title: ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia.
abstract: Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t(12;21)(p13;q22) translocation. Seven patients (4.4%) were found, with 50-100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t(12;21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases.
authors.affiliation: LRF/UKCCG Karyotype Database in ALL, Department of Haematology, The Royal Free and University College Medical School, London, UK.
authors.forename: M S
authors.initials: MS
authors.lastname: Jabber Al-Obaidi
authors.forename: M
authors.initials: M
authors.lastname: Martineau
authors.forename: C F
authors.initials: CF
authors.lastname: Bennett
authors.forename: I M
authors.initials: IM
authors.lastname: Franklin
authors.forename: A H
authors.initials: AH
authors.lastname: Goldstone
authors.forename: L
authors.initials: L
authors.lastname: Harewood
authors.forename: G R
authors.initials: GR
authors.lastname: Jalali
authors.forename: H G
authors.initials: HG
authors.lastname: Prentice
authors.forename: S M
authors.initials: SM
authors.lastname: Richards
authors.forename: K
authors.initials: K
authors.lastname: Roberts
authors.forename: C J
authors.initials: CJ
authors.lastname: Harrison
mesh_terms: D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D017931:DNA Primers; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein