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Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.

Authors
  • Schnittger, Susanne
  • Bacher, Ulrike
  • Eder, Christiane
  • Dicker, Frank
  • Alpermann, Tamara
  • Grossmann, Vera
  • Kohlmann, Alexander
  • Kern, Wolfgang
  • Haferlach, Claudia
  • Haferlach, Torsten
Type
Published Article
Journal
Haematologica
Publisher
Ferrata Storti Foundation
Publication Date
Oct 01, 2012
Volume
97
Issue
10
Pages
1582–1585
Identifiers
DOI: 10.3324/haematol.2012.064683
PMID: 22511494
Source
Medline
License
Unknown

Abstract

We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. JAK2V617F was detected in the suspected categories as follows: polycythemia vera 88.3%, primary myelofibrosis 53.8%, essential thrombocythemia 50.2%, and not further classifiable myeloproliferative neoplasms 38.0%. JAK2 exon 12 mutations were detected in 40.0% JAK2V617F-negative suspected polycythemia vera, MPLW515 mutations in 13.2%JAK2V617F-negative primary myelofibrosis and 7.1% JAK2V617F-negative essential thrombocythemia. TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%). CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%). This leads to a stepwise workflow for suspected myeloproliferative neoplasms starting with JAK2V617F and investigating JAK2V617F-negative patients for JAK2 exon 12 or MPL mutations, respectively. In cases in which a myeloproliferative neoplasm cannot be established, analysis for TET2, CBL and EZH2 mutations may be indicated.

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