title: Myeloid sarcoma of the small bowel associated with a CBFbeta/MYH11 fusion and inv(16)(p13q22): a case report.
abstract: This report describes a case of aleukaemic myeloid sarcoma of the small intestine in a 50-year-old woman presenting with small bowel obstruction. Fluorescence in situ hybridisation analysis of interphase nuclei revealed a split CBFbeta signal, consistent with an underlying inversion of chromosome 16, inv(16)(p13q22). The resultant type A CBFbeta/MYH11 transcript was detected by reverse transcriptase PCR. Immunohistochemistry with the AH107 antibody to the CBFbeta-SMMHC chimeric protein showed strong nuclear staining of the tumour cell nuclei. This represents the first use of this antibody in the diagnosis of this subtype of myeloid sarcoma in the small intestine.
authors.affiliation: Histopathology, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast BT9 7AD, UK.
authors.forename: M
authors.initials: M
authors.lastname: McKenna
authors.forename: C
authors.initials: C
authors.lastname: Arnold
authors.forename: M A
authors.initials: MA
authors.lastname: Catherwood
authors.forename: M W
authors.initials: MW
authors.lastname: Humphreys
authors.forename: R J G
authors.initials: RJ
authors.lastname: Cuthbert
authors.forename: C
authors.initials: C
authors.lastname: Bueso-Ramos
authors.forename: D T
authors.initials: DT
authors.lastname: McManus
mesh_terms: D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D006801:Humans; D007078:Ileal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D023981:Sarcoma, Myeloid / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion