title: A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBF beta-MYH11 transcript variant.
abstract: We present a case of acute myeloid leukemia (AML) with a cytogenetically typical inv(16)(p13q22), M4 morphology and eosinophilia. However, studies revealed a CBF beta-MYH11 fusion transcript which did not correspond to any of the 10 known variants. Subsequent sequencing revealed a new in-frame transcript variant resulting from a novel MYH11 exon 32 breakpoint and a seven base insertion at the fusion point. The patient remains in complete remission following standard protocols. Prognostic implications cannot, therefore, be evaluated.
authors.forename: David
authors.initials: D
authors.lastname: Rowe
authors.forename: Lisa
authors.initials: L
authors.lastname: Strain
authors.forename: Chris
authors.initials: C
authors.lastname: Lowe
authors.forename: Gail
authors.initials: G
authors.lastname: Jones
mesh_terms: D001483:Base Sequence; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion