[Additional chromosomal changes in impaired chimeric analysis of a patient with relapsed leukemia after bone marrow transplantation].
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.
Higuchi
Yumiko
Y
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
Ito
Toshiro
T
Matsuda
Kazuyuki
K
Higuchi
Tsukasa
T
Hidaka
Eiko
E
Imagawa
Eri
E
Uhara
Miho
M
Nakazawa
Hideyuki
H
Ishida
Fumihiro
F
Yamauchi
Kazuyoshi
K
Sano
Kenji
K
Katsuyama
Tsutomu
T
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