iAMP21を示唆する小児急性リンパ性白血病の1例

森永 信吾; 横山 智美; 山下 貴大; 今屋 雅之; 興梠 健作; 阿南 正; 河北 敏郎; 原田 奈穂子; 日高 道弘; 高木 一孝

doi:10.11412/jspho.59.30

Case Report

A case of childhood acute lymphoblastic leukemia suggesting intrachromosomal amplification of chromosome 21 (iAMP21)

Shingo Morinaga, Satomi Yokoyama, Takahiro Yamashita, Masayuki Imaya, Kensaku Kohrogi, Tadashi Anan, Toshiro Kawakita, Naoko Harada, Michihiro Hidaka, Kazutaka Takaki

Author information

Shingo Morinaga
Department of Pediatrics, National Hospital Organization, Kumamoto Medical Center
Present: Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences
Satomi Yokoyama
Department of Pediatrics, National Hospital Organization, Kumamoto Medical Center
Present: Department of Pediatrics, Japanese Red Cross Kumamoto Hospital
Takahiro Yamashita
Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences
Masayuki Imaya
Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences
Kensaku Kohrogi
Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences
Tadashi Anan
Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences
Toshiro Kawakita
Department of Hematology, National Hospital Organization, Kumamoto Medical Center
Naoko Harada
Department of Hematology, National Hospital Organization, Kumamoto Medical Center
Michihiro Hidaka
Department of Hematology, National Hospital Organization, Kumamoto Medical Center
Kazutaka Takaki
Department of Pediatrics, National Hospital Organization, Kumamoto Medical Center

Keywords: intrachromosomal amplification of chromosome 21 (iAMP21), suggesting, childhood acute lymphoblastic leukemia

JOURNAL FREE ACCESS

2022 Volume 59 Issue 1 Pages 30-34

DOI https://doi.org/10.11412/jspho.59.30

Details

Abstract

Our case was relapsed acute lymphoblastic leukemia (ALL) with four copies of chromosome 21 each of which had the three signals of RUNX1 amplified by two copies (a total of seven signals of RUNX1 per cell). The finding of three or more extra copies of RUNX1 on a single chromosome 21 (a total of five or more RUNX1 signals per cell) is currently used as the international definition of iAMP21. The ALL in our patient was not identified on the basis of this definition but on the basis of the finding of seven copies of RUNX1 that would have a mechanism indicative of iAMP21.

Corresponding author

Register with J-STAGE for free!