Detection and monitoring of trisomy 8 by fluorescence in situ hybridization in acute myeloid leukemia: A multicentric study

Antonio Cuneo, Renato Bigoni, Maria Grazia Roberti, Antonella Bardi, Gian Matteo Rigolin, Nadia Piva, Marco Mancini, Mauro Nanni, Giuliana Alimena, Cristina Mecucci, Caterina Matteucci, Roberta La Starza, Paolo Bernasconi, Paola Cavigliano, Emilia Genini, Alfonso Zaccaria, Nicoletta Testoni, Cristina Carboni, Gianluigi Castoldi

Research output: Contribution to journalArticlepeer-review


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 cutoff 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 535% 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 patient, may be promising.

Original languageEnglish
Pages (from-to)21-26
Number of pages6
Issue number1
Publication statusPublished - Jan 1998


  • Acute myeloid leukemia
  • FISH
  • Trisomy 8

ASJC Scopus subject areas

  • Hematology


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