Objectives: To report aberrant myeloblasts detected by flow cytometry immunophenotypic studies in an asymptomatic patient with familial platelet disorder with propensity to myeloid malignancy, a rare autosomal dominant disease caused by germline heterozygous mutations in Runt-related transcription factor 1. Methods: Morphologic evaluation, flow cytometry immunophenotypic studies, nanofluidics-based qualitative multiplex reverse transcriptase polymerase chain reaction, Sanger sequencing, and next-generation sequencing-based mutational hotspot analysis of 53 genes were performed on bone marrow biopsy and aspirate samples. Results: Flow cytometry immunophenotypic analysis showed 0.6% CD34+ blasts with an abnormal immunophenotype: CD13 increased, CD33+, CD38 decreased, CD117 increased, and CD123 increased. Conclusions: The acquisition of new phenotypic aberrancies in myeloblasts as detected by flow cytometry immunophenotypic studies might be a harbinger of impending myelodysplastic syndrome or acute myeloid leukemia in a patient with familial platelet disorder with propensity to myeloid malignancy.
CITATION STYLE
Ok, C. Y., Leventaki, V., Wang, S. A., Dinardo, C., Medeiros, L. J., & Konoplev, S. (2016). Detection of an abnormal myeloid clone by flow cytometry in familial platelet disorder with propensity to myeloid malignancy. American Journal of Clinical Pathology, 145(2), 271–276. https://doi.org/10.1093/AJCP/AQV080
Mendeley helps you to discover research relevant for your work.