title: [Additional chromosomal changes in impaired chimeric analysis of a patient with relapsed leukemia after bone marrow transplantation].
abstract: Chimerism analysis by polymerase chain reaction amplification of short tandem repeats (PCR-STR) has become a routine diagnostic procedure for evaluating grafts and assessing the likeliness of original disease recurrence after allogeneic stem cell transplantation. Following a sex-mismatched hematopoietic stem cell transplantation (HSCT), we monitored the clinical course of a 61-year old male AML M6 patient with trisomy 8 using PCR-STR with a TH01 locus on 11p15 and fluorescence in situ hybridization (FISH) analysis specific for alpha satellite DNA on chromosome 8. Ten months after HSCT, FISH analysis showed 24.8% recipient cells, but PCR-STR demonstrated 100% donor type chimerism. Further XY FISH analysis of May-Grünwald-Giemsa-stained bone marrow samples clearly demonstrated relapse of the original disease and G-banding analysis of bone marrow samples at relapse showed that an additional chromosomal abnormality, del(11) (p10), had deleted the PCR-STR detection site in all recipient type cells. As such, clinicians should consider the possibility that unexpected karyotype changes may invalidate PCR-STR analysis findings, especially when conflicting results appear among chimerism analyses.
authors.affiliation: Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Ito
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Higuchi
authors.forename: Eiko
authors.initials: E
authors.lastname: Hidaka
authors.forename: Eri
authors.initials: E
authors.lastname: Imagawa
authors.forename: Miho
authors.initials: M
authors.lastname: Uhara
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Nakazawa
authors.forename: Fumihiro
authors.initials: F
authors.lastname: Ishida
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Yamauchi
authors.forename: Kenji
authors.initials: K
authors.lastname: Sano
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Katsuyama
mesh_terms: D046528:Chimerism; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012008:Recurrence; D014184:Transplantation, Homologous