Determinación de la mutación V617F del gen JAK2 en los síndromes mieloproliferativos crónicos en nuestro país: A propósito de un caso

Daniela Lens; Pablo Muxi; Andreína Brugnini; Natalia Trías; Silvia Pierri

Authors

Daniela Lens Universidad de la República, Facultad de Medicina, Hospital de Clínicas, Departamento Básico de Medicina, Prof. Agregada
Pablo Muxi Universidad de la República, Facultad de Medicina, Hospital de Clínicas, Departamento Clínico de Medicin, Clínica Hematológica, Prof. Agregado
Andreína Brugnini Universidad de la República, Facultad de Medicina, Hospital de Clínicas, Departamento Básico de Medicina, Ayudante. Lic. Bioquímica
Natalia Trías Universidad de la República, Facultad de Medicina, Hospital de Clínicas, Departamento Básico de Medicina, Ayudante. Lic. Bioquímica
Silvia Pierri Universidad de la República, Facultad de Medicina, Hospital de Clínicas, Departamento Clínico de Medicina, Clínica Hematológica. , Prof. Adjunta

Keywords:

MYELOPROLIFERATIVE DISORDERS, GENETIC MUTATION, PROTEIN-TYROSINE KINASE

Abstract

Polycythemia vera (PV), essential thrombocythemia (ET–TE) and idiopathic myelofibrosis (IM-MI) are clonal myeloproliferative disorders characterized by an excessive proliferation of one or more myeloids lineage such as erythrocits, platelets and fibroblasts of bone marrow.
Precise categorization of myeloproliferative syndromes still need to be debated even if diagnostic criteria are strict; additionally these disorders are difficult to differentiate from reactive processes.
Recently, in 2005, JAK2-mutation was identified in many of those entities. Sequencing of the coding region of JAK2 revealed a G to T transversion at position 1849, that changed a valine to a phenylalanine (JAK2 V617F).
Incidence of V617F-JAK2-mutation was almost 90% in patients with PV, and 50% in patients with IM and ET.
In this study we describe the detection of the V617F-JAK2-mutation in a patient suspected of PV using allele-specific polymerase chain reaction analysis (PCR) and we discuss the importance of the mutation for diagnosis and treatment of negative BCR-ABL myeloproliferative syndromes.

References

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