PMID- 9242213 OWN - NLM STAT- MEDLINE DCOM- 19970818 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 97 IP - 1 DP - 1997 Aug TI - Partial duplication of the MLL gene in acute myelogenous leukemia without karyotypic aberration. PG - 20-4 AB - Partial duplication of the MLL gene is a recently characterized novel genetic mechanism for leukemogenesis. A close association with trisomy 11 has been observed. A case of acute myelogenous leukemia (AML) M6 without karyotypic abnormality was found to have rearrangement of the MLL gene. Southern analysis with an MLL exon 2 probe revealed partial duplication of the MLL gene, with a duplicated MLL transcript amplified by reverse transcription polymerase chain reaction (RT = PCR). The presence of trisomy 11 was excluded by fluorescence in situ hybridization (FISH). Few cases of AML with MLL gene duplication have been reported, and they showed involvement of the M1, M2, and M4 subtypes. This case is the first reported case with an M6 phenotype, and highlights the importance of investigating for MLL gene mutations in all subtypes of AML, as they may carry prognostic significance. FAU - Kwong, Y L AU - Kwong YL AD - University Department of Medicine, Queen Mary Hospital, Hong Kong. LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (DNA-Binding Proteins) RN - 0 (KMT2A protein, human) RN - 0 (Transcription Factors) RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) SB - IM MH - Aged MH - Alternative Splicing MH - Chromosomes, Human, Pair 11/*genetics MH - DNA-Binding Proteins/*genetics MH - Exons MH - Histone-Lysine N-Methyltransferase MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - *Multigene Family MH - Myeloid-Lymphoid Leukemia Protein MH - Polymerase Chain Reaction MH - *Proto-Oncogenes MH - *Transcription Factors EDAT- 1997/08/01 00:00 MHDA- 1997/08/01 00:01 CRDT- 1997/08/01 00:00 PHST- 1997/08/01 00:00 [pubmed] PHST- 1997/08/01 00:01 [medline] PHST- 1997/08/01 00:00 [entrez] AID - S0165460896003330 [pii] AID - 10.1016/s0165-4608(96)00333-0 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 1997 Aug;97(1):20-4. doi: 10.1016/s0165-4608(96)00333-0.