t(3;11)(q25;q23) in treatment-related acute myeloid leukemia fuses MLL gene with GMPS (Guanosine 5′-monophosphate synthetase)

Division of Oncology, Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Pennsylvania 19104-4318, USA.
Blood (Impact Factor: 10.45). 01/2001; 96(13):4360-2.
Source: PubMed

ABSTRACT 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. (Blood. 2000;96:4360-4362)

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    • "Translocation of BCL9 has been reported with 14q32 [35] and the gene was amplified in both endometrioid and serous tumors. Translocations for GMPS, ZNF384, and SS18L1 were also found in leukemia and synovial sarcomas [36-40] and all were amplified in serous tumors. "
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