Komplex molekuláris genetikai vizsgálati algoritmus myeloproliferativ neoplasiák diagnosztikájában

Tünde Krhling, Katalin Balassa, Nóra Meggyesi, András Bors, Judit Csomor, Árpád Bátai, Gabriella Halm, Miklós Egyed, Sándor Fekete, Péter Reményi, Tamás Masszi, Attila Tordai, Hajnalka Andrikovics

Research output: Article

4 Citations (Scopus)

Abstract

Introduction: Mutations in Janus kinase 2, calreticulin and thrombopoietin receptor genes have been identified in the genetic background of Philadelphia chromosome negative, "classic" myeloproliferative neoplasms. Aim: The aim of the authors was to identify driver mutations in a large myeloproliferative cohort of 949 patients. Method: A complex array of molecular techniques (qualitative and quantitative allele-specific polymerase chain reactions, fragment analyzes, high resolution melting and Sanger sequencing) was applied. Results: All 354 patients with polycythemia vera carried Janus kinase 2 mutations (V617F 98.6%, exon 12: 1.4%). In essential thrombocythemia (n = 468), the frequency of V617F was 61.3% (n = 287), that of calreticulin 25.2% (n = 118), and that of thrombopoietin receptor mutations 2.1% (n = 10), while 11.3% (n = 53) were triple-negative. Similar distribution was observed in primary myelofibrosis (n = 127): 58.3% (n = 74) V617F, 23.6% (n = 30) calreticulin, 6.3% (n = 8) thrombopoietin receptor mutation positive and 11.8% (n = 15) triple-negative. Conclusions: The recent discovery of calreticulin gene mutations led to definite molecular diagnostics in around 90% of clonal myeloproliferative cases. Orv. Hetil., 2014, 155(52), 2074-2081.

Translated title of the contributionComplex molecular genetic diagnostic algorithm in the diagnosis of myeloproliferative neoplasms
Original languageHungarian
Pages (from-to)2074-2081
Number of pages8
JournalOrvosi hetilap
Volume155
Issue number52
DOIs
Publication statusPublished - dec. 1 2014

Keywords

  • Janus kinase 2
  • calreticulin
  • essential thrombocythemia
  • polycythemia vera
  • primary myelofibrosis

ASJC Scopus subject areas

  • Medicine(all)

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    Krhling, T., Balassa, K., Meggyesi, N., Bors, A., Csomor, J., Bátai, Á., Halm, G., Egyed, M., Fekete, S., Reményi, P., Masszi, T., Tordai, A., & Andrikovics, H. (2014). Komplex molekuláris genetikai vizsgálati algoritmus myeloproliferativ neoplasiák diagnosztikájában. Orvosi hetilap, 155(52), 2074-2081. https://doi.org/10.1556/OH.2014.30051