title: Cytogenetic studies in acute leukemia patients relapsing after allogeneic stem cell transplantation.
abstract: We analyzed karyotype stability in 22 patients with acute leukemia at relapse or disease progression after allogeneic stem cell transplantation (allo-SCT). Karyotypes before and at relapse after allo-SCT were different in 15 patients (68%), the most frequent type being clonal evolution either alone or combined with clonal devolution (13 patients). Patients with and without a karyotype change did not differ significantly in overall survival (OS) (median, 399 vs. 452 days; P = 0.889) and survival after relapse (median, 120 vs. 370 days; P = 0.923). However, acquisition of additional structural chromosome 1 abnormalities at relapse after allo-SCT occurred more frequently than expected and was associated with reduced OS (median, 125 vs. 478 days; P = 0.008) and shorter survival after relapse (median, 37 vs. 370 days; P = 0.002). We identified a previously undescribed clonal evolution involving t(15;17) without PML-RARA rearrangement in an AML patient. We conclude that a karyotype change is common at relapse after allo-SCT in acute leukemia patients. Moreover, our data suggest that additional structural chromosome 1 abnormalities are overrepresented at relapse after allo-SCT in these patients and, in contrast to a karyotype change per se, are associated with reduced OS and shorter survival after relapse.
authors.affiliation: Medical Department III (Hematology, Oncology and Transfusion Medicine), Charité Campus Benjamin Franklin, 12200 Berlin, Germany. martin.schmidt-hieber@charite.de
authors.forename: Martin
authors.initials: M
authors.lastname: Schmidt-Hieber
authors.forename: Igor W
authors.initials: IW
authors.lastname: Blau
authors.forename: Gregor
authors.initials: G
authors.lastname: Richter
authors.forename: Seval
authors.initials: S
authors.lastname: Türkmen
authors.forename: Christiane
authors.initials: C
authors.lastname: Bommer
authors.forename: Gundula
authors.initials: G
authors.lastname: Thiel
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Andrea
authors.initials: A
authors.lastname: Stroux
authors.forename: Lutz
authors.initials: L
authors.lastname: Uharek
authors.forename: Eckhard
authors.initials: E
authors.lastname: Thiel
authors.forename: Olga
authors.initials: O
authors.lastname: Blau
mesh_terms: D000328:Adult; D000368:Aged; D002877:Chromosomes, Human; D002999:Clone Cells / Q000473:pathology; D020732:Cytogenetic Analysis / Q000379:methods; D018450:Disease Progression; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D012008:Recurrence; D033581:Stem Cell Transplantation / Q000379:methods; D014184:Transplantation, Homologous; D055815:Young Adult