Differential Diagnosis
- Single most likely diagnosis
- D. Chronic Neutrophilic Leukemia (CNL): This diagnosis is the most likely due to the presence of a high absolute neutrophil count, hepatomegaly, splenomegaly, and a CSF3R mutation. CNL is a rare myeloproliferative neoplasm characterized by sustained neutrophilia, and the CSF3R mutation is a hallmark of this disease.
- Other Likely diagnoses
- B. Chronic Myelogenous Leukemia (CML): Although CML typically presents with a higher leukemic cell count and more pronounced immature cells, it is still a consideration given the patient's splenomegaly and hypercellular bone marrow. However, the lack of a BCR-ABL1 fusion gene (not mentioned in the scenario) and the presence of a CSF3R mutation make CNL more likely.
- C. Primary Myelofibrosis (PMF): PMF can present with splenomegaly and hepatomegaly, but it is typically characterized by bone marrow fibrosis, which is not mentioned in the scenario. Additionally, PMF often has a more complex cytogenetic profile, and a CSF3R mutation is not typically associated with this disease.
- Do Not Miss diagnoses
- Infection or sepsis: Although the patient's presentation suggests a myeloproliferative neoplasm, it is essential to rule out an underlying infection or sepsis, which could cause a similar neutrophilic response. A thorough infectious disease workup should be performed to exclude this possibility.
- Leukemia or lymphoma: Other types of leukemia or lymphoma, such as acute myeloid leukemia (AML) or lymphoma, could present with similar symptoms and should be considered in the differential diagnosis.
- Rare diagnoses
- A. Pelger-Huet anomaly: This is a rare benign inherited disorder characterized by abnormal neutrophil morphology. While it could explain the patient's neutrophilia, it does not account for the hepatomegaly, splenomegaly, or CSF3R mutation.
- Other myeloproliferative neoplasms: Other rare myeloproliferative neoplasms, such as atypical CML or myeloproliferative neoplasm with eosinophilia, could be considered in the differential diagnosis. However, the presence of a CSF3R mutation and the patient's clinical presentation make CNL the most likely diagnosis.