MPL exon 10 mutations in Irish patients with a suspected myeloproliferative neoplasm.
Lee Tokar, Lisa; Kearney, Laura; Langabeer, Stephen E
The myeloproliferative neoplasms (MPN) of essential thrombocythemia (ET) and primary myelofibrosis (PMF) can be broadly molecularly characterized into four main groups according to the presence of acquired mutations in JAK2, CALR or MPL genes (all resulting in cytokine-independent proliferative signaling) or those without these mutations, termed “triple negative” (Grabek et al., 2020[5]). Of these groups, MPL mutations are the less common, occurring in approximately 5-10 % of MPN patients and which result in a particular phenotype (Alvarez-Larran et al., 2018[2]). The majority of MPL mutations occur in exon 10 that encodes the transmembrane domain although sporadic mutations elsewhere in the gene have been documented. Within exon 10, the mutational hotspot is the codon for Tryptophan at position W515 (Ma et al., 2011[6]). A review was performed on the frequency and type of MPL exon 10 mutations in an Irish population of patients with suspected MPN in order to inform future screening strategies.
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