<abstract xmlns="http://www.w3.org/1999/xhtml"> The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.</abstract>

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.

Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

University Clinical Center Tuzla, Polyclinic for Laboratory Diagnostic, Department of Pathology, Tuzla, Bosnia and Herzegovina

University Clinical Center Tuzla, Polyclinic for laboratory diagnostic, Department of Pathology, Trnovac bb, 75000 Tuzla, Bosnia and Hezegovina. Tel.: +387-35-303-509.

University Clinical Center Tuzla, , Clinic for Oncology, Hematology and Radiotherapy, Department of Hematology, Tuzla, Bosnia and Herzegovina

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Translocation t(3;12)(q26;q21) In Jak2 Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced....

Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Publié en ligne: 11 déc. 2014

Pages: 63 - 67

DOI: https://doi.org/10.2478/bjmg-2014-0026

Mots clés
Chronic idiopathic myelofibrosis (CIMF), Chromosome aberration, JAK2V617F, Myeloproliferative diseases (MPDs)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Publié en ligne: 11 déc. 2014

Pages: 63 - 67

DOI: https://doi.org/10.2478/bjmg-2014-0026

Mots clésChronic idiopathic myelofibrosis (CIMF), Chromosome aberration, JAK2V617F, Myeloproliferative diseases (MPDs)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Mots clés
Chronic idiopathic myelofibrosis (CIMF), Chromosome aberration, JAK2V617F, Myeloproliferative diseases (MPDs)