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 LiteratureClaudia Carranza*, Damaris Tinti, Mariana Herrera, Luisa Rosales, Mauricio Villegas and Gabriel Silva
Molecular Laboratory, Institute for the Research in Genetic and Metabolic Diseases, Invegem, Guatemala
- *Corresponding Author:
- Claudia Carranza
Institute for the Research in Genetic and Metabolic Diseases
Tel: (502) 40507444
E-mail: [email protected]
Received Date: December 05, 2013; Accepted Date: March 03, 2014; Published Date: March 13, 2014
Citation: Carranza C, Tinti D, Herrera M, Rosales L, Villegas M, et al. (2014) 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. Int J Genomic Med 2:116. doi: 10.4172/2332-0672.1000116
Copyright: © 2014 Carranza C, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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, we thought of the possible development of another genetic alteration. Because the patient had a very high platelet count, we decided to look for the JAK2 V617F mutation, which result was positive. This case is just one of the few that have been reported worldwide that have a coexistence of these two genetic alterations: the BCR-ABL1 transcript and JAK2 V617F mutation in chronic myeloproliferative syndromes. This is the first case in the Central American population, found in our series of a total of 168 patients with Philadelphia positive chronic myeloid leukemia.