Journal of Blood Disorders & Transfusion

Mutation or polymorphism in colony stimulating factor-3 receptor: Diagnostic implications

3^rd International Conference on Hematology & Blood Disorders

November 02-04, 2015 Atlanta, USA

Cristina Bilbao-Sieyro

Hospital Universitario de Gran Canaria Dr. Negrin, Spain

Posters-Accepted Abstracts: J Blood Disord Transfus

Abstract:

Mutations in the colony-stimulating factor 3 receptor gene (CSF3R) have been characterize as a distinctive feature in severe congenital neutropenia (SCN) and very recently in the majority of patients with chronic neutrophilic leukemia (CNL) and in few chronic myelomonocytic leukemias (CMML). Distal truncating mutations are more frequent in SCN whereas the auto-activating membrane proximal T618I missense mutation is prevalent in CNL. Other missense mutations in CSF3R have been described, however, in some cases, the consequences are unknown. We have found that some CSF3R variants that have been previously described as mutations are most likely polymorphisms since they were also present in germline DNA of patients without evidence of SCN, CNL or CMML. The distinction between polymorphisms and mutation with clinical significance is important, specially, since it has been suggested the inclusion of CSF3R mutations among World Health Organization diagnostic criteria of CLN.

Biography :

Email: bilbaocristina@gmail.com