Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.
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.
American journal of clinical pathology