Molecular landscape of the gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil.

(dbSNP: ) is the most frequent and most-studied variant in negative myeloproliferative neoplasms and in the gene. The present study aimed to molecularly characterize variants in the complete coding region of the gene in patients with negative chronic myeloproliferative neoplasms. The study included 97 patients with negative myeloproliferative neoplasms, including polycythemia vera (n=38), essential thrombocythemia (n=55), and myelofibrosis (n=04). Molecular evaluation was performed using conventional PCR and Sanger sequencing to detect variants in the complete coding region of the gene. The presence of missense variants in the gene including , and were identified. The coexistence of variants was detected in polycythemia vera and essential thrombocythemia. Thus, individuals with high variant allele frequency (≥50% VAF) presented more thrombo-hemorrhagic events and manifestations of splenomegaly compared with those with low variant allele frequency (<50% VAF). In conclusion, individuals with negative neoplasms can display >1 variant in the gene, especially , , and variants, and those with high VAF show alterations in the clinical-laboratory profile compared with those with low VAF.