PMID- 11566351 OWN - NLM STAT- MEDLINE DCOM- 20011004 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 129 IP - 2 DP - 2001 Sep TI - Routine fluorescence in situ hybridization with the MLL probe does not reliably detect two separate signals on one chromosome 11 in patients with trisomy 11. PG - 173-6 AB - Trisomy 11 is considered to be a rare cytogenetic abnormality in myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML). Duplication of the MLL gene (localized to 11q23) has been found on one chromosome 11 in patients with trisomy 11, detected by DNA techniques. We investigated copy number of MLL in seven patients with trisomy 11 to see if duplication could be assessed by the detection of two separate signals on fluorescence in situ hybridization (FISH). If so, FISH could provide a quick easy screen of MLL status in routine referrals. The diagnostic bone marrow aspirate showed trisomy 11 in five adult patients with MDS/AML as part of a complex karyotype and in two children with acute lymphoblastic leukemia (ALL) as part of a hyperdiploid karyotype. Fluorescence in situ hybridization utilized the suspensions remaining after the cytogenetic harvest. Two FISH probes were used on the adult patients (MLL - Oncor and Vysis), and one (Vysis) for the two children with ALL. Analysis showed that the proximity of the two putative hybridization signals made it very difficult to unambiguously see two separate signals. The hybridisations (Oncor probe) were convincing of MLL duplication (namely two distinct signals) in only one patient, but this was not borne out with the other MLL probe (Vysis). We conclude that conventional FISH with MLL probe is not suited to act as a screen for MLL duplication in patients with trisomy 11. FAU - Smith, A AU - Smith A AD - Department of Cytogenetics, Royal Alexandra Hospital for Children, Locked Bag 4001, NSW 2145, Westmead, Australia. ellies@nch.edu.au FAU - Robson, L AU - Robson L FAU - Heaps, L S AU - Heaps LS FAU - Sharma, P AU - Sharma P FAU - Dunlop, L AU - Dunlop L FAU - Bhave, A AU - Bhave A FAU - Bradstock, K AU - Bradstock K LA - eng PT - Clinical Trial 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 (Nucleic Acid Probes) 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 - Adult MH - Aged MH - Aged, 80 and over MH - Child, Preschool MH - Chromosomes, Human, Pair 11/genetics MH - DNA-Binding Proteins/*genetics MH - Histone-Lysine N-Methyltransferase MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Infant MH - Karyotyping MH - Leukemia, Myeloid, Acute/diagnosis/*genetics MH - Myelodysplastic Syndromes/diagnosis/*genetics MH - Myeloid-Lymphoid Leukemia Protein MH - *Nucleic Acid Probes MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/*genetics MH - Predictive Value of Tests MH - *Proto-Oncogenes MH - Sensitivity and Specificity MH - *Transcription Factors MH - Trisomy/diagnosis/*genetics EDAT- 2001/09/22 10:00 MHDA- 2001/10/05 10:01 CRDT- 2001/09/22 10:00 PHST- 2001/09/22 10:00 [pubmed] PHST- 2001/10/05 10:01 [medline] PHST- 2001/09/22 10:00 [entrez] AID - S0165-4608(01)00449-6 [pii] AID - 10.1016/s0165-4608(01)00449-6 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2001 Sep;129(2):173-6. doi: 10.1016/s0165-4608(01)00449-6.