Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation

Emanuele Ammatuna, Tiziana Ottone, Serena Zaza, Serena Lavorgna, Rosa Grillo, Paola Curzi, Paola Panetta, Giorgio Federici, Sergio Amadori, Francesco Lo-Coco

Research output: Contribution to journalArticle

Abstract

Detection of genetic markers improves diagnostic refinement of chronic myeloproliferative disorders (CMDs) and is helpful in discriminating reactive conditions mimicking CMDs such as reactive erythrocytosis and thrombocytosis. We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. The test was used in the diagnostic work-up of 50 patients with elevation of ≤2 myeloid cell types in their blood count at presentation and in 42 patients with isolated, non-reactive thrombocytosis. This approach refined diagnosis in 44 of 50 cases in the first series and in 22 of 42 cases with isolated thrombocytosis. We conclude that this non-isotopic and rapid assay amenable to automation may be adopted in routine genetic diagnosis of CMDs as well as for initial screening of thrombocytosis of unknown nature.

Original languageEnglish
Pages (from-to)355-361
Number of pages7
JournalAnnals of Hematology
Volume86
Issue number5
DOIs
Publication statusPublished - May 2007

Keywords

  • Capillary electrophoresis
  • Chronic myeloproliferative syndromes
  • Jak2
  • Multiplex PCR
  • Thrombocytosis

ASJC Scopus subject areas

  • Hematology

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