Haematologica (Dec 2012)

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases

  • Susanne Schnittger,
  • Ulrike Bacher,
  • Tamara Alpermann,
  • Andreas Reiter,
  • Madlen Ulke,
  • Frank Dicker,
  • Christiane Eder,
  • Alexander Kohlmann,
  • Vera Grossmann,
  • Andreas Kowarsch,
  • Wolfgang Kern,
  • Claudia Haferlach,
  • Torsten Haferlach

DOI
https://doi.org/10.3324/haematol.2012.065375
Journal volume & issue
Vol. 97, no. 12

Abstract

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We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBLmut) in exons 8 and 9 and performed correlations to other genetic alterations. CBLmut were detected in 63 of 636 (9.9%) of these selected patients. CBLmut were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P