Journal of Clinical & Medical Genomics

Claudia Carranza

Publications

• Case Report
  Detection of Jak2 V617f Mutation, Secondary to the Presence of Bcr-Abl1 Translocation in a Patient with Chronic Myeloid Leukemia: Report of a Case and Review of the Literature
  Author(s): Claudia Carranza, Damaris Tinti, Mariana Herrera, Luisa Rosales, Mauricio Villegas and Gabriel SilvaClaudia Carranza, Damaris Tinti, Mariana Herrera, Luisa Rosales, Mauricio Villegas and Gabriel Silva
  
  The myeloproliferative neoplasms are classified in four major diseases: Chronic Myeloid Leukemia, Polycythemia Vera, Primary Myelofibrosis and Essential Thrombocythemia. The JAK2 V617F mutation is found in 95% of Polycythemia Vera, and 50% of Essential Thrombocythemia and Primary Myelofibrosis patients. It was thought that the JAK2 V617F mutation and BCR-ABL1 translocation were mutually exclusive; but now a few cases have been reported with both alterations. We report a rare case with the presence of JAK2 V617F mutation, secondary to a diagnosis of BCR-ABL positive chronic myeloid leukemia. The patient was initially diagnosed as chronic myeloid leukemia and was BCR-ABL1 positive, so he started to receive Imatinib. He responded well to the therapy for three years, but after this time the patient had a hematological relapse still with no detectable copies of BCR-ABL1. For this reason, w.. Read More»
  DOI: 10.4172/2332-0672.1000116

  Abstract PDF