A complex t(1;22;11)(q44;q13;q23) translocation causing MLL-p300 fusion gene in therapy-related acute myeloid leukemia.
The p300 protein shows a striking homology with cyclic-AMP-response-element-binding-protein binding protein (CBP) and both proteins form a family of DNA-binding transcriptional coactivators/histone acetyltransferases. The authors, herein, report a therapy-related acute myeloid leukemia with MLL-p300 fusion gene. Spectral karyotyping clarified that chromosome 11 is involved in complex t(1;22;11)(q44;q13;q23), and is fused to the chromosome 22, and direct sequencing revealed the fusion of exon 8 of MLL and exon 15 of p300 in this case. This is only the second reported case of leukemia with an MLL-p300 fusion gene, and the other case with MLL-p300 was also a therapy-related leukemia. Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested.
Ohnishi
Hiroaki
H
Department of Laboratory Medicine, Kyorin University, Mitaka, Tokyo, Japan. onishi@ks.kyorin-u.ac.jp
Taki
Tomohiko
T
Yoshino
Hiroshi
H
Takita
Junko
J
Ida
Kohmei
K
Ishii
Masami
M
Nishida
Kazuhiro
K
Hayashi
Yasuhide
Y
Taniwaki
Masafumi
M
Bessho
Fumio
F
Watanabe
Takashi
T
D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced* / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000139:chemically induced* / Q000235:genetics* / Q000473:pathology; D009447:Neuroblastoma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic; D050880:p300-CBP Transcription Factors / Q000235:genetics*
C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D050880:p300-CBP Transcription Factors