Which JAK2 V617F mutation-positive myeloproliferative neoplasm is most likely to present with splenic vein thrombosis or Budd-Chiari syndrome?

• A Essential thrombocythaemia or polycythaemia vera ✓
• B CML (chronic myeloid leukaemia)
• C Primary myelofibrosis
• D Systemic mastocytosis

Explanation

JAK2 V617F-positive myeloproliferative neoplasms (MPNs), particularly essential thrombocythaemia (ET) and polycythaemia vera (PV), are strongly associated with unusual site thromboses including splanchnic vein thrombosis (portal, splenic, mesenteric) and Budd-Chiari syndrome. Testing for JAK2 V617F is recommended in all cases of unexplained splanchnic thrombosis. CML is BCR-ABL1 driven and not JAK2-related; primary myelofibrosis less commonly presents with these vascular events.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.