論文

査読有り 国際誌
2018年2月

Comprehensive genetic analysis of donor cell derived leukemia with KMT2A rearrangement.

Pediatric blood & cancer
  • Rieko Taniguchi
  • ,
  • Hideki Muramatsu
  • ,
  • Yusuke Okuno
  • ,
  • Kyogo Suzuki
  • ,
  • Satoshi Obu
  • ,
  • Masahiro Nakatochi
  • ,
  • Teppei Shimamura
  • ,
  • Yoshiyuki Takahashi
  • ,
  • Yasuo Horikoshi
  • ,
  • Kenichiro Watanabe
  • ,
  • Seiji Kojima

65
2
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/pbc.26823

BACKGROUND: Donor cell leukemia (DCL) occurs after allogeneic hematopoietic stem cell transplantation. Several mechanisms, including occult leukemic/preleukemic subclones in the donor graft and germline predisposition to leukemia, are proposed to be associated with DCL's molecular pathogenesis. We report a comprehensive genetic analysis of a patient with KMT2A-rearranged DCL after allogeneic bone marrow transplantation for refractory cytopenia of childhood. PROCEDURE: We performed a whole-exome sequencing of the recipient's peripheral blood before transplant and the donor's peripheral blood and the recipient's bone marrow at the time of DCL diagnosis. RNA sequencing was also performed to detect fusion genes in DCL blasts. RESULTS: There were no germline mutations that were associated with a predisposition to leukemia in the recipient and donor. Furthermore, there were no detectable somatic alterations except KMT2A-MLLT10 and other related gene fusions in DCL. KMT2A-MLLT10 was not detectable in the donor's bone marrow. CONCLUSION: We propose a novel pattern of the molecular pathogenesis of DCL solely involving a genetic mutation acquired after transplant with no identifiable genetic factor related to the donor and recipient.

リンク情報
DOI
https://doi.org/10.1002/pbc.26823
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28921816