title: Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera.
abstract: 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.
authors.affiliation: Hematology-Oncology and BMT Research Center, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Toogeh
authors.forename: Shirin
authors.initials: S
authors.lastname: Ferdowsi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Naadali
authors.forename: Kamran
authors.initials: K
authors.lastname: Alimoghaddam
authors.forename: Ardeshir
authors.initials: A
authors.lastname: Ghavamzadeh
authors.forename: Reza
authors.initials: R
authors.lastname: Shirkoohi
authors.forename: Seyed H
authors.initials: SH
authors.lastname: Ghaffari
mesh_terms: D000328:Adult; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D016313:Genes, abl / Q000235:genetics; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D016898:Interferon-alpha / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D011087:Polycythemia Vera / Q000188:drug therapy / Q000235:genetics*; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000188:drug therapy / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D007155:Immunologic Factors; D016898:Interferon-alpha; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2