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Additional chromosomal changes impaired chimeric analysis in a patient with relapsed leukemia after bone marrow transplantation

  • HIGUCHI Yumiko
    Department of Laboratory Medicine, Shinshu University Hospital
  • ITO Toshiro
    Second Department of Internal Medicine, Shinshu University School of Medicine
  • MATSUDA Kazuyuki
    Department of Laboratory Medicine, Shinshu University Hospital
  • HIGUCHI Tsukasa
    Department of Pediatrics, Shinshu University School of Medicine
  • HIDAKA Eiko
    Department of Laboratory Medicine, Shinshu University Hospital
  • IMAGAWA Eri
    Department of Laboratory Medicine, Shinshu University Hospital
  • UHARA Miho
    Department of Laboratory Medicine, Shinshu University Hospital
  • NAKAZAWA Hideyuki
    Second Department of Internal Medicine, Shinshu University School of Medicine
  • ISHIDA Fumihiro
    Second Department of Internal Medicine, Shinshu University School of Medicine
  • YAMAUCHI Kazuyoshi
    Department of Laboratory Medicine, Shinshu University Hospital
  • SANO Kenji
    Department of Laboratory Medicine, Shinshu University Hospital
  • KATSUYAMA Tsutomu
    Department of Laboratory Medicine, Shinshu University School of Medicine

Bibliographic Information

Other Title
  • 骨髄移植後のキメリズム解析を不可能にした再発時付加染色体異常
  • 症例報告 骨髄移植後のキメリズム解析を不可能にした再発時付加染色体異常
  • ショウレイ ホウコク コツズイ イショクゴ ノ キメリズム カイセキ オ フカノウ ニ シタ サイハツジ フカ センショクタイ イジョウ

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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 α satellite DNA on chromosome 8.<br>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.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 49 (2), 109-114, 2008

    The Japanese Society of Hematology

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