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CSF3R

From www.haematologyetc.co.uk



Gene affected:
CSF3 - Colony Stimulating Factor 3 Receptor


Clinical significance
Presence of a CSF3R mutation is an important part of the WHO 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia diagnostic criteria for Chronic Neutrophil Leukaemia (CNL) and aids in separating from reactive causes of neutrophilia.



Function of gene

CSF3R is important in the proliferation, differentiation and survival of neutrophilic lineage cells and is essential for granulocytic maturation


NGS panel gene coverage

Exons 14-17


Occurrence:


CNL (present in ~80% of cases)
Prognostic implications have not yet been identified
AML (~1%)
Prognostic implications have not yet been identified
aCML (<10%)
Again prognostic implications are unclear

NOTE Germline CSF3R mutations are associated with Congenital neutropenia



Links


GeneWiki link:

Gene Wiki entry for CSF3R

References

1. Genomics of CNL