title: Deletion of CBFB in a patient with acute myelomonocytic leukemia (AML M4Eo) and inversion 16.
abstract: Acute myelomonocytic leukemia with bone marrow eosinophilia (AML M4Eo) is a subtype of AML with distinct morphological features. Inversion (16)(p13.1q22), t(16;16)(p13.1;q22), and del(16)(q22) are nonrandom abnormalities associated with AML M4Eo and a favorable prognosis, compared with the standard risk group for AML. Deletions of the proximal region of the MYH11 gene located at 16p13.1 have been detected in about 20% of patients with inv(16), with an undetermined effect on patient survival. We present the case of a patient with AML M4Eo and inversion 16 with a distal deletion of the CBFB gene at 16q22 detected with fluorescence in situ hybridization. To our knowledge, only one previous report of a similar deletion has appeared in the literature.
authors.affiliation: Department of Haematology, Royal Perth Hospital, GPO Box X2213, Perth WA 6001, Australia. nicole.egan@health.wa.gov.au
authors.forename: Nicole
authors.initials: N
authors.lastname: Egan
authors.forename: John
authors.initials: J
authors.lastname: O'Reilly
authors.forename: Lucia
authors.initials: L
authors.lastname: Chipper
authors.forename: Melinda
authors.initials: M
authors.lastname: Higgins
authors.forename: Richard
authors.initials: R
authors.lastname: Herrmann
authors.forename: Paul
authors.initials: P
authors.lastname: Cannell
mesh_terms: D000293:Adolescent; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D002999:Clone Cells; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male