What is CSF3R mutation?

What is CSF3R mutation?

CSF3R mutations are newly-identified genetic markers detected in 59% of chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia (aCML) that are useful for diagnosis and classification of these disorders.

What is chronic neutrophilic leukemia?

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm. It causes the body to make too many neutrophils in the bone marrow. Neutrophils are a type of white blood cell that help defend the body against bacteria, viruses and types of fungus. There is no known cause for chronic neutrophilic leukemia.

Is chronic neutrophilic leukemia curable?

Results: Three quarters of the patients died within two years after diagnosis, mostly as a result of severe cerebral haemorrhage. Two younger patients were successfully treated with allogeneic bone marrow transplantation or interferon, which resulted in haematological remission for years.

What is the prognosis for chronic neutrophilic leukemia?

Chronic neutrophilic leukaemia (CNL) is a rare BCR/ABL negative myeloproliferative disorder characterised by persistent neutrophilia and splenomegaly. CNL generally affects elderly patients of both sexes. Most patients with CNL have a poor prognosis, with a mean survival time of 21 months.

How rare is chronic neutrophilic leukemia?

Chronic Neutrophilic Leukemia (CNL) is a vanishingly rare disease (less than 1% of chronic myeloproliferative neoplasia (CMPN)) characterized by a persistent leukocytosis greater than 25,000/μl comprised of more than 80% segmented neutrophils and bands.

How is chronic neutrophilic leukemia treated?

There is no standard treatment for CNL. The disease has primarily been treated with hydroxyurea and other oral chemotherapy agents, as well as interferon-alpha. Allogeneic stem cell transplantation is a potentially curative option for eligible patients.

Is CSF3R mutation associated with aCML?

CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. Somatic CSF3R mutations were recently described in 50% to 80% of chronic neutrophilic leukemia (CNL) patients. Their association with atypical chronic myelogenous leukemia (aCML) remains controversial.

What is CSF3R?

Colony stimulating factor 3 receptor (CSF3R) is a gene that encodes the receptor associated with colony stimulating factor 3, which is a member of the family of cytokine receptors.

What is the CSF3R t618i mutation?

CSF3R T618I mutation is associated with Chronic neutrophilic leukemia. biallelic CSF3R mutations were identified In the group of congenital neutropenia patients; CSF3R mutant clones are highly dynamic and may disappear and reappear during continuous granulocyte colony-stimulating factor (G-CSF) therapy.

What is the relationship between CSF3R mutations and neutropenia?

CSF3R mutations are associated with congenital neutropenia. The leukemogenic potential of G-CSFRIV is associated with the Stat5-dependent dysregulation of miR-155 and the target genes of this miRNA. No CSF3R mutations were found in cases of MDS, JMML or ET. The only mutation found in the CALR gene was a frameshift (p.L367 fs) in one ET patient.