title: Coexistence of JAK2V617F Mutation and BCR-ABL Translocation in a Pregnant Woman with Essential Thrombocythemia.
abstract: In 2012, a 25-years-old pregnant woman presented with thromocytosis for 4 months, blood counts showed platelets 701 × 10(9)/L. Bone marrow examination disclosed a feature of hypercellular marrow in erythrocytic,granulocytic and megakaryocytic series. Cytogenetic analysis showed t(9;22)(q34;q11) in 100 % of metaphase. The percentage of BCR-ABL-positive FISH signals was 37 % in the peripheral blood. Molecular analysis showed the presence of the JAK2V617F mutation and BCR-ABL mRNA b3a2 transcript. A diagnosis of concomitant presence of essential thrombocythemia and chronic myelocytic leukemia was made. Based on this case and literatures reported before, it might be necessary to detect JAK2-V617F mutation and BCR-ABL fusion gene concomitantly in myeloproliferative neoplasms patients.
authors.affiliation: Department of Hematology, Shanghai First People's Hospital, Medical College, Shanghai JiaoTong University, Shanghai, People's Republic of China.
authors.forename: You-Wen
authors.initials: YW
authors.lastname: Qin
authors.affiliation: Department of Hematology, Shanghai First People's Hospital, Medical College, Shanghai JiaoTong University, Shanghai, People's Republic of China.
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Yang
authors.affiliation: Department of Hematology, Shanghai First People's Hospital, Medical College, Shanghai JiaoTong University, Shanghai, People's Republic of China.
authors.forename: Su
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Hematology, Shanghai First People's Hospital, Medical College, Shanghai JiaoTong University, Shanghai, People's Republic of China.
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
keywords: BCR–ABL; Chronic myelocytic leukemia; Essential thrombocythemia; JAK2V617F mutation; Myeloproliferative neoplasms