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Erschienen in: memo - Magazine of European Medical Oncology 2/2020

03.03.2020 | original report

Different CALR mutation subtypes in essential thrombocythemia and primary myelofibrosis patients without JAK2 mutation

verfasst von: MD, PhD Layla M. Saleh, Reem Algamal, Hanaa Abd Elmasseh, Emily Barber, Hasan Abdel-ghaffar

Erschienen in: memo - Magazine of European Medical Oncology | Ausgabe 2/2020

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Summary

Background

Discovery of calreticulin (CALR) mutations are considered essential in understanding the molecular basis of myeloproliferative neoplasms (MPNs). These mutations have been demonstrated to be the second driver mutation in MPNs especially essential thrombocythemia (ET) and primary myelofibrosis (PMF). The diagnostic and prognostic significance of these mutations, in addition to the geographical and ethnic heterogeneity, were previously reported. Molecular profiling also guides the selection of therapy for patients with MPNs. Therefore, we investigated the frequency and clinical and demographic characteristics of CALR mutations in Egyptian patients with MPNs.

Methods

We investigated CALR mutations in 84 Egyptian patients with MPNs using florescent polymerase chain reaction followed by fragment analysis. Then, we analyzed the relationship between the mutations and patient clinical data.

Results

The frequency of CALR mutations was 13% (type 2 mutations, 55%; mix or complex mutations, 27%; type 1 mutations, 18%). CALR mutations were most frequent in ET (21.4%), followed by PMF (15.4%) and were not found in polycythemia vera (PV). Clinically, patients with mutated CALR had significantly lower levels of leukocytes (P = 0.042) and higher platelet count (P = 0.04) compared to those with nonmutated CALR and lower risk of thrombosis although a statistical difference was not detected.

Conclusions

CALR mutations were found frequently in Egyptian MPNs patients with ET and PMF especially in those without JAK2 mutation. Patients with type 2 and complex mutations were more frequent in our cohort than the previously known published data. Thus, CALR is a potentially valuable marker for stratification of JAK2-negative MPN patients.

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Literatur
28.
Zurück zum Zitat Kim SY, Im K, Park SN, Kwon J, Kim J‑A, Lee DS. CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable. Am J Clin Pathol. 2015;143:635–44. https://​doi.​org/​10.​1309/​AJCPUAAC16LIWZMM​. CrossRefPubMed Kim SY, Im K, Park SN, Kwon J, Kim J‑A, Lee DS. CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable. Am J Clin Pathol. 2015;143:635–44. https://​doi.​org/​10.​1309/​AJCPUAAC16LIWZMM​. CrossRefPubMed
Metadaten
Titel
Different CALR mutation subtypes in essential thrombocythemia and primary myelofibrosis patients without JAK2 mutation
verfasst von
MD, PhD Layla M. Saleh
Reem Algamal
Hanaa Abd Elmasseh
Emily Barber
Hasan Abdel-ghaffar
Publikationsdatum
03.03.2020
Verlag
Springer Vienna
Erschienen in
memo - Magazine of European Medical Oncology / Ausgabe 2/2020
Print ISSN: 1865-5041
Elektronische ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-020-00584-2