PMID- 8207974 OWN - NLM STAT- MEDLINE DCOM- 19940713 LR - 20130304 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 8 IP - 6 DP - 1994 Jun TI - Fluorescence in situ hybridization improves the detection of monosomy 7 in myelodysplastic syndromes. PG - 1012-8 AB - We performed conventional cytogenetic (CC) and interphase fluorescence in situ hybridization (FISH) analysis with an alpha satellite chromosome 7 specific DNA centromeric probe (p alpha 7t1) on bone marrow material prepared for CC in 11 controls and 80 cases of myelodysplastic syndromes (MDS). In controls, a mean of 4.3 +/- 1% of the 700 cells examined showed only one FISH signal for chromosome 7, and the finding of > 6.3% (mean +2 standard deviations) of cells with one FISH signal was considered to indicate the presence of a clone with -7. By CC, clonal -7 was found in 11 patients, whereas two patients had -7 in only one mitose (non-clonal -7). In eight of the 11 cases of clonal -7 by CC, interphase FISH confirmed -7. In the remaining three patients, 5.1%, 6.3% and 18.4% respectively of the cells had one signal. Those three patients had, in addition to -7 by CC, a marker chromosome which was shown to be constituted of chromosome 7 pericentromeric material by FISH analysis on metaphase spreads (metaphase FISH). Of the two patients with non-clonal -7 by CC, one had a -7 clone by interphase FISH whereas the other patient had normal FISH results. Five of the 67 patients with no -7 mitose by CC had clonal -7 by interphase FISH, with one chromosome 7 signal in 14.4 to 39% of the cells examined. At least three mitoses with -7 were found in two of them by metaphase FISH. Three of the five patients were reexamined 12 to 17 months later: CC and metaphase FISH found no -7, whereas interphase FISH still showed a -7 clone. Three of the patients with clonal -7 by CC and by FISH were reexamined in complete hematological remission after intensive therapy. CC found no -7 and interphase FISH was normal in all three patients. Our findings suggest that interphase FISH may improve the detection of -7 in MDS. Conventional cytogenetics should still be performed in parallel to FISH, however, because of possible false negative FISH results when a pericentromeric chromosome 7 marker is present in patients with -7. Larger numbers of cases with minor -7 clones, detectable by FISH only, and longer follow-up in those cases will be necessary to determine the significance of this finding, the evolution of this minor clone, and the outcome of the patients. FAU - Flactif, M AU - Flactif M AD - Laboratoire de Genetique Humaine, Faculte de Medecine, Centre Hospitalier Universitaire, Lille, France. FAU - Lai, J L AU - Lai JL FAU - Preudhomme, C AU - Preudhomme C FAU - Fenaux, P AU - Fenaux P LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Leukemia JT - Leukemia JID - 8704895 SB - IM MH - Bone Marrow/chemistry/ultrastructure MH - *Chromosomes, Human, Pair 7 MH - Follow-Up Studies MH - Humans MH - In Situ Hybridization, Fluorescence MH - *Monosomy MH - Myelodysplastic Syndromes/*genetics/pathology EDAT- 1994/06/01 00:00 MHDA- 1994/06/01 00:01 CRDT- 1994/06/01 00:00 PHST- 1994/06/01 00:00 [pubmed] PHST- 1994/06/01 00:01 [medline] PHST- 1994/06/01 00:00 [entrez] PST - ppublish SO - Leukemia. 1994 Jun;8(6):1012-8.