title: Use of dual-color interphase FISH for the detection of inv(16) in acute myeloid leukemia at diagnosis, relapse and during follow-up: a study of 23 patients.
abstract: The value of dual-color fluorescence in situ hybridization (FISH) for the detection of inv(16), using two contigs of cosmid probes mapping on both sides of the chromosome 16p breakpoint region, was evaluated in 23 acute myeloid leukemias (AML) in different phases of the disease. At diagnosis interphase FISH detected inv(16) in 19/19 (100%) cases with conventional cytogenetics (CC) evident aberration and excluded the rearrangement in two patients with CC suspected inv(16). Moreover, it also identified an associated del(16p) in two patients. At relapse, it revealed the inv(16) in 8/8 (100%) studied cases. These results were concordant with those of reverse transcriptase-polymerase chain reaction (RT-PCR). From 13 patients who obtained at least one complete remission (CR), 31 follow-up samples were analyzed using interphase FISH. Twenty-nine specimens scored negative for inv(16) and two were positive. RT-PCR detected CBFbeta/MYH11 transcripts in four of the nine CR samples analyzed, being more sensitive than interphase FISH. Eight of the 13 patients relapsed at a median time of 6.5 months (range 1-15) from the last negative FISH analysis. Of the two patients with positive FISH in CR, one relapsed soon after. At diagnosis and relapse, interphase-FISH proved to be an effective technique for detecting inv(16) appearing more sensitive than CC. Prospective studies with more frequent controls and possibly additional FISH probes are needed to assess the value of interphase FISH for minimal residual disease (MRD) and relapse prediction.
authors.affiliation: Department of Cellular Biotechnology and Hematology, University La Sapienza, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mancini
authors.forename: M
authors.initials: M
authors.lastname: Cedrone
authors.forename: D
authors.initials: D
authors.lastname: Diverio
authors.forename: B
authors.initials: B
authors.lastname: Emanuel
authors.forename: M
authors.initials: M
authors.lastname: Stul
authors.forename: H
authors.initials: H
authors.lastname: Vranckx
authors.forename: M
authors.initials: M
authors.lastname: Brama
authors.forename: M R
authors.initials: MR
authors.lastname: De Cuia
authors.forename: M
authors.initials: M
authors.lastname: Nanni
authors.forename: F
authors.initials: F
authors.lastname: Fazi
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
authors.forename: G
authors.initials: G
authors.lastname: Alimena
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics / Q000648:ultrastructure*; D003360:Cosmids / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction