Premium
Rearrangement of the MOZ gene in pediatric therapy‐related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)
Author(s) -
Imamura Toshihiko,
Kakazu Naoki,
Hibi Shigeyoshi,
Morimoto Akira,
Fukushima Yoko,
Ijuin Ikuko,
Hada Satoshi,
Kitabayashi Issei,
Abe Tatsuo,
Imashuku Shinsaku
Publication year - 2003
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.10172
Subject(s) - chromosomal translocation , fluorescence in situ hybridization , chromosomal rearrangement , biology , gene , histone , acute myeloblastic leukemia , microbiology and biotechnology , cancer research , chromosome , karyotype , histone h3 , genetics , leukemia
In this study, we examined a pediatric case of therapy‐related myelodysplastic syndrome (tMDS). The symptoms developed 17 months after treatment for acute myeloblastic leukemia (AML, M2 subtype according to the French–American–British [FAB] classification) involving a chromosome abnormality at t(8;21)(q22;q22). Upon diagnosis of tMDS, spectral karyotyping analysis detected a new chromosomal translocation at t(2;8)(p23;p11.2). In addition, fluorescence in situ hybridization analysis suggested a rearrangement in the monocytic leukemia zinc finger ( MOZ ) gene, located in the 8p11 region of chromosome 8. However, no partner gene on 2p23 could be identified. To our knowledge, this is the first report of tMDS associated with a rearrangement of the MOZ gene. MOZ‐linked fusion proteins such as MOZ‐CBP (CREB binding protein), MOZ‐TIF2 (transcriptional intermediary factor 2), and MOZ‐p300 (adenoviral E1A‐associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. Through a similar mechanism, we believe that MOZ , fused to an unidentified partner gene at 2p23, may have caused an alteration in histone acetylation, resulting in the development of tMDS in this patient. © 2003 Wiley‐Liss, Inc.