Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations

H. Andrikovics, Tunde Krahling, Katalin Balassa, Gabriella Halm, Andras Bors, Magdalena Koszarska, Arpad Batai, Janos Dolgos, Judit Csomor, Miklos Egyed, Andrea Sipos, Peter Remenyi, A. Tordai, T. Masszi

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Abstract

Somatic insertions/deletions in the calreticulin gene have recently been discovered to be causative alterations in myeloproliferative neoplasms. A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting and Sanger-sequencing was applied for the detection of three driver mutations (in Janus kinase 2, calreticulin and myeloproliferative leukemia virus oncogene genes) in 289 cases of essential thrombocythemia and 99 cases of primary myelofibrosis. In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myeloproliferative leukemia virus oncogene gene mutation-positive and 30 triple-negative (11%) cases were identified, while in primary myelofibrosis 56 (57%) Janus kinase 2 V617F, 25 (25%) calreticulin, 7 (7%) myeloproliferative leukemia virus oncogene gene mutation-positive and 11 (11%) triple-negative cases were identified. Patients positive for the calreticulin mutation were younger and had higher platelet counts compared to Janus kinase 2 mutation-positive counterparts. Calreticulin mutation-positive patients with essential thrombocythemia showed a lower risk of developing venous thrombosis, but no difference in overall survival. Calreticulin mutation-positive patients with primary myelofibrosis had a better overall survival compared to that of the Janus kinase 2 mutation-positive (P=0.04) or triple-negative cases (P=0.01). Type 2 calreticulin mutation occurred more frequently in essential thrombocythemia than in primary myelofibrosis (P=0.049). In essential thrombocythemia, the calreticulin mutational load was higher than the Janus kinase 2 mutational load (P

Original languageEnglish
Pages (from-to)1184-1190
Number of pages7
JournalHaematologica
Volume99
Issue number7
DOIs
Publication statusPublished - Jul 1 2014

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Calreticulin
Janus Kinase 2
Essential Thrombocythemia
Mutation
Primary Myelofibrosis
Neoplasms
Oncogenes
Leukemia
Viruses
Genes
Survival
Platelet Count
Venous Thrombosis
Freezing
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

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Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. / Andrikovics, H.; Krahling, Tunde; Balassa, Katalin; Halm, Gabriella; Bors, Andras; Koszarska, Magdalena; Batai, Arpad; Dolgos, Janos; Csomor, Judit; Egyed, Miklos; Sipos, Andrea; Remenyi, Peter; Tordai, A.; Masszi, T.

In: Haematologica, Vol. 99, No. 7, 01.07.2014, p. 1184-1190.

Research output: Contribution to journalArticle

Andrikovics, H, Krahling, T, Balassa, K, Halm, G, Bors, A, Koszarska, M, Batai, A, Dolgos, J, Csomor, J, Egyed, M, Sipos, A, Remenyi, P, Tordai, A & Masszi, T 2014, 'Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations', Haematologica, vol. 99, no. 7, pp. 1184-1190. https://doi.org/10.3324/haematol.2014.107482
Andrikovics, H. ; Krahling, Tunde ; Balassa, Katalin ; Halm, Gabriella ; Bors, Andras ; Koszarska, Magdalena ; Batai, Arpad ; Dolgos, Janos ; Csomor, Judit ; Egyed, Miklos ; Sipos, Andrea ; Remenyi, Peter ; Tordai, A. ; Masszi, T. / Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. In: Haematologica. 2014 ; Vol. 99, No. 7. pp. 1184-1190.
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AU - Balassa, Katalin

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AU - Bors, Andras

AU - Koszarska, Magdalena

AU - Batai, Arpad

AU - Dolgos, Janos

AU - Csomor, Judit

AU - Egyed, Miklos

AU - Sipos, Andrea

AU - Remenyi, Peter

AU - Tordai, A.

AU - Masszi, T.

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