TO THE EDITOR:

One of the most common reasons for hematology consultation is the evaluation of cytopenia(s). The workup of patients who present with cytopenia(s) can be extensive, given the wide differential diagnosis. Although only a minority of patients are ultimately diagnosed with a hematologic malignancy, a key entity to exclude in this differential is myelodysplastic syndrome (MDS), which requires bone marrow morphology and cytogenetics for diagnosis. There is a clinical need for the development of minimally invasive ancillary tests to enhance conventional hematologic workup (eg, complete blood count with differential, B12/folate testing, iron-related studies, and serum protein electrophoresis) in the identification of patients who are at a low risk of having an underlying hematologic malignancy as the cause of cytopenia(s), thereby avoiding a costly and invasive bone marrow biopsy (BMBx).

Mutation profiling of peripheral blood (PB) using next-generation...

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