Related Experiment Video

Updated: May 25, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
12:40

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

JAK2 V617F mutation prevalence in myeloproliferative neoplasms in Pernambuco, Brazil

Rafael Ramos da Silva1, Betânia Lucena Domingues Hatzlhofer, Cíntia Gonsalves de Faria Machado

  • 1Centro de Ciências Biológicas, Universidade Federal de Pernambuco, Recife-Pernambuco, Brazil.

Genetic Testing and Molecular Biomarkers
|February 7, 2012
PubMed
Abstract

Insights

The JAK2 V617F mutation is prevalent in myeloproliferative neoplasms (MPNs) in Brazil, with high rates in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Further research is needed for JAK2 V617F-negative MPNs.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • The JAK2 V617F mutation is linked to myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
  • This mutation drives abnormal myeloid lineage proliferation and is associated with complications like thrombosis and bleeding.
  • No specific treatments exist for BCR-ABL-negative JAK2 V617F-negative MPNs.

Purpose of the Study:

  • To determine the prevalence of the JAK2 V617F mutation in MPN patients in Pernambuco, Brazil.
  • To compare these findings with existing international studies on JAK2 V617F prevalence.

Main Methods:

  • Collected 144 blood samples from patients at the HEMOPE Foundation's Hospital of Hematology.
  • Genotyped samples using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with BsaXI digestion.

Main Results:

  • JAK2 V617F mutation positivity was found in 88% of PV patients, 47% of ET patients, and 77% of PMF patients.
  • Over 35% of individuals tested negative for the JAK2 V617F mutation.
  • The study observed a high prevalence of the JAK2 V617F mutation in MPNs, often with a low mutated allele burden, consistent with findings in Western countries.

Conclusions:

  • The JAK2 V617F mutation is highly prevalent in Brazilian MPN patients, mirroring global trends.
  • Future screening for JAK2 V617F may enable targeted therapies with JAK2 inhibitors.
  • Further investigation into the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs is warranted.

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia08:31

Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia

Published on: October 17, 2025

Related Concept Videos

Prevalence and Incidence01:08

Prevalence and Incidence

In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health condition at a...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
Treatment Resistent Cancers02:56

Treatment Resistent Cancers

Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...