title: Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients.
abstract: The cytogenetic findings in acute myeloid leukemia (AML) are a powerful prognostic indicator. Among these abnormalities, the World Health Organization has classified inv(16)(p13q22), which is closely associated with the M4E classification in the French-American-British system, as indicating a good-risk AML. However, this chromosomal abnormality can often be difficult to detect. In this study, we used RT-PCR and FISH analysis to examine 224 Japanese adult de novo AML patients for the presence of the CBFB/MYH11 fusion transcript at the time of diagnosis. The CBFB/MYH11 fusion gene was detected in 17 patients (7.6%): eight patients had the inv(16) chromosome and in all of them it was M4E; nine patients did not have abnormalities in chromosome 16. AML with the CBFB/MYH11 fusion gene but without inv(16) was found in M2, M4, and M5, but not in M4E patients. There were no statistically significant differences in the clinical features of patients with the inv(16) and those with the cryptic inv(16) chromosome. These results indicate that even if eosinophilia is not found, molecular screening for CBFB/MYH11 fusion gene should be performed in all AML patients at the time of diagnosis to help guide disease management.
authors.affiliation: Division of Hematology and Oncology, Mie University School of Medicine, 2-174 Edobashi, Tsu, Mie 514-8507, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Monma
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Nishii
authors.forename: Junko
authors.initials: J
authors.lastname: Shiga
authors.forename: Haruka
authors.initials: H
authors.lastname: Sugahara
authors.forename: Felipe
authors.initials: F
authors.lastname: Lorenzo
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Keiki
authors.initials: K
authors.lastname: Kawakami
authors.forename: Noboru
authors.initials: N
authors.lastname: Hosokai
authors.forename: Shunji
authors.initials: S
authors.lastname: Yamamori
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Katayama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shiku
mesh_terms: D000208:Acute Disease; D000328:Adult; D007446:Chromosome Inversion / Q000235:genetics; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D007564:Japan; D007951:Leukemia, Myeloid / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012334:RNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm