Eighty-year-old Man with Rare Chronic Neutrophilic Leukemia Caused by T618I Mutation: A Case Report and Review of Literature
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Background: Chronic neutrophilic leukemia (CNL) is a rare bone marrow proliferative tumor and a heterogeneous disorder. In 2016, the World Health Organization included activating mutations in the gene as one of the diagnostic criteria, with T618I being the most common mutation. The disease is often accompanied by splenomegaly, but no developmental abnormalities and significant reticular fibrosis, and no Ph chromosome and fusion gene. So, it is difficult to diagnose at the first presentation in the absence of classical symptoms. Herein we describe a rare CNL patient without splenomegaly whose initial diagnostic clue was neutrophilic hyperactivity.
Case Summary: The patient is an 80-year-old Han Chinese man who presented with one month of fatigue and fatigue aggravation in the last half of the month. He had no splenomegaly, but had persistent hypofibrinogenemia, obvious skin bleeding, and hemoptysis, and required repeated infusion of fibrinogen therapy. After many relevant laboratory examinations, histopathological examination, and sequencing analysis, the patient was finally diagnosed with CNL [ T618I positive: c.1853C>T (p.T618I) and c.2514T>A (p.C838)].
Conclusion: The physical examination and blood test for tumor-related genes are insufficient to establish a diagnosis of CNL. Splenomegaly is not that important, but hyperplasia of interstitial neutrophil system and activating mutations in are important clues to CNL diagnosis.
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