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• W2024588738 abstract "Several laboratories have recently reported an acquired mutation in Janus kinase-2 (Jak2) in patients with sporadic polycythaemia vera (PV) (Baxter et al, 2005; James et al, 2005; Kralovics et al, 2005; Levine et al, 2005). Three groups also investigated patients who had a first-degree relative with a myeloproliferative disorder (MPD) ‘raising the possibility of a constitutional mutation of Jak2 in these families’ (Baxter et al, 2005; Kralovics et al, 2005; Levine et al, 2005). From their data, which showed no evidence of the mutation in unaffected tissues, the authors concluded that the Val617Phe mutation ‘is acquired in most patients’, but ‘do not exclude the possibility that it could be inherited in a few patients’ (Baxter et al, 2005). We have therefore analysed the Jak2 mutational status in a large pedigree with familial PV that has been previously reported (Cario et al, 2003). While both affected members [unique patient numbers (UPNs) 534 and 533] displayed the heterozygous G to T mutation at base pair 1849, the obligate carrier of the familial PV trait, UPN 532, was homozygous for the wild-type allele. Thus, Jak2V617F did not represent the heritable, disease predisposing allele in our pedigree (Fig 1). Haemoglobin concentration (Hb, g/dl), leucocyte count (leu, ×109/l), platelet count (plt, ×109/l), endogenous erythroid colony (EEC) formation, PRV-1 expression and Jak2 bp 1846 to 1854 sequence in purified granulocytes of pedigree with familial polycythaemia vera (PV). This analysis supports and extends the conclusions of recent reports that the Jak2V617F mutation is acquired, even in individuals who are genetically predisposed to developing PV. Kralovics et al (2003) previously excluded the chromosomal location of Jak2 (9p) as the site of the primary familial PV locus in four families. However, they suggested a model, in which one mutation is inherited and the second (now identified as Jak2) is acquired. The inherited mutation is possibly ‘genetically heterogeneous’ (Kralovics et al, 2003), requiring linkage analyses of multiple unrelated pedigrees in order to identify all genes capable of predisposing to the development of PV. From the data summarised above, we support the conclusion that a constitutional Val617Phe mutation is not a common cause of familial PV. In addition, we propose that the reason why an identical mutation can be associated with three different disease phenotypes is that the Jak2V617F mutation represents the ultimate, disease-precipitating alteration, but that at least one genetic change, variable in nature and possibly a chromosomal location, must precede the Jak2 mutation, in order for an MPD to develop. The identity of this/these preceding change(s) determines the heterogeneous phenotypic presentation of MPD patients. The observation of all three subtypes of MPD in a single pedigree indicates two possibilities. Either more than one variable event precedes the Jak2 mutation, and only one of these is inherited. Alternatively, the interaction between the first mutation and Jak2V617F is modulated by ‘interindividual differences in genetic background or by differences in the target cell of transformation’ (Baxter et al, 2005)." @default.
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• W2024588738 date "2005-08-10" @default.
• W2024588738 modified "2023-10-16" @default.
• W2024588738 title "The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera" @default.
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• W2024588738 doi "https://doi.org/10.1111/j.1365-2141.2005.05683.x" @default.
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