Somatic mutations in gene have been reported in 60%-88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for and mutations. Most of the mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in gene is rarely reported, and its association with clinical behavior of disease and impact on outcome of patients is not studied so far. We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs 50) in gene having severe disease manifestations at presentation.
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| http://dx.doi.org/10.1155/2019/1430170 | DOI Listing |
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