Differential Diagnosis
- Single most likely diagnosis
- Clonal Hematopoiesis of Indeterminate Potential (CHIP): The presence of multiple TET2 mutations at significant variant allele frequencies in the absence of other driver mutations and without overt dysplasia or increased blasts is highly suggestive of CHIP. The bone marrow biopsy showing hypercellular marrow with trilineage hematopoiesis and decreased storage iron also supports this diagnosis.
- Other Likely diagnoses
- Myelodysplastic Syndrome (MDS): Although the bone marrow biopsy does not show overt dysplasia, the presence of TET2 mutations and decreased storage iron could be seen in MDS, particularly in cases with a more subtle presentation. However, the lack of significant dysplasia and the low blast percentage make this less likely.
- Idiopathic Cytopenia of Undetermined Significance (ICUS): This diagnosis could be considered if there were cytopenias present, but the information provided does not specify the presence of cytopenias. The TET2 mutations could contribute to the development of cytopenias.
- Do Not Miss
- Acute Myeloid Leukemia (AML): Although the blast percentage is low (0.9%) and flow cytometry shows no abnormal populations, the presence of TET2 mutations could be a precursor to AML. It is crucial to monitor the patient closely for any signs of progression.
- Myeloproliferative Neoplasm (MPN): The absence of JAK2, CALR, and MPL mutations makes this less likely, but it is essential to consider MPN in the differential diagnosis due to the potential for overlap in clinical and laboratory features.
- Rare diagnoses
- TET2-related hereditary myeloid malignancy: This is a rare condition characterized by germline TET2 mutations leading to a predisposition to myeloid malignancies. The presence of multiple TET2 mutations could raise suspicion for this condition, although it is extremely rare.
- Other myeloid neoplasms: Other rare myeloid neoplasms, such as atypical chronic myeloid leukemia or myelodysplastic/myeloproliferative neoplasms, could be considered, but the provided information does not strongly support these diagnoses.