PMID- 9542319 OWN - NLM STAT- MEDLINE DCOM- 19980513 LR - 20061115 IS - 0390-6078 (Print) IS - 0390-6078 (Linking) VI - 83 IP - 1 DP - 1998 Jan TI - Detection and monitoring of trisomy 8 by fluorescence in situ hybridization in acute myeloid leukemia: a multicentric study. PG - 21-6 AB - BACKGROUND AND OBJECTIVE: The role of fluorescence in situ hybridization (FISH) in the detection and monitoring of trisomy 8 (+8) in acute myelogenous leukemia (AML) has not been defined exactly. This multicentric study was performed in order to: i) analyze the sensitivity of interphase FISH with respect to conventional chromosome analysis (CCA) in detecting +8; ii) compare the results of FISH and CCA in the quantitation of the frequency of +8-positive cells; iii) analyze the possible role of FISH in the cytogenetic follow-up of patients with +8. DESIGN AND METHODS: One hundred and ninety-eight nonconsecutive patients with a diagnosis of AML seen at five centers over a 3-year period were studied by CCA and FISH with a chromosome 8-specific centromeric probe. Two hundred interphase cells were scored in each test and the cut-off for the recognition of +8 was set at 3%. An irrelevant pericentromeric probe was used as negative control in those cases with an apparently normal karyotype and trisomy 8 in interphase cells. FISH studies were conducted at diagnosis and, in 14 cases with +8, on 1.5 occasions during follow-up. RESULTS: Karyotype aberrations were seen in 121 cases (61.1%), with +8 being present in 38 of them (16 as the sole aberration). Interphase FISH detected +8 in 37/38 cases; in a patient with 1/10 metaphases with +8, 2.3% interphase cells with 3 signals were seen. Fourteen additional cases with occult +8 were detected by FISH, which showed 4-22% interphase cells with three signals; 6 patients had an abnormal karyotype without +8, 3 had a normal karyotype, 5 had no analyzable mitoses. In 24 cases with > 15 analyzable metaphases, percent variations between CCA and FISH in the estimation of the size of the trisomic clone ranged between 0.4% and 51%, median value 22%. Underestimation of the percent of trisomy 8 by FISH occurred in all 10 cases with > 90% +8 metaphases. In 7/14 cases investigated sequentially, FISH detected 5-35% trisomic cells in the BM after induction therapy (4 CR, 3 PR); 4 cases relapsed with +8 at 8-15 months. The absence of +8 in remission marrows was documented in the remaining 7 cases, 4 of which relapsed at 20-32 months. INTERPRETATION AND CONCLUSIONS: It is concluded that FISH was a valuable method in this multicentric study since it showed greater sensitivity than CCA in detecting minor clones with +8, in patients with both normal and abnormal karyotypes. The role of FISH in the cytogenetic follow-up of trisomies in AML patients may be promising. FAU - Cuneo, A AU - Cuneo A AD - Institute of Hematology, University of Ferrara, Italy. FAU - Bigoni, R AU - Bigoni R FAU - Roberti, M G AU - Roberti MG FAU - Bardi, A AU - Bardi A FAU - Rigolin, G M AU - Rigolin GM FAU - Piva, N AU - Piva N FAU - Mancini, M AU - Mancini M FAU - Nanni, M AU - Nanni M FAU - Alimena, G AU - Alimena G FAU - Mecucci, C AU - Mecucci C FAU - Matteucci, C AU - Matteucci C FAU - La Starza, R AU - La Starza R FAU - Bernasconi, P AU - Bernasconi P FAU - Cavigliano, P AU - Cavigliano P FAU - Genini, E AU - Genini E FAU - Zaccaria, A AU - Zaccaria A FAU - Testoni, N AU - Testoni N FAU - Carboni, C AU - Carboni C FAU - Castoldi, G AU - Castoldi G LA - eng PT - Clinical Trial PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't PL - Italy TA - Haematologica JT - Haematologica JID - 0417435 SB - IM MH - Acute Disease MH - Aged MH - Aged, 80 and over MH - *Chromosomes, Human, Pair 8 MH - Cloning, Molecular MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid/*genetics MH - Male MH - Middle Aged MH - Remission Induction MH - Trisomy/*diagnosis EDAT- 1998/05/16 00:00 MHDA- 1998/05/16 00:01 CRDT- 1998/05/16 00:00 PHST- 1998/05/16 00:00 [pubmed] PHST- 1998/05/16 00:01 [medline] PHST- 1998/05/16 00:00 [entrez] PST - ppublish SO - Haematologica. 1998 Jan;83(1):21-6.