Clonal evolution in a chronic neutrophilic leukemia patient

Area of Science:

• Hematology
• Oncology
• Molecular Biology

Background:

• Chronic neutrophilic leukemia (CNL) is a myeloproliferative neoplasm characterized by neutrophil proliferation.
• Mutations in the colony-stimulating factor 3 receptor (CSF3R) are found in over 80% of CNL cases, leading to receptor activation.

Observation:

• A male patient presented with peripheral blood leukocytosis, diagnosed with CNL based on morphology and molecular findings.
• At 7-month follow-up, the patient exhibited an additional CSF3R mutation (c.1853C>T, p.T618I) alongside a previously identified truncated mutation (c.2373G>A, p.W791*).

Findings:

• This is the first reported case of CNL with the CSF3R c.2373G>A (p.W791*) truncated mutation.
• The emergence of a second CSF3R mutation (p.T618I) provides insights into the chronological acquisition of mutations in CNL.

Implications:

• These findings suggest a novel mechanism in CNL pathogenesis driven by sequential CSF3R mutations.
• Further research is needed to determine the impact of mutation order on clonal evolution and disease progression in CNL.