Myeloid sarcoma of the small bowel associated with a CBFβ/MYH11 fusion and inv(16)(p13q22): a case report

M. McKenna, C. Arnold, M. A. Catherwood, M. W. Humphreys, R. J. G. Cuthbert, C. Bueso-Ramos, D. T. McManus*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

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 CBFβ signal, consistent with an underlying inversion of chromosome 16, inv(16)(p13q22). The resultant type A CBFβ/MYH11 transcript was detected by reverse transcriptase PCR. Immunohistochemistry with the AH107 antibody to the CBFβ–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.

Original languageEnglish
Pages (from-to)757-759
Number of pages3
JournalJournal of Clinical Pathology
Volume62
Issue number8
Early online date28 Jul 2009
DOIs
Publication statusPublished - 01 Aug 2009
Externally publishedYes

Keywords

  • Chromosome Inversion
  • Chromosomes, Human, Pair 16/genetics
  • Female
  • Humans
  • Ileal Neoplasms/genetics
  • In Situ Hybridization, Fluorescence/methods
  • Middle Aged
  • Neoplasm Proteins/metabolism
  • Oncogene Proteins, Fusion/metabolism
  • Reverse Transcriptase Polymerase Chain Reaction/methods
  • Sarcoma, Myeloid/genetics

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