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A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBFβ-MYH11 transcript variant

Lookup NU author(s): Dr Lisa Turnbull

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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 CBFβ-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.

Publication metadata

Author(s): Rowe D, Strain L, Lowe C, Jones G

Publication type: Article

Publication status: Published

Journal: Haematologica

Year: 2007

Volume: 92

Issue: 10

Pages: 1433-1434

ISSN (print): 0390-6078

ISSN (electronic): 1592-8721

Publisher: Fondazione Ferrata Storti

URL: http://dx.doi.org/10.3324/haematol.11536

DOI: 10.3324/haematol.11536

PubMed id: 18024381

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