چکیده (انگلیسی):

Insertion and/or deletion mutations of the CALR gene have recently been demonstrated to be
the second most common driver mutations in the myeloproliferative neoplasms (MPNs) of
essential thrombocythemia (ET) and primary myelofibrosis (PMF). Given the diagnostic and
emerging prognostic significance of these mutations, in addition to the geographical heterogeneity
reported, the incidence of CALR mutations was determined in an Irish cohort of
patients with MPNs with a view to incorporate this analysis into a prospective screening program.
A series of 202 patients with known or suspected ET and PMF were screened for the presence
of CALR mutations. CALR mutations were detected in 58 patients. Type 1 and Type 1-like
deletion mutations were the most common (n = 40) followed by Type 2 and Type 2-like insertion
mutations (n = 17). The CALR mutation profile in Irish ET and PMF patients appears similar to
that in other European populations. Establishment of this mutational profile allows the introduction
of a rational, molecular diagnostic algorithm in cases of suspected ET and PMF that will
improve clinical management.