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TO THE EDITOR: Detailed analysis of Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms, essential thrombocythemia (ET), and polycythemia vera (PV) paved the way for the recognition of Janus kinase 2 (JAK2) as a potential genetic factor [1]. While most cases of these diseases are related to JAK2 V617F, some are associated with JAK2 exon 12 mutation. JAK2 exon 12 mutation is a rare phenomenon that is not yet well studied. Although, the presence of JAK2 exon 12 mutation is linked to PV and ET, its phenotypic features are not clear, especially in cases without ET and PV. The JAK2 exon 12 G571S variant has also not been studied well, and its phenotypic features are unknown. We present a case of recurrent deep vein thrombosis (DVT) and pulmonary embolism that had a negative coagulation workup, but was positive for JAK2 exon 12 (G571S) mutation. The presented case suggests a possible relationship between JAK2 exon 12 mutation and recurrent thrombosis. While JAK2 V617F is inherently related to thrombotic events, irrespective of the platelet level, JAK2 exon 12 might have similar procoagulant effects. It is hypothesized that further molecular studies can reveal the underlying factors that cause this co-occurrence.
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