A Case of Pulmonary Thromboembolism with JAK2 Mutation / 결핵및호흡기질환

The incidence of pulmonary thromboembolism increases with age. The risk factors of pulmonary thromboembolism include surgery, malignancy, obesity, lupus anticoagulants, and vascular conditions such as deep vein thrombosis. Thromboembolism in younger patients or in unusual locations, the possibility of primary thrombophilic conditions should be considered. Primary thrombophilic states include myeloproliferative disorders (MPD). JAK2 V617F mutation is found commonly in patients diagnosed with MPD, in 90~95% of polycythemia vera (PV) and in 50~60% of essential thrombocytosis (ET) patients. Sometimes the JAK2 V617F mutation is found in cases without MPD. The relationship between JAK2 V617F mutation and thrombosis has not been defined. Recently, clinical evidence suggests that this mutation may be variably associated with thrombosis. We present one case of pulmonary thromboembolism in a young patient, who was positive for the JAK2 V617F mutation and did not have MPD.

Radiologic Features of Posterior Fossa Hemangioblastomas: Emphasis on MR Findings

PURPOSE: To review MR findings of the posterior fossa hemangioblastomas and to evaluate diagnostic value of MRI correlated with CT and anglographic findings. MATERIALS AND METHODS: The MR findings in twelve patients with surgically proven posterior fossa hemangioblastomas including one case of von Hippel- Lindau disease were retrospectively analyzed and correlated with CT (7 patients) and anglographic findings (9 patients). RESULTS: On MRI, five hemangioblastomas were located in the cerebellar hemisphere and seven in the vermis. The masses appeared to be solid in 3 cases(25%), solid tumors with central cyst in 2 cases(17%), and cyst with mural nodules in 7 cases(58%). Abnormal tumor vessels represented by characteristic signal voids on MRI were observed in 9 cases(75%) and were not seen in 3 cases(25%) with mural nodule below 1.5cm in diameter. On pre-contrast CT, hemangioblastomas appeared poorly marginated slightly hyperdense masses in solid tumors, and hypodense cystic masses in cysts. After contrast enhancement, solid tumors were markedly enhanced, but it was difficult to differentiate hemangioblastomas from other tumors. In nine patients, anglograms demonstrated hypervascular blush corresponding to the solid component of the tumors. CONCLUSION: MRI was superior to CT in evaluating the characteristic of abnormal tumor vessels and mural nodules, delineation of tumor margin and tumor extent. Angiography was useful in the diagnosis of cystic hemangioblastomas which contain small mural nodule (less than 1.5cm in diameter) without definite vascular signal voids on MRI. MRI demonstrated solid or cystic tumor with small mural nodule and abnormal vascular signal voids in the posterior fossa should suggest hemangioblastoma.