Sex chromosome changes after sex-mismatched allogeneic bone marrow transplantation can mislead the chimerism analysis.
A 12-year-old male with pre-B-cell acute lymphoblastic leukemia with cryptic BCR/ABL rearrangement underwent sex-mismatched allogeneic bone marrow transplantation (allo-BMT). Contradictory results were provided by various chimerism analyses 3 months later. Y-chromosome-specific quantitative polymerase chain reaction and sex chromosome-specific interphase fluorescence in situ hybridization (i-FISH) showed complete donor chimerism. Analysis of autosomal short tandem repeats (A-STR), BCR/ABL i-FISH test, and X-STR haplotype indicated relapse. Metaphase-FISH and combined BCR/ABL and sex chromosome-specific i-FISH patterns revealed loss of the Y-chromosome and duplication of the X-chromosome in the host cells. Sex chromosome changes after allo-BMT can cause significant difficulties in chimerism analysis.
Department of Pathology, Faculty of Medicine, University of Pécs, Pécs, Hungary. donat.alpar@kk.pte.hu
Donát
D
Alpár
Gergely
G
Nagy
Carsten
C
Hohoff
Béla
B
Kajtár
Katalin
K
Bartyik
Judit
J
Hermesz
Pál
P
Jáksó
Hajnalka
H
Andrikovics
László
L
Kereskai
László
L
Pajor
D016026:Bone Marrow Transplantation; D002648:Child; D002678:Chimera; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016133:Polymerase Chain Reaction; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D012732:Sex Determination Analysis; D020080:Tandem Repeat Sequences / Q000235:genetics; D014184:Transplantation, Homologous; D016896:Treatment Outcome
D016044:Fusion Proteins, bcr-abl