Emily Berry
University of New Hampshire - Durham


Chronic Neutrophilic Leukemia is a genetic disease caused by mutations in multiple genes. The purpose of this research is to investigate the evolutionary relationships of these genes between multiple organisms using BLAST searches, MEGA sequence alignments and phylogenetic trees.


Hypercellularity bone marrow.jpg
Wright-Giemsa stain of human hypercellular bone marrow. Image obtained from Google Public Domain
Chronic Neutrophilic Leukemia (CNL) is a myeloproliferative neoplasm similar to Chronic Myeloid Leukemia (CML) and Chronic Myelomonocytic Leukemia (CMML). Several genes have been found to play roles in the development of CNL in patients (Elliot, 2015). The average Overall Survival (OS) of a patient with CNL is 25 months (Patnaik, 2017).

CNL, along with other forms of leukemia (CML, CMML), is caused by a translocation of the lower q regions of chromosomes 9 and 22, resulting in a Philadelphia Chromosome. This mutation leads to the overproduction of white blood cells and hypercellularity of bone marrow.

Philadelphia Chromosome.png
Image obtained from Google Public Domain.

Several genes are involved in the development of CNL. The ASXL1 gene encodes a chromatin binding protein and is involved in chromatin regulation. The CSF3R and CALR genes are involved in cell signaling. Both are found to have frameshift mutations in CNL patients. The CSF3R gene encodes the colony stimulating factor 3 protein, which controls the function of granulocytes. A CSF3R mutation is very common in CNL and is found in a large percentage of patients (Cui, 2014). The SETBP1 gene encodes the SET binding protein, which is involved in DNA replication. SETBP1 has a high incidence rate in patients as well (Patnaik, 2017). Most patients have mutations in several of these and other genes.
These genes can have multiple mutations and cause different diseases. For example, various SETBP1 mutations are found in chronic myeloid leukemia (CML), as well as chronic myelomonocytic leukemia (CMML). These different mutations can be used to identify and diagnose illness.

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