Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera

• DOI: 10.1007/s12032-010-9570-8
• Publication Date: 2010-05-24T16:43:38Z
• Authors: Gholamreza Toogeh; Shirin Ferdowsi; Fatemeh Naadali; Kamran Alimoghaddam; Ardeshir Ghavamzadeh; Reza Shirkoohi; Seyed H. Ghaffari
• Keywords: Adult; Reverse Transcriptase Polymerase Chain Reaction; Pregnancy Complications, Hematologic; Fusion Proteins, bcr-abl; Interferon-alpha; Genes, abl; Janus Kinase 2; Translocation, Genetic; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Pregnancy; Mutation; Humans; Immunologic Factors; Female; Polycythemia Vera

In 2007, a 27-year-old woman presented with mild splenomegaly. Blood counts showed hemoglobin (Hb): 17.8 g/dl, HCT: 56% and Red blood cells: 6.45×10(12)/L. Bone marrow examination disclosed a hypercellular marrow. Molecular analysis showed the presence of the JAK2 V617F mutation and BCR-ABL/BCR mRNA b3a2 transcript. A diagnosis of BCR-ABL-positive polycythemia vera (PV) was made. In 2009, she had nulipar pregnancy and treated with interferon-alpha. She delivered a healthy girl infant at 37 weeks. This case report suggests that in a PV pregnant woman with a concomitant presence of JAK2 V617F mutation and BCR-ABL translocation, the administration of interferon during the pregnancy could lead to a safe pregnancy and delivery.