title: Fluorescence in situ hybridization in combination with morphology detects minimal residual disease in remission and heralds relapse in acute leukaemia.
abstract: Fluorescence in situ hybridization in combination with morphology (MGG/FISH) was used to detect minimal residual disease (MRD) in complete remission (CR) in 12 cases of acute leukaemia (six MDS-AML, five de novo AML, one pre-B ALL) with numerical chromosomal aberrations at diagnosis. Residual leukaemic cells could be detected in the remission bone marrows by MGG/FISH in five patients, whereas the other seven showed no abnormalities. All five patients with signs of MRD at CR relapsed in the bone marrow with 2-9 months, in contrast to two of seven with a normal finding by MGG/FISH at CR. In both these patients a second MGG/FISH analysis showed that a subpopulation of leukaemic blasts had reappeared, 4 and 5 months prior to the leukaemia becoming clinically overt. One patient suffered a CNS relapse, but without any evidence of bone marrow involvement. The remaining four patients with no evidence of MRD at CR were still in haematological remission at follow-up after 4, 11, 12 and 13 months, respectively. We conclude that MGG/FISH seems to be a clinically useful method to detect MRD in acute leukaemia and to predict relapses, particularly when repeat studies are performed during CR.
authors.affiliation: Department of Medicine, Karolinska Institute, Danderyd Hospital, Stockholm, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Bernell
authors.forename: I
authors.initials: I
authors.lastname: Arvidsson
authors.forename: B
authors.initials: B
authors.lastname: Jacobsson
authors.forename: R
authors.initials: R
authors.lastname: Hast
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D008677:Metaphase; D008875:Middle Aged; D018365:Neoplasm, Residual / Q000175:diagnosis*; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000628:therapy; D011379:Prognosis; D012008:Recurrence