr
Research Institute, The Children's Hospital of Philadelphia; the
Department of Pediatrics and the Department of Pathology and Laboratory
Medicine, University of Pennsylvania School of Medicine, Philadelphia,
PA; and the Department of Medicine, University of Chicago School of
Medicine, Chicago, IL.
The partner gene of MLL was identified in a
patient with treatment-related acute myeloid leukemia in which the
karyotype suggested t(3;11)(q25;q23). Prior therapy included the DNA
topoisomerase II inhibitors, teniposide and doxorubicin. Southern blot
analysis indicated that the MLL gene was involved in the
translocation. cDNA panhandle polymerase chain reaction (PCR) was used,
which does not require partner gene-specific primers, to identify the chimeric transcript. Reverse-transcription of first-strand cDNAs with
oligonucleotides containing known MLL sequence at the 5' ends and random hexamers at the 3' ends generated templates with an
intra-strand loop for PCR. In-frame fusions of either MLL
exon 7 or exon 8 with the GMPS (GUANOSINE
5'-MONOPHOSPHATE SYNTHETASE) gene from chromosome
band 3q24 were detected. The fusion transcript was alternatively
spliced. Guanosine monophosphate synthetase is essential for de novo
purine synthesis. GMPS is the first partner gene of
MLL on chromosome 3q and the first gene of this type in leukemia-associated translocations.
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