Introduction:

Biomarkers are useful in the definition of diagnosis, prognosis and monitoring of multiple diseases. The detection or measurement of one or more specific biomarkers represents alterations in genetic or epigenetic pathways that control proliferation, differentiation or cell death. The myeloproliferative neoplasms constitute a phenotypically diverse group of malignant hemopathies of clonal origin, characterized by a simple or multilinear overproduction of the erythroid, myeloid and megakaryocytic elements; as well as a marked predisposition to thrombosis, bleeding and leukemic transformation. These include: polycythemia vera, essential thrombocythemia, and primary myelofibrosis, known as classical negative myeloproliferative neoplasms BCR-ABL1 (or Philadelphia chromosome). Somatic mutations in genes such as JAK2, MPL and CARL behave as initiating driver mutations responsible for the myeloproliferative phenotype.

Methods:

Articles published in the last years were reviewed in some databases of the Virtual Health Library (VHL). In this review we expose the general molecular mechanisms of these mutations and their clinical expression; reference is made to the triple negative myeloproliferative neoplasms and their clinical implications and the diagnostic algorithm proposed by the World Health Organization that includes the new biomarkers is indicated.

Conclusions:

The molecular study provides valuable information for the diagnosis and monitoring of myeloproliferative neoplasms, but fails to differentiate between each of them. Therefore, the appropriate application of the clinical method is required to arrive at an accurate diagnosis with the help of other complementary tests.

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