title: Clinical aspects of expression of inversion 16 chromosomal fusion transcript CBFB/MYH11 in acute myelogenous leukemia subtype M1 with abnormal bone marrow eosinophilia.
abstract: The pericentric inversion of chromosome 16 (inv(16)(p12q22)) is a characteristic karyotypic abnormality associated with acute myeloid leukemia, most commonly of the M4Eo subtype. It is increasingly appreciated as both a favorable prognostic factor and important guide to therapy. The breakpoints of the inversion have been cloned and a fusion transcript can be identified by RT-PCR. We expand upon our prior abstract of a case of AML subtype M1 with abnormal eosinophils that expressed the inversion 16 fusion transcript CBFB/MYH11. During remission, the transcript could not be detected. The patient relapsed twice during the first year after attaining a complete remission. Morphologically, the relapsed specimens were identical to the appearance of his diagnostic specimen. However, the CBFB/MYH11 fusion transcript was not detected in the relapsed specimen. We conclude that CBFB/MYH11 fusion transcript detection, as a surrogate for the favorable prognosis and treatment planning implied by inv(16) in AML M4Eo, should not be exclusively relied upon in AML M1 in the absence of prospective study of this specific (M1) category of AML. RT-PCR analysis should be correlated with cytogenetics when available and if used alone should be interpreted cautiously in cases of AML with atypical morphological features.
authors.affiliation: Division of Hematology, The National Naval Medical Center, Bethesda, MD 20889-5000, USA.
authors.forename: B P
authors.initials: BP
authors.lastname: Monahan
authors.forename: J T
authors.initials: JT
authors.lastname: Rector
authors.forename: P P
authors.initials: PP
authors.lastname: Liu
authors.forename: J D
authors.initials: JD
authors.lastname: Cotelingam
authors.forename: W
authors.initials: W
authors.lastname: Dahut
mesh_terms: D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D022762:CCAAT-Enhancer-Binding Proteins; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D004802:Eosinophilia / Q000209:etiology*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; D004268:DNA-Binding Proteins; D012333:RNA, Messenger