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Órgano oficial de difusión de la Federación Mexicana de Patología Clínica, AC y de la Asociación Latinoamericana de Patología Clínica/Medicina de Laboratorio

2008, Number 3

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Rev Mex Patol Clin Med Lab 2008; 55 (3)

Coexistence of JAK-2 V617F mutation and prothrombin G20210A mutation in a female patient with essential thrombocythemia

Velarde FJS, Rivas LR, Zazueta ML, Ochoa RLA, Ríos TJJ, Rendón AH

Language: Spanish
References: 13
Page: 139-142
PDF size: 120.17 Kb.


ABSTRACT

Introduction: The JAK-2 V617F mutation has great importance in the diagnosis, classification and treatment of chronic myeloproliferative disorders. Clinical case: In a 64 year old woman thrombocytosis was detected in the preoperative analyses for blepharoplastia who developed cerebral-vascular disease after the surgery. The most recent studies showed the presence of V617F and G20210A mutations of JAK-2 and prothrombin genes, respectively; as well as short times of TP and TPT times, and different cellular anomalies. Conclusion: The present study one of the first reported in Mexico, which describes the JAK-2 V617F mutation in patients with chronic myeloprolipherative disorders, and the first describing this mutation in a patient with essential thrombocythemia who also possess another mutation of thrombotic risk. We feel it is important to begin preventive anticoagulation immediately.


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