The molecular-genetic system for diagnostics myeloproliferative neoplasms

Abstract

Aims. The myeloproliferative neoplasms (MPNs) are a group of diseases characterized by the rapid growth of abnormal uncontrolled proliferation myeloid cells. The definition of specific molecular-genetic abnormalities is important for diagnosis and treatment. Methods. Fusion genes bcr-abl1 was detected by nested RT-PCR. Mutation V617F genes jak2 was detected by T-ARMS PCR. Mutation of 12 exon gene jak2, exon 10 gene mpl, abl domain gene bcr/abl were detected by RT-PCR and direct sequensing. Results. Samples of blood of patients with different type MPNs were analyzed by the molecular-genetic system for diagnostics myeloproliferative neoplasms. Conclusions. Molecular genetic analysis is central to the diagnosis and clinical management of patients with myeloid neoplasms. It allows, in combination with clinical, cytogenetic and histochemical data to diagnose, choose the optimal treatment regimen and monitor the status of patients during treatment and remission.

Key words: myeloproliferative neoplasms; PCR; bcr/abl, jak2, mpl genes; mutation.