PMID- 12472570 OWN - NLM STAT- MEDLINE DCOM- 20030123 LR - 20191210 IS - 0007-1048 (Print) IS - 0007-1048 (Linking) VI - 119 IP - 4 DP - 2002 Dec TI - A study on 289 consecutive Korean patients with acute leukaemias revealed fluorescence in situ hybridization detects the MLL translocation without cytogenetic evidence both initially and during follow-up. PG - 930-9 AB - Translocations involving the MLL gene on the chromosome 11 (11q23) are frequently observed in acute leukaemia. The detection of this genetic change has a unique significance as a result of its implication of poor prognosis. To reveal the utility of fluorescence in situ hybridization (FISH) in detecting the MLL translocation, we analysed 289 consecutive Korean patients (children and adults) with acute leukaemias using both conventional cytogenetic analysis (CC) and FISH, placing an emphasis on the result discrepancies. Twenty-two of 289 patients (7.6%) had the 11q23/MLL translocation. In nine of 22 patients (41%), only FISH detected the translocation. In eight of these 22 patients, a total of 19 follow-up examinations were performed, of which FISH detected a significant level of leukaemic cells harbouring the MLL translocation in five patients (26%) without cytogenetic evidence. In addition to the MLL translocation, FISH detected submicroscopic amplification, partial deletion of the MLL gene and trisomy 11 in 12 patients without cytogenetic evidence. In summary, up to 41% of the MLL translocations at initial work-up and 26% during follow-up were detected by FISH without cytogenetic evidence. Thus, we recommend that MLL FISH should be performed in the diagnosis and monitoring of acute leukaemias in combination with CC. FAU - Kim, Hee Jin AU - Kim HJ AD - Department of Clinical Pathology, Department of Internal Medicine, and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. FAU - Cho, Han Ik AU - Cho HI FAU - Kim, Eui Chong AU - Kim EC FAU - Ko, Eun Kyong AU - Ko EK FAU - See, Cha Ja AU - See CJ FAU - Park, Seon Yang AU - Park SY FAU - Lee, Dong Soon AU - Lee DS LA - eng PT - Evaluation Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (Biomarkers, Tumor) RN - 0 (DNA-Binding Proteins) RN - 0 (KMT2A protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Transcription Factors) RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) SB - IM CIN - Br J Haematol. 2003 Jun;121(6):953-5. PMID: 12786810 MH - Acute Disease MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Biomarkers, Tumor/*genetics MH - Child MH - Child, Preschool MH - Chromosomes, Human, Pair 11/*genetics MH - DNA-Binding Proteins/*genetics MH - Female MH - Follow-Up Studies MH - Histone-Lysine N-Methyltransferase MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Karyotyping MH - Leukemia/diagnosis/*genetics MH - Male MH - Middle Aged MH - Myeloid-Lymphoid Leukemia Protein MH - Neoplasm Proteins/genetics MH - *Proto-Oncogenes MH - *Transcription Factors MH - *Translocation, Genetic EDAT- 2002/12/11 04:00 MHDA- 2003/01/24 04:00 CRDT- 2002/12/11 04:00 PHST- 2002/12/11 04:00 [pubmed] PHST- 2003/01/24 04:00 [medline] PHST- 2002/12/11 04:00 [entrez] AID - 3937 [pii] AID - 10.1046/j.1365-2141.2002.03937.x [doi] PST - ppublish SO - Br J Haematol. 2002 Dec;119(4):930-9. doi: 10.1046/j.1365-2141.2002.03937.x.